Calpain small subunit 1

Filters:

Results for "Calpain small subunit 1": 3 datasets, 2359 genes, 1001 gene sets

Name
CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset From Connectivity Map mRNA expression profiles for cell lines following chemical perturbation
GEO Signatures of Differentially Expressed Genes for Small Molecules Dataset From Gene Expression Omnibus mRNA expression profiles for cell lines or tissues following small molecule perturbation
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset (Archived) From LINCS L1000 Connectivity Map mRNA expression profiles for cell lines following small molecule perturbation
CAPNS1 Gene calpain, small subunit 1 This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
CAPNS2 Gene calpain, small subunit 2 Enables calcium-dependent cysteine-type endopeptidase activity. Predicted to be located in cytosol and plasma membrane. Predicted to be part of calpain complex. [provided by Alliance of Genome Resources, Mar 2025]
CAPNS1P1 Gene calpain, small subunit 1 pseudogene 1
CAPN2 Gene calpain 2, (m/II) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CAPN1 Gene calpain 1, (mu/I) large subunit The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
CAPN15 Gene calpain 15 This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
CAPN14 Gene calpain 14 Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
CAPN13 Gene calpain 13 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
CAPN12 Gene calpain 12 The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
CAPN11 Gene calpain 11 Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
CAPN10 Gene calpain 10 Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
CAPN8 Gene calpain 8 Predicted to enable calcium-dependent cysteine-type endopeptidase activity and identical protein binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within calcium-dependent self proteolysis. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
CAPN7 Gene calpain 7 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
CAPN6 Gene calpain 6 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]
CAPN5 Gene calpain 5 Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
CAPN3 Gene calpain 3, (p94) Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
CAPN9 Gene calpain 9 Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LOC101928952 Gene serine palmitoyltransferase small* subunit A pseudogene*
KRR1 Gene KRR1, small* subunit (SSU) processome component, homolog (yeast)* Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome; intercellular bridge; and nuclear lumen. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
RRP9 Gene ribosomal RNA processing 9, small* subunit (SSU) processome component, homolog (yeast)* This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
UTP3 Gene UTP3, small* subunit (SSU) processome component, homolog (S. cerevisiae)* Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422490 Gene UTP6, small* subunit (SSU) processome component, homolog (yeast) pseudogene*
LOC100422497 Gene UTP18, small* subunit (SSU) processome component, homolog (yeast) pseudogene*
UTP18 Gene UTP18 small* subunit (SSU) processome component homolog (yeast)* Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nuclear membrane; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
CMSS1 Gene cms1 ribosomal small* subunit homolog (yeast)* Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]
SPTSSA Gene serine palmitoyltransferase, small* subunit A* Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
SPTSSB Gene serine palmitoyltransferase, small* subunit B* Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
UTP6 Gene UTP6, small* subunit (SSU) processome component, homolog (yeast)* Predicted to enable snoRNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
KRR1P1 Gene KRR1, small* subunit (SSU) processome component, homolog (yeast) pseudogene 1*
UTP23 Gene UTP23, small* subunit (SSU) processome component, homolog (yeast)* Enables mRNA 3'-UTR binding activity and mRNA 5'-UTR binding activity. Predicted to be involved in rRNA processing. Predicted to act upstream of or within endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleus. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]
UTP20 Gene UTP20, small* subunit (SSU) processome component, homolog (yeast)* UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
UTP4 Gene UTP4 small* subunit processome component* This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
UTP11 Gene UTP11 small* subunit processome component* Enables RNA binding activity. Involved in nervous system development; positive regulation of apoptotic process; and ribosomal small subunit biogenesis. Located in cytoplasm; extracellular space; and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
UTP25 Gene UTP25 small* subunit processome component* Enables RNA binding activity. Involved in several processes, including protein catabolic process; protein destabilization; and protein localization to nucleolus. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
FSAF1 Gene 40S small* subunit processome assembly factor 1* Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in chromosome. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
RIIAD1 Gene regulatory subunit* of type II PKA R-subunit (RIIa) domain containing 1*
LOC102725016 Gene serine/threonine-protein phosphatase 2A regulatory subunit* B'' subunit beta*
LOC100507083 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9) pseudogene*
ATP5G2P1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9) pseudogene 1*
ATP5G2P3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9) pseudogene 3*
ATP5G2P2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9) pseudogene 2*
ATP5G2P4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9) pseudogene 4*
ATP5G3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C3 (subunit 9)* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]
ATP5G2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C2 (subunit 9)* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]
ATP5G1P3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 3*
ATP5G1P1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 1*
ATP5G1P2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 2*
ATP5G1P6 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 6*
ATP5G1P7 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 7*
ATP5G1P4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 4*
ATP5G1P5 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 5*
ATP5G1P8 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9) pseudogene 8*
LOC102724991 Gene serine/threonine-protein phosphatase 2A regulatory subunit* B'' subunit beta*
ATP5G1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* C1 (subunit 9)* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
RNU5B-1 Gene RNA, U5B small* nuclear 1* Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNRPCP6 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 6
RNU6-67P Gene RNA, U6 small* nuclear 67, pseudogene*
RNU7-36P Gene RNA, U7 small* nuclear 36 pseudogene*
SNORA81 Gene small nucleolar RNA, H/ACA box 81 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA81, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA84 Gene small nucleolar RNA, H/ACA box 84 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SGSM3 Gene small G protein signaling modulator 3 Enables GTPase activator activity and small GTPase binding activity. Involved in several processes, including Rap protein signal transduction; positive regulation of GTPase activity; and regulation of Rab protein signal transduction. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-14 Gene small nucleolar RNA, C/D box 115-14 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-16 Gene small nucleolar RNA, C/D box 115-16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-17 Gene small nucleolar RNA, C/D box 115-17 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-10 Gene small nucleolar RNA, C/D box 115-10 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-16P Gene RNA, U1 small* nuclear 16, pseudogene*
RNU7-53P Gene RNA, U7 small* nuclear 53 pseudogene*
RNU5A-5P Gene RNA, U5A small* nuclear 5, pseudogene*
SNORD48 Gene small nucleolar RNA, C/D box 48 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD90 Gene small nucleolar RNA, C/D box 90 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD41 Gene small nucleolar RNA, C/D box 41 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD47 Gene small nucleolar RNA, C/D box 47 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD44 Gene small nucleolar RNA, C/D box 44 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD93 Gene small nucleolar RNA, C/D box 93 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD4B Gene small nucleolar RNA, C/D box 4B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD4A Gene small nucleolar RNA, C/D box 4A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100133102 Gene ras-related C3 botulinum toxin substrate 2 (rho family, small* GTP binding protein Rac2) pseudogene*
LOC100422227 Gene small ubiquitin-like modifier 1 pseudogene
U2AF1L4 Gene U2 small* nuclear RNA auxiliary factor 1-like 4* Predicted to enable pre-mRNA 3'-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]
RNU2-6P Gene RNA, U2 small* nuclear 6, pseudogene*
SNORD91B Gene small nucleolar RNA, C/D box 91B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD91A Gene small nucleolar RNA, C/D box 91A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC402230 Gene small nuclear ribonucleoprotein 27kDa (U4/U6.U5) pseudogene
SNORD115-6 Gene small nucleolar RNA, C/D box 115-6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-7 Gene small nucleolar RNA, C/D box 115-7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-4 Gene small nucleolar RNA, C/D box 115-4 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-1 Gene small nucleolar RNA, C/D box 115-1 This gene encodes a small nucleolar RNA (snoRNA) that is found clustered with dozens of other similar snoRNAs on chromosome 15. These genes are found mostly within introns of the IC-SNURF-SNRPN transcript, which is paternally imprinted and from the Prader-Willi/Angelman syndrome (PWS) region. This gene has been designated as copy 1 of the cluster and may be involved in the regulation of RNA editing and/or alternative splicing of the serotonin receptor 2C (HTR2C) transcript. This gene is not thought to play a major role in PWS. [provided by RefSeq, Jul 2008]
LOC100131425 Gene LSM5 homolog, U6 small* nuclear RNA associated (S. cerevisiae) pseudogene*
LOC100820733 Gene LSM2 homolog, U6 small* nuclear RNA associated (S. cerevisiae) pseudogene*
RNU7-1 Gene RNA, U7 small* nuclear 1* Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-46P Gene RNA, U6 small* nuclear 46, pseudogene*
SERF2 Gene small EDRK-rich factor 2 Involved in protein destabilization. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD45A Gene small nucleolar RNA, C/D box 45A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC101929101 Gene carboxy-terminal domain RNA polymerase II polypeptide A small* phosphatase 2 pseudogene*
SNORD111B Gene small nucleolar RNA, C/D box 111B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100631265 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
LOC100631267 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
LOC100631266 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
LOC100631268 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
RNU5E-6P Gene RNA, U5E small* nuclear 6, pseudogene*
RNU7-24P Gene RNA, U7 small* nuclear 24 pseudogene*
SNRPD3 Gene small nuclear ribonucleoprotein D3 polypeptide 18kDa This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SNRPD2 Gene small nuclear ribonucleoprotein D2 polypeptide 16.5kDa The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
SNRPD1 Gene small nuclear ribonucleoprotein D1 polypeptide 16kDa This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
MPHOSPH10 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein)* This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]
LOC100131877 Gene small EDRK-rich factor 2 pseudogene
RNU1-28P Gene RNA, U1 small* nuclear 28, pseudogene*
RNU1-13P Gene RNA, U1 small* nuclear 13, pseudogene*
RNU7-5P Gene RNA, U7 small* nuclear 5 pseudogene*
SPRR4 Gene small proline-rich protein 4 Predicted to be involved in keratinization. Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Mar 2025]
SPRR3 Gene small proline-rich protein 3 Predicted to enable structural molecule activity. Predicted to be involved in keratinocyte differentiation and wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
RNU6ATAC5P Gene RNA, U6atac small* nuclear 5, pseudogene*
LSM8 Gene LSM8 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* This gene encodes a member of the like-Sm family of proteins. The encoded protein consists of a closed barrel shape, made up of five anti-parallel beta strands and an alpha helix. This protein partners with six paralogs to form a heteroheptameric ring which transiently binds U6 small nuclear RNAs and is involved in the general maturation of RNA in the nucleus. [provided by RefSeq, Jan 2010]
LSM4 Gene LSM4 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
LSM5 Gene LSM5 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
LSM6 Gene LSM6 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
SNRPGP9 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 9
SNRPGP7 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 7
SNRPGP6 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 6
SNRPGP5 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 5
SNRPGP4 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 4
SNRPGP1 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 1
LOC100129534 Gene small nuclear ribonucleoprotein polypeptide N pseudogene
LOC101927923 Gene small integral membrane protein 12-like
LOC100131747 Gene small EDRK-rich factor 2 pseudogene
SNORD12C Gene small nucleolar RNA, C/D box 12C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD12B Gene small nucleolar RNA, C/D box 12B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD123 Gene small nucleolar RNA, C/D box 123 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD127 Gene small nucleolar RNA, C/D box 127 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD124 Gene small nucleolar RNA, C/D box 124 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-62P Gene RNA, U7 small* nuclear 62 pseudogene*
RNU6-79P Gene RNA, U6 small* nuclear 79, pseudogene*
RNU4-7P Gene RNA, U4 small* nuclear 7, pseudogene*
RNU6-8 Gene RNA, U6 small* nuclear 8* Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-9 Gene RNA, U6 small* nuclear 9* Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-7 Gene RNA, U6 small* nuclear 7* Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-1 Gene RNA, U6 small* nuclear 1* Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-2 Gene RNA, U6 small* nuclear 2* Predicted to enable U4 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U6 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-69P Gene RNA, U6 small* nuclear 69, pseudogene*
SNORA9 Gene small nucleolar RNA, H/ACA box 9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA8 Gene small nucleolar RNA, H/ACA box 8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA1 Gene small nucleolar RNA, H/ACA box 1 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA4 Gene small nucleolar RNA, H/ACA box 4 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA6 Gene small nucleolar RNA, H/ACA box 6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-20P Gene RNA, U1 small* nuclear 20, pseudogene*
LOC100421121 Gene small G protein signaling modulator 1 pseudogene
SMIM13 Gene small integral membrane protein 13 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM12 Gene small integral membrane protein 12 Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
SMIM11 Gene small integral membrane protein 11 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM10 Gene small integral membrane protein 10 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM17 Gene small integral membrane protein 17 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM15 Gene small integral membrane protein 15 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM14 Gene small integral membrane protein 14 Predicted to act upstream of or within blastocyst hatching. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]
SMIM19 Gene small integral membrane protein 19 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM18 Gene small integral membrane protein 18 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-47P Gene RNA, U7 small* nuclear 47 pseudogene*
RNU7-86P Gene RNA, U7 small* nuclear 86 pseudogene*
SNORD121B Gene small nucleolar RNA, C/D box 121B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD121A Gene small nucleolar RNA, C/D box 121A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-13P Gene RNA, U7 small* nuclear 13 pseudogene*
RNU6-36P Gene RNA, U6 small* nuclear 36, pseudogene*
RNU4ATAC2P Gene RNA, U4atac small* nuclear 2, pseudogene*
RNU6-64P Gene RNA, U6 small* nuclear 64, pseudogene*
SNRNP200 Gene small nuclear ribonucleoprotein 200kDa (U5) Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]
RNU5B-5P Gene RNA, U5B small* nuclear 5, pseudogene*
RNU6-63P Gene RNA, U6 small* nuclear 63, pseudogene*
SNORA74A Gene small nucleolar RNA, H/ACA box 74A Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]
SNORA74B Gene small nucleolar RNA, H/ACA box 74B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA74B, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
RNU7-54P Gene RNA, U7 small* nuclear 54 pseudogene*
RNU5A-2P Gene RNA, U5A small* nuclear 2, pseudogene*
SNORD115-43 Gene small nucleolar RNA, C/D box 115-43 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-41 Gene small nucleolar RNA, C/D box 115-41 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-47 Gene small nucleolar RNA, C/D box 115-47
SNORD1A Gene small nucleolar RNA, C/D box 1A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD1B Gene small nucleolar RNA, C/D box 1B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD1C Gene small nucleolar RNA, C/D box 1C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD16 Gene small nucleolar RNA, C/D box 16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD10 Gene small nucleolar RNA, C/D box 10 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD11 Gene small nucleolar RNA, C/D box 11 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD19 Gene small nucleolar RNA, C/D box 19 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-32P Gene RNA, U7 small* nuclear 32 pseudogene*
SNORD43 Gene small nucleolar RNA, C/D box 43 Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD43, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD43, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
SNORD46 Gene small nucleolar RNA, C/D box 46 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-6 Gene small nucleolar RNA, C/D box 116-6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-F Gene small ILF3/NF90-associated RNA F
SNAR-E Gene small ILF3/NF90-associated RNA E Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-D Gene small ILF3/NF90-associated RNA D
KCNN4 Gene potassium channel, calcium activated intermediate/small* conductance subfamily N alpha, member 4* The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
KCNN3 Gene potassium channel, calcium activated intermediate/small* conductance subfamily N alpha, member 3* Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
KCNN2 Gene potassium channel, calcium activated intermediate/small* conductance subfamily N alpha, member 2* Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
KCNN1 Gene potassium channel, calcium activated intermediate/small* conductance subfamily N alpha, member 1* Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]
RNU7-33P Gene RNA, U7 small* nuclear 33 pseudogene*
RNU5D-2P Gene RNA, U5D small* nuclear 2, pseudogene*
SNORA33 Gene small nucleolar RNA, H/ACA box 33 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA32 Gene small nucleolar RNA, H/ACA box 32 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA31 Gene small nucleolar RNA, H/ACA box 31 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. Implicated in brain disease. [provided by Alliance of Genome Resources, Mar 2025]
SNORA30 Gene small nucleolar RNA, H/ACA box 30 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA35 Gene small nucleolar RNA, H/ACA box 35 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA34 Gene small nucleolar RNA, H/ACA box 34 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA38 Gene small nucleolar RNA, H/ACA box 38 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-76P Gene RNA, U6 small* nuclear 76, pseudogene*
RNU7-27P Gene RNA, U7 small* nuclear 27 pseudogene*
SNRPCP9 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 9
SNRPCP8 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 8
SNRPCP3 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 3
SNRPCP2 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 2
SNRPCP7 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 7
SNRPCP4 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 4
SNAPC3 Gene small nuclear RNA activating complex, polypeptide 3, 50kDa Predicted to enable RNA polymerase III type 3 promoter sequence-specific DNA binding activity and bent DNA binding activity. Predicted to contribute to RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and core promoter sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNAPC2 Gene small nuclear RNA activating complex, polypeptide 2, 45kDa This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
SNAPC1 Gene small nuclear RNA activating complex, polypeptide 1, 43kDa Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in snRNA transcription by RNA polymerase II and snRNA transcription by RNA polymerase III. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
SNAPC5 Gene small nuclear RNA activating complex, polypeptide 5, 19kDa This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]
SNAPC4 Gene small nuclear RNA activating complex, polypeptide 4, 190kDa This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
SNORD98 Gene small nucleolar RNA, C/D box 98 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD99 Gene small nucleolar RNA, C/D box 99 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD94 Gene small nucleolar RNA, C/D box 94 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD95 Gene small nucleolar RNA, C/D box 95 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD97 Gene small nucleolar RNA, C/D box 97 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD92 Gene small nucleolar RNA, C/D box 92 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-21P Gene RNA, U6 small* nuclear 21, pseudogene*
UTP14A Gene UTP14, U3 small* nucleolar ribonucleoprotein, homolog A (yeast)* This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in ribosome biogenesis and 18S rRNA synthesis. An autosomal retrotransposed copy of this X-linked gene exists on chromosome 13. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
UTP14C Gene UTP14, U3 small* nucleolar ribonucleoprotein, homolog C (yeast)* Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU2-3P Gene RNA, U2 small* nuclear 3, pseudogene*
RNU7-75P Gene RNA, U7 small* nuclear 75 pseudogene*
RNU7-4P Gene RNA, U7 small* nuclear 4 pseudogene*
RN7SKP1 Gene RNA, 7SK small* nuclear pseudogene 1*
LOC102724525 Gene carboxy-terminal domain RNA polymerase II polypeptide A small* phosphatase 2 pseudogene*
RNU5A-8P Gene RNA, U5A small* nuclear 8, pseudogene*
RNU6-53P Gene RNA, U6 small* nuclear 53, pseudogene*
RNU6-39P Gene RNA, U6 small* nuclear 39, pseudogene*
RNU5F-6P Gene RNA, U5F small* nuclear 6, pseudogene*
SNAR-A8 Gene small ILF3/NF90-associated RNA A8 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU4-4P Gene RNA, U4 small* nuclear 4, pseudogene*
SNAR-G1 Gene small ILF3/NF90-associated RNA G1
SNAR-G2 Gene small ILF3/NF90-associated RNA G2 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-83P Gene RNA, U6 small* nuclear 83, pseudogene*
RNU1-27P Gene RNA, U1 small* nuclear 27, pseudogene*
RNU6-48P Gene RNA, U6 small* nuclear 48, pseudogene*
RNU1-18P Gene RNA, U1 small* nuclear 18, pseudogene*
SMIM23 Gene small integral membrane protein 23 Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM20 Gene small integral membrane protein 20 Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM21 Gene small integral membrane protein 21 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM24 Gene small integral membrane protein 24 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
RNU2-1 Gene RNA, U2 small* nuclear 1* The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3' region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported. [provided by RefSeq, Mar 2009]
RNU7-42P Gene RNA, U7 small* nuclear 42 pseudogene*
SNORD32A Gene small nucleolar RNA, C/D box 32A Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD32B Gene small nucleolar RNA, C/D box 32B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-85P Gene RNA, U7 small* nuclear 85 pseudogene*
SCLC1 Gene small cell cancer of the lung
SNORD17 Gene small nucleolar RNA, C/D box 17 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG5 Gene small nucleolar RNA host gene 5 This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017]
SNHG4 Gene small nucleolar RNA host gene 4
SNHG7 Gene small nucleolar RNA host gene 7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG6 Gene small nucleolar RNA host gene 6
SNHG1 Gene small nucleolar RNA host gene 1 This locus represents a small nucleolar RNA host gene that produces multiple alternatively spliced long non-coding RNAs. This gene is upregulated in cancers and is thought to act as promoter of cell proliferation. This transcript negatively regulates tumor suppressor genes such as tumor protein p53. Expression of this locus may be a marker of tumor progression. [provided by RefSeq, Dec 2017]
SNHG8 Gene small nucleolar RNA host gene 8
RNU7-28P Gene RNA, U7 small* nuclear 28 pseudogene*
RNU7-65P Gene RNA, U7 small* nuclear 65 pseudogene*
RNU7-38P Gene RNA, U7 small* nuclear 38 pseudogene*
SNORD15B Gene small nucleolar RNA, C/D box 15B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD15A Gene small nucleolar RNA, C/D box 15A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD3B-1 Gene small nucleolar RNA, C/D box 3B-1 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD3B-2 Gene small nucleolar RNA, C/D box 3B-2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100421673 Gene small nuclear ribonucleoprotein polypeptide B pseudogene
LOC100421672 Gene small nuclear ribonucleoprotein polypeptide B pseudogene
LOC101929749 Gene carboxy-terminal domain RNA polymerase II polypeptide A small* phosphatase 2 pseudogene*
TSKU Gene tsukushi, small* leucine rich proteoglycan* Predicted to enable transforming growth factor beta binding activity. Predicted to be involved in several processes, including cholesterol efflux; cholesterol homeostasis; and nervous system development. Predicted to act upstream of or within several processes, including ciliary body morphogenesis; negative regulation of Wnt signaling pathway; and telencephalon development. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]
LOC643802 Gene u3 small* nucleolar ribonucleoprotein protein MPP10-like*
SNORD83A Gene small nucleolar RNA, C/D box 83A Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
SNORD83B Gene small nucleolar RNA, C/D box 83B Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
SNORA71C Gene small nucleolar RNA, H/ACA box 71C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA71B Gene small nucleolar RNA, H/ACA box 71B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA71A Gene small nucleolar RNA, H/ACA box 71A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA71E Gene small nucleolar RNA, H/ACA box 71E Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-66P Gene RNA, U6 small* nuclear 66, pseudogene*
SNORD85 Gene small nucleolar RNA, C/D box 85 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-8P Gene RNA, U7 small* nuclear 8 pseudogene*
SNORD114-31 Gene small nucleolar RNA, C/D box 114-31 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-30 Gene small nucleolar RNA, C/D box 114-30 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMKR1 Gene small lysine-rich protein 1
LOC100820734 Gene LSM2 homolog, U6 small* nuclear RNA associated (S. cerevisiae) pseudogene*
RNU7-14P Gene RNA, U7 small* nuclear 14 pseudogene*
LOC729200 Gene small nuclear ribonucleoprotein polypeptide B pseudogene
RNVU1-17 Gene RNA, variant U1 small* nuclear 17* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-14 Gene RNA, variant U1 small* nuclear 14* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-15 Gene RNA, variant U1 small* nuclear 15* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-11 Gene RNA, variant U1 small* nuclear 11* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-18 Gene RNA, variant U1 small* nuclear 18* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-19 Gene RNA, variant U1 small* nuclear 19* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORD12 Gene small nucleolar RNA, C/D box 12 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-30P Gene RNA, U7 small* nuclear 30 pseudogene*
SNORD13 Gene small nucleolar RNA, C/D box 13 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM11P1 Gene small integral membrane protein 11 pseudogene 1
SNORA68 Gene small nucleolar RNA, H/ACA box 68 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA64 Gene small nucleolar RNA, H/ACA box 64 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA65 Gene small nucleolar RNA, H/ACA box 65 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA66 Gene small nucleolar RNA, H/ACA box 66 This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]
SNORA67 Gene small nucleolar RNA, H/ACA box 67 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA60 Gene small nucleolar RNA, H/ACA box 60 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA61 Gene small nucleolar RNA, H/ACA box 61 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA62 Gene small nucleolar RNA, H/ACA box 62 Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]
SNORA63 Gene small nucleolar RNA, H/ACA box 63 Predicted to be involved in RNA processing. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116@ Gene small nucleolar RNA, C/D box 116 cluster
SNAPC5P1 Gene small nuclear RNA activating complex, polypeptide 5, 19kDa pseudogene 1
SNRPGP13 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 13
SNRPGP12 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 12
SNRPGP11 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 11
SNRPGP14 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 14
SNORD116-25 Gene small nucleolar RNA, C/D box 116-25 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-27 Gene small nucleolar RNA, C/D box 116-27 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-21 Gene small nucleolar RNA, C/D box 116-21 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5E-8P Gene RNA, U5E small* nuclear 8, pseudogene*
RNU7-51P Gene RNA, U7 small* nuclear 51 pseudogene*
SNORD65 Gene small nucleolar RNA, C/D box 65 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD64 Gene small nucleolar RNA, C/D box 64 This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]
SNORD67 Gene small nucleolar RNA, C/D box 67 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD66 Gene small nucleolar RNA, C/D box 66 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD61 Gene small nucleolar RNA, C/D box 61 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in an intron of the RNA binding motif protein, X-linked gene (RBMX). [provided by RefSeq, Sep 2009]
SNORD60 Gene small nucleolar RNA, C/D box 60 Predicted to be involved in RNA processing. Predicted to act upstream of or within intracellular cholesterol transport. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD63 Gene small nucleolar RNA, C/D box 63 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD69 Gene small nucleolar RNA, C/D box 69 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD68 Gene small nucleolar RNA, C/D box 68 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-15P Gene RNA, U6 small* nuclear 15, pseudogene*
RNU2-4P Gene RNA, U2 small* nuclear 4, pseudogene*
RNU1-15P Gene RNA, U1 small* nuclear 15, pseudogene*
RNU5F-4P Gene RNA, U5F small* nuclear 4, pseudogene*
RNU6ATAC3P Gene RNA, U6atac small* nuclear 3, pseudogene*
SVIP Gene small VCP/p97-interacting protein Endoplasmic reticulum-associated degradation (ERAD) is the pathway by which misfolded proteins in the endoplasmic reticulum are targeted to the proteasome for degradation. Multiple specialized proteins interact with one another during ERAD to complete this process. The protein encoded by this gene is an inhibitor of ERAD, functioning to disrupt the interaction of these protein components. This downregulation of ERAD may be needed to protect the cell from overactive protein degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
SMIM22 Gene small integral membrane protein 22 Involved in several processes, including lipid droplet formation; positive regulation of cell migration; and regulation of actin cytoskeleton organization. Predicted to be located in late endosome and membrane. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-72P Gene RNA, U7 small* nuclear 72 pseudogene*
RNU6-56P Gene RNA, U6 small* nuclear 56, pseudogene*
SNORD114-20 Gene small nucleolar RNA, C/D box 114-20 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRPGP8 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 8
SNORD115-21 Gene small nucleolar RNA, C/D box 115-21 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-20 Gene small nucleolar RNA, C/D box 115-20 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-23 Gene small nucleolar RNA, C/D box 115-23 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-22 Gene small nucleolar RNA, C/D box 115-22 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-25 Gene small nucleolar RNA, C/D box 115-25 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-24 Gene small nucleolar RNA, C/D box 115-24 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-27 Gene small nucleolar RNA, C/D box 115-27 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-26 Gene small nucleolar RNA, C/D box 115-26 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-29 Gene small nucleolar RNA, C/D box 115-29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-28 Gene small nucleolar RNA, C/D box 115-28 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100131448 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase like 2 pseudogene*
RNU3P2 Gene RNA, U3 small* nucleolar pseudogene 2*
RNU3P3 Gene RNA, U3 small* nucleolar pseudogene 3* Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU3P1 Gene RNA, U3 small* nucleolar pseudogene 1*
RNU3P4 Gene RNA, U3 small* nucleolar pseudogene 4*
SNHG15 Gene small nucleolar RNA host gene 15 This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]
SNHG14 Gene small nucleolar RNA host gene 14 This gene is located within the Prader-Willi critical region and produces a long, spliced paternally-imprinted RNA that initiates within a common upstream promoter region shared by the SNRPN (small nuclear ribonucleoprotein polypeptide N) and SNURF genes. This transcript serves as a host RNA for the small nucleolar RNA, C/D box 115 and 116 clusters. This RNA extends in antisense into the region of the ubiquitin protein ligase E3A gene (UBE3A), and is thought to regulate imprinted expression of UBE3A in the brain. This transcript undergoes extensive alternative splicing, and may initiate and terminate at multiple locations within this genomic region. The full-length structure of all splice forms is not determined. [provided by RefSeq, Mar 2017]
SNHG17 Gene small nucleolar RNA host gene 17
SNHG16 Gene small nucleolar RNA host gene 16
SNHG11 Gene small nucleolar RNA host gene 11 This gene is a member of the non-protein-coding multiple snoRNA host gene family. Two snoRNAs are derived from the introns of this host gene. Although many alternative splice variants have been observed, the gene is thought to have no protein-coding potential. [provided by RefSeq, Jul 2008]
SNHG12 Gene small nucleolar RNA host gene 12 This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]
SNHG19 Gene small nucleolar RNA host gene 19
SNHG18 Gene small nucleolar RNA host gene 18
SNORA80E Gene small nucleolar RNA, H/ACA box 80E Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA80B Gene small nucleolar RNA, H/ACA box 80B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA80A Gene small nucleolar RNA, H/ACA box 80A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU4-9P Gene RNA, U4 small* nuclear 9, pseudogene*
RNU6-71P Gene RNA, U6 small* nuclear 71, pseudogene*
SNORA45A Gene small nucleolar RNA, H/ACA box 45A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-22P Gene RNA, U7 small* nuclear 22 pseudogene*
SNRPB2 Gene small nuclear ribonucleoprotein polypeptide B The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the presence of snRNP-A'. The encoded protein may play a role in pre-mRNA splicing. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ASH2LP1 Gene ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene 1
RNU7-59P Gene RNA, U7 small* nuclear 59 pseudogene*
SNORD88A Gene small nucleolar RNA, C/D box 88A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD88B Gene small nucleolar RNA, C/D box 88B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD88C Gene small nucleolar RNA, C/D box 88C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-26P Gene RNA, U6 small* nuclear 26, pseudogene*
UTP11L Gene UTP11-like, U3 small* nucleolar ribonucleoprotein (yeast)* Enables RNA binding activity. Involved in nervous system development; positive regulation of apoptotic process; and ribosomal small subunit biogenesis. Located in cytoplasm; extracellular space; and nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-10P Gene RNA, U6 small* nuclear 10, pseudogene*
SNORD114-1 Gene small nucleolar RNA, C/D box 114-1 Small nucleolar RNAs (snoRNAs), like SNORD114-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD114-1 is 1 of 31 tandem SNORD114 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]
SNORD114-6 Gene small nucleolar RNA, C/D box 114-6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-5 Gene small nucleolar RNA, C/D box 114-5 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-4 Gene small nucleolar RNA, C/D box 114-4 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
ASH1L Gene ash1 (absent, small, or homeotic)-like (Drosophila) This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
RNU7-41P Gene RNA, U7 small* nuclear 41 pseudogene*
SCARNA27 Gene small Cajal body-specific RNA 27
SCARNA22 Gene small Cajal body-specific RNA 22 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA23 Gene small Cajal body-specific RNA 23 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA20 Gene small Cajal body-specific RNA 20 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA21 Gene small Cajal body-specific RNA 21 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6ATAC4P Gene RNA, U6atac small* nuclear 4, pseudogene*
RNU1-3 Gene RNA, U1 small* nuclear 3* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-2 Gene RNA, U1 small* nuclear 2* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-31P Gene RNA, U6 small* nuclear 31, pseudogene*
SNORD115-5 Gene small nucleolar RNA, C/D box 115-5 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-2 Gene small nucleolar RNA, C/D box 115-2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-3 Gene small nucleolar RNA, C/D box 115-3 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-8 Gene small nucleolar RNA, C/D box 115-8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-9 Gene small nucleolar RNA, C/D box 115-9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD101 Gene small nucleolar RNA, C/D box 101 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD100 Gene small nucleolar RNA, C/D box 100 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD102 Gene small nucleolar RNA, C/D box 102 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD105 Gene small nucleolar RNA, C/D box 105 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD104 Gene small nucleolar RNA, C/D box 104 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD107 Gene small nucleolar RNA, C/D box 107 Small nucleolar RNAs (snoRNAs) are small non-coding RNAs involved in RNA processing. Box C/D class snoRNAs are involved in site-specific 2-prime-O-ribose methylation of preribosomal RNA precursors. This snoRNA is located in a cluster of genes including the SNURF-SNRPN gene, which serves as a host for multiple snoRNAs. [provided by RefSeq, Oct 2011]
SNORD108 Gene small nucleolar RNA, C/D box 108 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-60P Gene RNA, U7 small* nuclear 60 pseudogene*
LOC441722 Gene U2 small* nuclear RNA auxiliary factor 1-like 4 pseudogene*
SNORD23 Gene small nucleolar RNA, C/D box 23 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-B2 Gene small ILF3/NF90-associated RNA B2 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-B1 Gene small ILF3/NF90-associated RNA B1 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5B-3P Gene RNA, U5B small* nuclear 3, pseudogene*
LOC100631374 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
SNRNP40 Gene small nuclear ribonucleoprotein 40kDa (U5) This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
SNRNP48 Gene small nuclear ribonucleoprotein 48kDa (U11/U12) Predicted to enable metal ion binding activity. Predicted to be involved in RNA splicing. Located in cytosol and nucleoplasm. Part of U12-type spliceosomal complex. [provided by Alliance of Genome Resources, Mar 2025]
CDC42SE2 Gene CDC42 small* effector 2* Enables signaling adaptor activity. Involved in regulation of signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
CDC42SE1 Gene CDC42 small* effector 1* Predicted to enable GTPase inhibitor activity. Predicted to be involved in signal transduction. Located in cell junction. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-22P Gene RNA, U1 small* nuclear 22, pseudogene*
SCARNA5 Gene small Cajal body-specific RNA 5 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA4 Gene small Cajal body-specific RNA 4 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMAGP Gene small cell adhesion glycoprotein Located in cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
RN7SKP8 Gene RNA, 7SK small* nuclear pseudogene 8*
RN7SKP9 Gene RNA, 7SK small* nuclear pseudogene 9*
RN7SKP6 Gene RNA, 7SK small* nuclear pseudogene 6*
RN7SKP7 Gene RNA, 7SK small* nuclear pseudogene 7*
RN7SKP4 Gene RNA, 7SK small* nuclear pseudogene 4*
RN7SKP5 Gene RNA, 7SK small* nuclear pseudogene 5*
RN7SKP2 Gene RNA, 7SK small* nuclear pseudogene 2*
RN7SKP3 Gene RNA, 7SK small* nuclear pseudogene 3*
SCARNA2 Gene small Cajal body-specific RNA 2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG3 Gene small nucleolar RNA host gene 3 Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM2 Gene small integral membrane protein 2 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM1 Gene small integral membrane protein 1 (Vel blood group) This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]
SNHG9 Gene small nucleolar RNA host gene 9
RNU7-80P Gene RNA, U7 small* nuclear 80 pseudogene*
RNU7-11P Gene RNA, U7 small* nuclear 11 pseudogene*
LOC643605 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase like 2 pseudogene*
RNU7-35P Gene RNA, U7 small* nuclear 35 pseudogene*
SNORD45C Gene small nucleolar RNA, C/D box 45C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD45B Gene small nucleolar RNA, C/D box 45B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-68P Gene RNA, U7 small* nuclear 68 pseudogene*
SNORD18A Gene small nucleolar RNA, C/D box 18A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD18C Gene small nucleolar RNA, C/D box 18C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD18B Gene small nucleolar RNA, C/D box 18B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA53 Gene small nucleolar RNA, H/ACA box 53 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM10L1 Gene small integral membrane protein 10 like 1 Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
SNORA76C Gene small nucleolar RNA, H/ACA box 76C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA76A Gene small nucleolar RNA, H/ACA box 76A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-52P Gene RNA, U7 small* nuclear 52 pseudogene*
RNU5A-4P Gene RNA, U5A small* nuclear 4, pseudogene*
SNORD3D Gene small nucleolar RNA, C/D box 3D Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD3@ Gene small nucleolar RNA, C/D box 3 cluster
SNORD3A Gene small nucleolar RNA, C/D box 3A U3 RNA, an abundant small nucleolar RNA (snoRNA), is thought to play a role in the processing of ribosomal RNA precursors (Bernstein et al., 1983 [PubMed 6186397]).[supplied by OMIM, Jun 2009]
SNORD37 Gene small nucleolar RNA, C/D box 37 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD34 Gene small nucleolar RNA, C/D box 34 Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD33 Gene small nucleolar RNA, C/D box 33 Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD30 Gene small nucleolar RNA, C/D box 30 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD31 Gene small nucleolar RNA, C/D box 31 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-45P Gene RNA, U6 small* nuclear 45, pseudogene*
RNU6-34P Gene RNA, U6 small* nuclear 34, pseudogene*
LSM1P1 Gene LSM1, U6 small* nuclear RNA associated pseudogene 1*
LOC102724677 Gene carboxy-terminal domain RNA polymerase II polypeptide A small* phosphatase 2 pseudogene*
RNU6-55P Gene RNA, U6 small* nuclear 55, pseudogene*
SNORA19 Gene small nucleolar RNA, H/ACA box 19 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA18 Gene small nucleolar RNA, H/ACA box 18 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA15 Gene small nucleolar RNA, H/ACA box 15 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA17 Gene small nucleolar RNA, H/ACA box 17 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA12 Gene small nucleolar RNA, H/ACA box 12 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
RNU5F-7P Gene RNA, U5F small* nuclear 7, pseudogene* Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-19P Gene RNA, U7 small* nuclear 19 pseudogene*
RNU7-78P Gene RNA, U7 small* nuclear 78 pseudogene*
RNU4ATAC Gene RNA, U4atac small* nuclear (U12-dependent splicing)* The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]
RNU7-25P Gene RNA, U7 small* nuclear 25 pseudogene*
RNU7-81P Gene RNA, U7 small* nuclear 81 pseudogene*
SNAR-C3 Gene small ILF3/NF90-associated RNA C3 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-23P Gene RNA, U6 small* nuclear 23, pseudogene*
RNU7-10P Gene RNA, U7 small* nuclear 10 pseudogene*
CTDSP1 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase 1* This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
CTDSP2 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase 2* Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Involved in protein dephosphorylation. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
CTDSPL Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase-like* Predicted to enable RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of G1/S transition of mitotic cell cycle and negative regulation of protein phosphorylation. Located in extracellular exosome. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-20P Gene RNA, U7 small* nuclear 20 pseudogene*
SNORD116-10 Gene small nucleolar RNA, C/D box 116-10 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-12 Gene small nucleolar RNA, C/D box 116-12 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-6P Gene RNA, U7 small* nuclear 6 pseudogene*
RNU7-77P Gene RNA, U7 small* nuclear 77 pseudogene*
RN7SK Gene RNA, 7SK small* nuclear* Predicted to be involved in negative regulation of transcription elongation by RNA polymerase II. Part of 7SK snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORA36A Gene small nucleolar RNA, H/ACA box 36A Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residues U105 and U1244 of 18S rRNA. [provided by RefSeq, Feb 2009]
SNAR-A14 Gene small ILF3/NF90-associated RNA A14 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A11 Gene small ILF3/NF90-associated RNA A11 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A10 Gene small ILF3/NF90-associated RNA A10 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD3C Gene small nucleolar RNA, C/D box 3C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD105B Gene small nucleolar RNA, C/D box 105B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5D-1 Gene RNA, U5D small* nuclear 1* Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU4-6P Gene RNA, U4 small* nuclear 6, pseudogene*
SNORA71D Gene small nucleolar RNA, H/ACA box 71D Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100303749 Gene LSM3 homolog, U6 small* nuclear RNA associated (S. cerevisiae) pseudogene*
SNAR-A3 Gene small ILF3/NF90-associated RNA A3 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A2 Gene small ILF3/NF90-associated RNA A2 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A7 Gene small ILF3/NF90-associated RNA A7 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A6 Gene small ILF3/NF90-associated RNA A6 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A5 Gene small ILF3/NF90-associated RNA A5 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-A4 Gene small ILF3/NF90-associated RNA A4 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA16A Gene small nucleolar RNA, H/ACA box 16A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRNP70 Gene small nuclear ribonucleoprotein 70kDa (U1) Enables U1 snRNA binding activity. Involved in mRNA splicing, via spliceosome and regulation of RNA splicing. Located in nucleoplasm. Part of U1 snRNP and spliceosomal complex. Implicated in disease of mental health and systemic lupus erythematosus. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-49P Gene RNA, U7 small* nuclear 49 pseudogene*
RNU5E-1 Gene RNA, U5E small* nuclear 1* Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORD70 Gene small nucleolar RNA, C/D box 70 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-21P Gene RNA, U1 small* nuclear 21, pseudogene*
LOC100421863 Gene ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene
RNU7-44P Gene RNA, U7 small* nuclear 44 pseudogene*
SNORD116-5 Gene small nucleolar RNA, C/D box 116-5 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-7 Gene small nucleolar RNA, C/D box 116-7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-87P Gene RNA, U7 small* nuclear 87 pseudogene*
RNU7-12P Gene RNA, U7 small* nuclear 12 pseudogene*
RNU6ATAC Gene RNA, U6atac small* nuclear (U12-dependent splicing)* Predicted to enable U4atac snRNA binding activity and pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition and spliceosomal tri-snRNP complex assembly. Predicted to be part of U6atac snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORD62B Gene small nucleolar RNA, C/D box 62B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM12P1 Gene small integral membrane protein 12 pseudogene 1
SNORA11 Gene small nucleolar RNA, H/ACA box 11 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA11, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA10 Gene small nucleolar RNA, H/ACA box 10 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA13 Gene small nucleolar RNA, H/ACA box 13 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC102724822 Gene carboxy-terminal domain RNA polymerase II polypeptide A small* phosphatase 2 pseudogene*
SNORD126 Gene small nucleolar RNA, C/D box 126 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD125 Gene small nucleolar RNA, C/D box 125 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC105377886 Gene small EDRK-rich factor 2 pseudogene
RSG1 Gene REM2 and RAB-like small* GTPase 1* Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]
RNU5B-6P Gene RNA, U5B small* nuclear 6, pseudogene*
SNORA73A Gene small nucleolar RNA, H/ACA box 73A Predicted to be involved in RNA processing. Located in nucleus. Part of box H/ACA RNP complex. [provided by Alliance of Genome Resources, Mar 2025]
SNORA73B Gene small nucleolar RNA, H/ACA box 73B
RNU7-57P Gene RNA, U7 small* nuclear 57 pseudogene*
RNU6-52P Gene RNA, U6 small* nuclear 52, pseudogene*
RAC2 Gene ras-related C3 botulinum toxin substrate 2 (rho family, small* GTP binding protein Rac2)* This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
RAC3 Gene ras-related C3 botulinum toxin substrate 3 (rho family, small* GTP binding protein Rac3)* The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
RAC1 Gene ras-related C3 botulinum toxin substrate 1 (rho family, small* GTP binding protein Rac1)* The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
SNAR-A12 Gene small ILF3/NF90-associated RNA A12 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-88P Gene RNA, U7 small* nuclear 88 pseudogene*
RN7SKP10 Gene RNA, 7SK small* nuclear pseudogene 10*
BA395L14.12 Gene small nuclear ribonucleoprotein polypeptide A' pseudogene
RNU6-58P Gene RNA, U6 small* nuclear 58, pseudogene*
RNU5E-9P Gene RNA, U5E small* nuclear 9, pseudogene*
SNORD113-1 Gene small nucleolar RNA, C/D box 113-1 Small nucleolar RNAs (snoRNAs), like SNORD113-1, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site. SNORD113-1 is 1 of 9 tandem SNORD113 genes on chromosome 14q32 (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]
SNORD113-3 Gene small nucleolar RNA, C/D box 113-3 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-42 Gene small nucleolar RNA, C/D box 115-42 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-40 Gene small nucleolar RNA, C/D box 115-40 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-46 Gene small nucleolar RNA, C/D box 115-46 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-45 Gene small nucleolar RNA, C/D box 115-45 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-44 Gene small nucleolar RNA, C/D box 115-44 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-48 Gene small nucleolar RNA, C/D box 115-48 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD42B Gene small nucleolar RNA, C/D box 42B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD42A Gene small nucleolar RNA, C/D box 42A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA46 Gene small nucleolar RNA, H/ACA box 46 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA47 Gene small nucleolar RNA, H/ACA box 47 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA44 Gene small nucleolar RNA, H/ACA box 44 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA43 Gene small nucleolar RNA, H/ACA box 43 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA40 Gene small nucleolar RNA, H/ACA box 40 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA41 Gene small nucleolar RNA, H/ACA box 41 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA48 Gene small nucleolar RNA, H/ACA box 48 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA49 Gene small nucleolar RNA, H/ACA box 49 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114@ Gene small nucleolar RNA, C/D box 114 cluster
RNU7-73P Gene RNA, U7 small* nuclear 73 pseudogene*
RNU6V Gene RNA, U6 small* nuclear variant sequence with SNRPE pseudogene sequence*
SNORD58A Gene small nucleolar RNA, C/D box 58A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD58C Gene small nucleolar RNA, C/D box 58C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD58B Gene small nucleolar RNA, C/D box 58B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD89 Gene small nucleolar RNA, C/D box 89 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD87 Gene small nucleolar RNA, C/D box 87 Small nucleolar RNAs (snoRNAs) of the C/D class, such as SNORD87, are involved in 2-prime-methylation of preribosomal RNA precursors (Gogolevskaya et al., 2002 [PubMed 12119114]).[supplied by OMIM, Aug 2008]
SNORD86 Gene small nucleolar RNA, C/D box 86 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD84 Gene small nucleolar RNA, C/D box 84 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD82 Gene small nucleolar RNA, C/D box 82 The majority of small nucleolar RNAs (snoRNAs) function as guide RNAs in the nucleotide modification of preribosomal RNA (pre-rRNA). C/D box snoRNAs, like SNORD82, are involved in site-specific 2-prime-O-ribose methylation of pre-rRNA (Rebane and Metspalu, 1999 [PubMed 10524220]).[supplied by OMIM, Mar 2008]
SNORD81 Gene small nucleolar RNA, C/D box 81 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD80 Gene small nucleolar RNA, C/D box 80 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5E-5P Gene RNA, U5E small* nuclear 5, pseudogene*
SGTB Gene small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta Predicted to enable molecular adaptor activity. Predicted to be involved in post-translational protein targeting to endoplasmic reticulum membrane. Predicted to be part of TRC complex. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SGTA Gene small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]
SNRPGP10 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 10
SNRPGP15 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 15 Predicted to contribute to RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in nucleus. Predicted to be part of SMN-Sm protein complex and nucleus. Predicted to be active in P granule. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-17P Gene RNA, U1 small* nuclear 17, pseudogene*
RNU2-2P Gene RNA, U2 small* nuclear 2, pseudogene*
RNU5F-2P Gene RNA, U5F small* nuclear 2, pseudogene*
RNU7-74P Gene RNA, U7 small* nuclear 74 pseudogene*
RNU6-50P Gene RNA, U6 small* nuclear 50, pseudogene*
SMIM3 Gene small integral membrane protein 3 Enables identical protein binding activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM7 Gene small integral membrane protein 7 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM6 Gene small integral membrane protein 6 Predicted to act upstream of or within negative regulation of ATPase-coupled calcium transmembrane transporter activity. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM5 Gene small integral membrane protein 5 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM4 Gene small integral membrane protein 4 Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM9 Gene small integral membrane protein 9 Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM8 Gene small integral membrane protein 8 Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-36 Gene small nucleolar RNA, C/D box 115-36 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-37 Gene small nucleolar RNA, C/D box 115-37 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-33 Gene small nucleolar RNA, C/D box 115-33 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-30 Gene small nucleolar RNA, C/D box 115-30 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-31 Gene small nucleolar RNA, C/D box 115-31 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5E-2P Gene RNA, U5E small* nuclear 2, pseudogene*
SNORD50A Gene small nucleolar RNA, C/D box 50A SNORD50A belongs to the C/D box class of small nucleolar RNAs (snoRNAs), which are thought to function as guide RNAs in the site-specific ribose methylation of preribosomal RNA (Kiss-Laszlo et al., 1996 [PubMed 8674114]).[supplied by OMIM, Nov 2009]
SNORD50B Gene small nucleolar RNA, C/D box 50B SNORD50B is a C/D box-type small nucleolar RNA (snoRNA) that is predicted to function as a guide RNA in 2-prime O-methylation of 28S ribosomal RNA (Tanaka et al., 2000 [PubMed 10792466]).[supplied by OMIM, Feb 2010]
SNORA16B Gene small nucleolar RNA, H/ACA box 16B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRNP25 Gene small nuclear ribonucleoprotein 25kDa (U11/U12) Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]
SNRNP27 Gene small nuclear ribonucleoprotein 27kDa (U4/U6.U5) This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
RNU6-82P Gene RNA, U6 small* nuclear 82, pseudogene*
RNU1-24P Gene RNA, U1 small* nuclear 24, pseudogene*
RNU7-43P Gene RNA, U7 small* nuclear 43 pseudogene*
SNORA11E Gene small nucleolar RNA, H/ACA box 11E Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SPRR1A Gene small proline-rich protein 1A A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Mar 2025]
SPRR1B Gene small proline-rich protein 1B The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]
SERF1A Gene small EDRK-rich factor 1A (telomeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]
SERF1B Gene small EDRK-rich factor 1B (centromeric) This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]
RNU7-66P Gene RNA, U7 small* nuclear 66 pseudogene*
RNU6-19P Gene RNA, U6 small* nuclear 19, pseudogene*
LOC100736412 Gene ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene
SNORA69 Gene small nucleolar RNA, H/ACA box 69 This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3' end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009]
RNU4-3P Gene RNA, U4 small* nuclear 3, pseudogene*
RNU6-16P Gene RNA, U6 small* nuclear 16, pseudogene*
IMP3 Gene IMP3, U3 small* nucleolar ribonucleoprotein* This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]
IMP4 Gene IMP4, U3 small* nucleolar ribonucleoprotein* The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
SNORA70B Gene small nucleolar RNA, H/ACA box 70B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA70D Gene small nucleolar RNA, H/ACA box 70D Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA70E Gene small nucleolar RNA, H/ACA box 70E Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA70F Gene small nucleolar RNA, H/ACA box 70F Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA70G Gene small nucleolar RNA, H/ACA box 70G Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-9P Gene RNA, U7 small* nuclear 9 pseudogene*
RNU7-82P Gene RNA, U7 small* nuclear 82 pseudogene*
RNU7-17P Gene RNA, U7 small* nuclear 17 pseudogene*
RNU105B Gene RNA, U105B small* nucleolar* Predicted to be involved in RNA processing. Predicted to act upstream of or within response to bacterium. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC401703 Gene U2 small* nuclear RNA auxiliary factor 1-like 4 pseudogene*
RNU6-6P Gene RNA, U6 small* nuclear 6, pseudogene* Predicted to be located in nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]
SMIM10L2B Gene small integral membrane protein 10 like 2B
RNVU1-20 Gene RNA, variant U1 small* nuclear 20* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
LOC100736411 Gene ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene
RNU4-1 Gene RNA, U4 small* nuclear 1* Predicted to enable U6 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4 snRNP and U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-37P Gene RNA, U7 small* nuclear 37 pseudogene*
SNORA7B Gene small nucleolar RNA, H/ACA box 7B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA7A Gene small nucleolar RNA, H/ACA box 7A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA79 Gene small nucleolar RNA, H/ACA box 79 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA78 Gene small nucleolar RNA, H/ACA box 78 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA77 Gene small nucleolar RNA, H/ACA box 77 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA75 Gene small nucleolar RNA, H/ACA box 75 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA72 Gene small nucleolar RNA, H/ACA box 72 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA70 Gene small nucleolar RNA, H/ACA box 70 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD49B Gene small nucleolar RNA, C/D box 49B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100130001 Gene small nuclear ribonucleoprotein polypeptide B pseudogene
SNORD116-30 Gene small nucleolar RNA, C/D box 116-30 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-18P Gene RNA, U7 small* nuclear 18 pseudogene*
RNU86 Gene RNA, U86 small* nucleolar* Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like U86, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like U86, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
HSPB11 Gene heat shock protein family B (small), member 11 Predicted to enable metal ion binding activity. Predicted to be involved in kidney development; smoothened signaling pathway; and spermatogenesis. Predicted to act upstream of or within several processes, including left/right axis specification; lung development; and skeletal system development. Part of intraciliary transport particle B. [provided by Alliance of Genome Resources, Mar 2025]
SNORD51 Gene small nucleolar RNA, C/D box 51 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD52 Gene small nucleolar RNA, C/D box 52 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD53 Gene small nucleolar RNA, C/D box 53 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD54 Gene small nucleolar RNA, C/D box 54 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD55 Gene small nucleolar RNA, C/D box 55 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD57 Gene small nucleolar RNA, C/D box 57 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-24 Gene small nucleolar RNA, C/D box 116-24 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-26 Gene small nucleolar RNA, C/D box 116-26 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-22 Gene small nucleolar RNA, C/D box 116-22 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-23 Gene small nucleolar RNA, C/D box 116-23 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-14P Gene RNA, U1 small* nuclear 14, pseudogene*
SNORD116-28 Gene small nucleolar RNA, C/D box 116-28
LOC150417 Gene small nuclear ribonucleoprotein polypeptide A' pseudogene
RNU6ATAC2P Gene RNA, U6atac small* nuclear 2, pseudogene*
RNU5F-5P Gene RNA, U5F small* nuclear 5, pseudogene*
SNRPA1 Gene small nuclear ribonucleoprotein polypeptide A' Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and spermatogenesis. Located in nuclear speck. Part of U2-type catalytic step 2 spliceosome and U2-type precatalytic spliceosome. Implicated in connective tissue disease. [provided by Alliance of Genome Resources, Mar 2025]
UTP15 Gene UTP15, U3 small* nucleolar ribonucleoprotein, homolog (S. cerevisiae)* Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in endoplasmic reticulum and fibrillar center. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA9L Gene small Cajal body-specific RNA 9-like Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-71P Gene RNA, U7 small* nuclear 71 pseudogene*
SNORA36B Gene small nucleolar RNA, H/ACA box 36B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA36C Gene small nucleolar RNA, H/ACA box 36C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-3 Gene RNA, variant U1 small* nuclear 3* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-68P Gene RNA, U6 small* nuclear 68, pseudogene*
RNU6-57P Gene RNA, U6 small* nuclear 57, pseudogene*
SNORD115-18 Gene small nucleolar RNA, C/D box 115-18 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-19 Gene small nucleolar RNA, C/D box 115-19 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-15 Gene small nucleolar RNA, C/D box 115-15 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-11 Gene small nucleolar RNA, C/D box 115-11 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-12 Gene small nucleolar RNA, C/D box 115-12 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-13 Gene small nucleolar RNA, C/D box 115-13 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-14 Gene small nucleolar RNA, C/D box 114-14 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD73B Gene small nucleolar RNA, C/D box U73B (pseudogene) Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD73A Gene small nucleolar RNA, C/D box 73A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-I Gene small ILF3/NF90-associated RNA I
LSM7 Gene LSM7 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
LSM1 Gene LSM1, U6 small* nuclear RNA associated* This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]
LSM2 Gene LSM2 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3'-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]
RNU6-72P Gene RNA, U6 small* nuclear 72, pseudogene*
RNU5E-7P Gene RNA, U5E small* nuclear 7, pseudogene*
RNU12 Gene RNA, U12 small* nuclear* Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in negative regulation of neuron apoptotic process. Predicted to act upstream of or within RNA splicing. Predicted to be part of U12 snRNP. Implicated in autosomal recessive spinocerebellar ataxia 33. [provided by Alliance of Genome Resources, Mar 2025]
RNU11 Gene RNA, U11 small* nuclear* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to act upstream of or within RNA splicing. Predicted to be part of U11 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU4-8P Gene RNA, U4 small* nuclear 8, pseudogene*
RNU7-58P Gene RNA, U7 small* nuclear 58 pseudogene*
RNU5A-7P Gene RNA, U5A small* nuclear 7, pseudogene*
RNU7-23P Gene RNA, U7 small* nuclear 23 pseudogene*
SNORD109A Gene small nucleolar RNA, C/D box 109A This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]
SNORD109B Gene small nucleolar RNA, C/D box 109B This gene encodes a C/D box-type small nucleolar RNA that is expressed predominantly in the brain. Expression of this RNA is not detectable in the brains of patients with Prader-Willi syndrome. [provided by RefSeq, Jun 2010]
SNORA70C Gene small nucleolar RNA, H/ACA box 70C This gene produces a small nucleolar RNA (snoRNA) that plays a role in post-transcriptional modification. This snoRNA is a type-3 retrotransposed snoRNA, where the ribosomal protein L10 gene on chromosome X is its parental gene, and this, together with part of the parental gene, was subsequently mobilized into an intron of the astrotactin 2 host gene on chromosome 9. This snoRNA contains a H/ACA box, which serves as a guide for the pseudouridylation of selected bases of ribosomal RNA by forming short duplexes with the 18S rRNA U1692, the target for this snoRNA. This gene is specific to human, chimp and orangutan, and is not found in the genomes of rhesus or marmoset. [provided by RefSeq, Jun 2010]
SNRPEP9 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 9
SNRPEP8 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 8
SNRPEP5 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 5
SNRPEP4 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 4
SNRPEP7 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 7
SNRPEP6 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 6
SNRPEP1 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 1
SNRPEP3 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 3
SNRPEP2 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 2
SNORA51 Gene small nucleolar RNA, H/ACA box 51 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA11D Gene small nucleolar RNA, H/ACA box 11D Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRPCP1 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 1
SCARNA13 Gene small Cajal body-specific RNA 13 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA12 Gene small Cajal body-specific RNA 12 This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010]
SCARNA11 Gene small Cajal body-specific RNA 11 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA10 Gene small Cajal body-specific RNA 10 Predicted to be involved in RNA processing. Located in Cajal body. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA17 Gene small Cajal body-specific RNA 17 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA16 Gene small Cajal body-specific RNA 16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA15 Gene small Cajal body-specific RNA 15 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA14 Gene small Cajal body-specific RNA 14 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA18 Gene small Cajal body-specific RNA 18 Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SMAP1 Gene small ArfGAP 1 The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SMAP2 Gene small ArfGAP2 Predicted to enable GTPase activator activity. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-89P Gene RNA, U7 small* nuclear 89 pseudogene*
LOC101929087 Gene small ubiquitin-related modifier 2-like
SNORA45B Gene small nucleolar RNA, H/ACA box 45B Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA21 Gene small nucleolar RNA, H/ACA box 21 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA24 Gene small nucleolar RNA, H/ACA box 24 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA28 Gene small nucleolar RNA, H/ACA box 28 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA29 Gene small nucleolar RNA, H/ACA box 29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD118 Gene small nucleolar RNA, C/D box 118 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD119 Gene small nucleolar RNA, C/D box 119
SNORD117 Gene small nucleolar RNA, C/D box 117 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD112 Gene small nucleolar RNA, C/D box 112 Small nucleolar RNAs (snoRNAs), like SNORD112, guide the formation of 2-prime O-methylation of ribosomal RNA (rRNA) and U small nuclear RNAs (snRNAs) through a specific RNA duplex at each modification site (Cavaille et al., 2002 [PubMed 12045206]).[supplied by OMIM, Nov 2010]
SNORD110 Gene small nucleolar RNA, C/D box 110 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD111 Gene small nucleolar RNA, C/D box 111 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-61P Gene RNA, U7 small* nuclear 61 pseudogene*
SNORD11B Gene small nucleolar RNA, C/D box 11B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-63P Gene RNA, U7 small* nuclear 63 pseudogene*
SNRPGP2 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 2
SNAR-C5 Gene small ILF3/NF90-associated RNA C5 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-C4 Gene small ILF3/NF90-associated RNA C4 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-C1 Gene small ILF3/NF90-associated RNA C1 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-C2 Gene small ILF3/NF90-associated RNA C2 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU12-2P Gene RNA, U12 small* nuclear 2, pseudogene*
SCARNA9 Gene small Cajal body-specific RNA 9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA8 Gene small Cajal body-specific RNA 8 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA7 Gene small Cajal body-specific RNA 7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA3 Gene small Cajal body-specific RNA 3 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SCARNA1 Gene small Cajal body-specific RNA 1 Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRPEP10 Gene small nuclear ribonucleoprotein polypeptide E pseudogene 10
RNU7-46P Gene RNA, U7 small* nuclear 46 pseudogene*
SNORD36A Gene small nucleolar RNA, C/D box 36A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD36C Gene small nucleolar RNA, C/D box 36C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD36B Gene small nucleolar RNA, C/D box 36B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5A-1 Gene RNA, U5A small* nuclear 1* Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORA38B Gene small nucleolar RNA, H/ACA box 38B Predicted to be involved in RNA processing. Predicted to be located in Cajal body and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-35P Gene RNA, U6 small* nuclear 35, pseudogene*
SNRPD2P2 Gene small nuclear ribonucleoprotein D2 pseudogene 2
SNRPD2P1 Gene small nuclear ribonucleoprotein D2 pseudogene 1
SNORD116-9 Gene small nucleolar RNA, C/D box 116-9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-8 Gene small nucleolar RNA, C/D box 116-8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-4 Gene small nucleolar RNA, C/D box 116-4 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-1 Gene small nucleolar RNA, C/D box 116-1 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-3 Gene small nucleolar RNA, C/D box 116-3 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-2 Gene small nucleolar RNA, C/D box 116-2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-40P Gene RNA, U7 small* nuclear 40 pseudogene*
RNU7-69P Gene RNA, U7 small* nuclear 69 pseudogene*
RNU7-34P Gene RNA, U7 small* nuclear 34 pseudogene*
SNORD19B Gene small nucleolar RNA, C/D box 19B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5B-4P Gene RNA, U5B small* nuclear 4, pseudogene*
RNU7-55P Gene RNA, U7 small* nuclear 55 pseudogene*
RNU5A-3P Gene RNA, U5A small* nuclear 3, pseudogene*
SNORD21 Gene small nucleolar RNA, C/D box 21 This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009]
SNORD20 Gene small nucleolar RNA, C/D box 20 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD22 Gene small nucleolar RNA, C/D box 22 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD25 Gene small nucleolar RNA, C/D box 25
SNORD24 Gene small nucleolar RNA, C/D box 24 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD27 Gene small nucleolar RNA, C/D box 27 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD26 Gene small nucleolar RNA, C/D box 26 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD29 Gene small nucleolar RNA, C/D box 29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD28 Gene small nucleolar RNA, C/D box 28 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU105C Gene RNA, U105C small* nucleolar* Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422088 Gene ash2 (absent, small, or homeotic)-like (Drosophila) pseudogene
SNAR-A9 Gene small ILF3/NF90-associated RNA A9 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-26P Gene RNA, U7 small* nuclear 26 pseudogene*
SNAR-A1 Gene small ILF3/NF90-associated RNA A1 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SNRPN Gene small nuclear ribonucleoprotein polypeptide N This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
SNRPB Gene small nuclear ribonucleoprotein polypeptides B and B1 The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]
SNRPC Gene small nuclear ribonucleoprotein polypeptide C This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]
SNRPA Gene small nuclear ribonucleoprotein polypeptide A The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5' splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]
SNRPF Gene small nuclear ribonucleoprotein polypeptide F Enables RNA binding activity. Involved in spliceosomal snRNP assembly. Located in cytosol and nucleus. Part of several cellular components, including methylosome; nucleus; and pICln-Sm protein complex. Biomarker of nasopharynx carcinoma. [provided by Alliance of Genome Resources, Mar 2025]
SNRPG Gene small nuclear ribonucleoprotein polypeptide G The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3' end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
SNRPE Gene small nuclear ribonucleoprotein polypeptide E The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3' end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]
RNVU1-8 Gene RNA, variant U1 small* nuclear 8* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-4 Gene RNA, variant U1 small* nuclear 4* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-6 Gene RNA, variant U1 small* nuclear 6* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be located in nucleus. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-7 Gene RNA, variant U1 small* nuclear 7* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNVU1-1 Gene RNA, variant U1 small* nuclear 1*
SNORA20 Gene small nucleolar RNA, H/ACA box 20 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA22 Gene small nucleolar RNA, H/ACA box 22 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA23 Gene small nucleolar RNA, H/ACA box 23 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA25 Gene small nucleolar RNA, H/ACA box 25 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA26 Gene small nucleolar RNA, H/ACA box 26 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA27 Gene small nucleolar RNA, H/ACA box 27 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA2A Gene small nucleolar RNA, H/ACA box 2A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA2B Gene small nucleolar RNA, H/ACA box 2B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SERF1AP1 Gene small EDRK-rich factor 1A (telomeric) pseudogene 1
U2AF1 Gene U2 small* nuclear RNA auxiliary factor 1* This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
U2AF2 Gene U2 small* nuclear RNA auxiliary factor 2* U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
RNU6-75P Gene RNA, U6 small* nuclear 75, pseudogene*
SNORD56B Gene small nucleolar RNA, C/D box 56B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5E-4P Gene RNA, U5E small* nuclear 4, pseudogene*
SNRPCP19 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 19
SNRPCP18 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 18
SNRPCP15 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 15
SNRPCP14 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 14
SNRPCP12 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 12
SNRPCP11 Gene small nuclear ribonucleoprotein polypeptide C pseudogene 11
SNORD116-20 Gene small nucleolar RNA, C/D box 116-20 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-29 Gene small nucleolar RNA, C/D box 116-29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-11P Gene RNA, U1 small* nuclear 11, pseudogene*
RNU7-7P Gene RNA, U7 small* nuclear 7 pseudogene*
LOC100130842 Gene small integral membrane protein 7 pseudogene
RNU6-81P Gene RNA, U6 small* nuclear 81, pseudogene*
RNU7-76P Gene RNA, U7 small* nuclear 76 pseudogene*
RNU4-2 Gene RNA, U4 small* nuclear 2* Predicted to enable U6 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4 snRNP and U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Mar 2025]
SNRPFP4 Gene small nuclear ribonucleoprotein polypeptide F pseudogene 4
SNRPFP2 Gene small nuclear ribonucleoprotein polypeptide F pseudogene 2
SNRPFP1 Gene small nuclear ribonucleoprotein polypeptide F pseudogene 1
SNHG10 Gene small nucleolar RNA host gene 10 This gene is small nucleolar RNA host gene 10 and represents a non-protein coding RNA. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
SUMO1 Gene small ubiquitin-like modifier 1 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
SUMO2 Gene small ubiquitin-like modifier 2 This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
SUMO4 Gene small ubiquitin-like modifier 4 This gene is a member of the SUMO gene family. This family of genes encode small ubiquitin-related modifiers that are attached to proteins and control the target proteins' subcellular localization, stability, or activity. The protein described in this record is located in the cytoplasm and specifically modifies IKBA, leading to negative regulation of NF-kappa-B-dependent transcription of the IL12B gene. A specific polymorphism in this SUMO gene, which leads to the M55V substitution, has been associated with type I diabetes. The RefSeq contains this polymorphism. [provided by RefSeq, Jul 2008]
LOC100652840 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
RNU4-5P Gene RNA, U4 small* nuclear 5, pseudogene*
SNRPGP3 Gene small nuclear ribonucleoprotein polypeptide G pseudogene 3
LOC100129492 Gene small nuclear ribonucleoprotein Sm D1 pseudogene
SGSM2 Gene small G protein signaling modulator 2 The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
SGSM1 Gene small G protein signaling modulator 1 Enables GTPase activator activity and small GTPase binding activity. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Located in cytoplasmic vesicle membrane and cytosol. [provided by Alliance of Genome Resources, Mar 2025]
SNORA14B Gene small nucleolar RNA, H/ACA box 14B Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 7. [provided by RefSeq, Oct 2008]
SNORA14A Gene small nucleolar RNA, H/ACA box 14A Small nucleolar RNAs (snoRNAs) are 60-150 nt long non-coding RNAs, and include two groups: C/D box snoRNAs and H/ACA box snoRNAs. The C/D box snoRNAs are guides for the 2'-O-ribose methylation of rRNAs or snRNAs. The H/ACA box snoRNAs are guides for the isomerization of uridine residues into pseudouridine. This gene belongs to the group of the H/ACA box snoRNAs, and functions in 18S rRNA pseudouridylation at position U966. The gene duplication generates a 91% identical copy on chromosome 1. [provided by RefSeq, Oct 2008]
RNU4-10P Gene RNA, U4 small* nuclear 10, pseudogene*
LOC101929240 Gene U5 small* nuclear ribonucleoprotein 200 kDa helicase pseudogene*
RNU1-19P Gene RNA, U1 small* nuclear 19, pseudogene*
RNU6-14P Gene RNA, U6 small* nuclear 14, pseudogene*
RNU5F-8P Gene RNA, U5F small* nuclear 8, pseudogene*
SNORD35A Gene small nucleolar RNA, C/D box 35A Predicted to be involved in RNA processing. Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD35B Gene small nucleolar RNA, C/D box 35B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM10L2A Gene small integral membrane protein 10 like 2A This gene encodes a highly conserved small protein that contains a conserved motif (DUF4560) and may function as an integral membrane protein. This transcript was also shown to associate with enhancer chromatin and therefore may also function as an RNA to regulate enhancers. [provided by RefSeq, Jan 2017]
RNU7-45P Gene RNA, U7 small* nuclear 45 pseudogene*
RNU7-84P Gene RNA, U7 small* nuclear 84 pseudogene*
RNU6-30P Gene RNA, U6 small* nuclear 30, pseudogene*
SNORD13P1 Gene small nucleolar RNA, C/D box 13 pseudogene 1
SNORD13P3 Gene small nucleolar RNA, C/D box 13 pseudogene 3
SNORD13P2 Gene small nucleolar RNA, C/D box 13 pseudogene 2
RNU6-78P Gene RNA, U6 small* nuclear 78, pseudogene*
LOC100422645 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase 2 pseudogene*
RNU7-39P Gene RNA, U7 small* nuclear 39 pseudogene*
SNORD14E Gene small nucleolar RNA, C/D box 14E
SNORD14D Gene small nucleolar RNA, C/D box 14D Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD14A Gene small nucleolar RNA, C/D box 14A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD14C Gene small nucleolar RNA, C/D box 14C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD14B Gene small nucleolar RNA, C/D box 14B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD49A Gene small nucleolar RNA, C/D box 49A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-64P Gene RNA, U7 small* nuclear 64 pseudogene*
LOC100533850 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
RNU7-70P Gene RNA, U7 small* nuclear 70 pseudogene*
SNORA37 Gene small nucleolar RNA, H/ACA box 37 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-56P Gene RNA, U7 small* nuclear 56 pseudogene*
RNU5F-1 Gene RNA, U5F small* nuclear 1* Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4/U6 x U5 tri-snRNP complex and U5 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNORD62A Gene small nucleolar RNA, C/D box 62A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-22 Gene small nucleolar RNA, C/D box 114-22 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-23 Gene small nucleolar RNA, C/D box 114-23 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-21 Gene small nucleolar RNA, C/D box 114-21 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-26 Gene small nucleolar RNA, C/D box 114-26 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-27 Gene small nucleolar RNA, C/D box 114-27 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-24 Gene small nucleolar RNA, C/D box 114-24 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-25 Gene small nucleolar RNA, C/D box 114-25 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-28 Gene small nucleolar RNA, C/D box 114-28 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-29 Gene small nucleolar RNA, C/D box 114-29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-15P Gene RNA, U7 small* nuclear 15 pseudogene*
RNU1-1 Gene RNA, U1 small* nuclear 1* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
RNU1-4 Gene RNA, U1 small* nuclear 4* Predicted to enable pre-mRNA 5'-splice site binding activity. Predicted to be involved in mRNA 5'-splice site recognition. Predicted to be part of U1 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
SNAR-H Gene small ILF3/NF90-associated RNA H
LOC100631375 Gene M-phase phosphoprotein 10 (U3 small* nucleolar ribonucleoprotein) pseudogene*
RNU6-59P Gene RNA, U6 small* nuclear 59, pseudogene*
RNU7-31P Gene RNA, U7 small* nuclear 31 pseudogene*
LOC105379766 Gene small nuclear ribonucleoprotein-associated protein N-like
SNORA5A Gene small nucleolar RNA, H/ACA box 5A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA5C Gene small nucleolar RNA, H/ACA box 5C Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA5B Gene small nucleolar RNA, H/ACA box 5B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA58 Gene small nucleolar RNA, H/ACA box 58 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. Predicted to be part of RISC complex. [provided by Alliance of Genome Resources, Mar 2025]
SNORA52 Gene small nucleolar RNA, H/ACA box 52 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA55 Gene small nucleolar RNA, H/ACA box 55 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA54 Gene small nucleolar RNA, H/ACA box 54 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA57 Gene small nucleolar RNA, H/ACA box 57 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA56 Gene small nucleolar RNA, H/ACA box 56 Biosynthesis of stable cellular RNAs such as tRNAs, rRNAs, snRNAs, and snoRNAs is aided by covalent nucleotide modification after transcription. The modified nucleotides are involved in correct RNA folding, establishment of correct RNA-RNA and RNA-protein interactions, and in the correct function of mature RNAs. The RNA encoded by this gene is thought to mediate the pseudouridylation of residue U1664 of 28S rRNA. [provided by RefSeq, Feb 2009]
RNU5B-2P Gene RNA, U5B small* nuclear 2, pseudogene*
RNU5E-3P Gene RNA, U5E small* nuclear 3, pseudogene*
RNU7-50P Gene RNA, U7 small* nuclear 50 pseudogene*
RNU5A-6P Gene RNA, U5A small* nuclear 6, pseudogene*
SCARNA6 Gene small Cajal body-specific RNA 6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU5E-10P Gene RNA, U5E small* nuclear 10, pseudogene*
SNORD116-19 Gene small nucleolar RNA, C/D box 116-19 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-18 Gene small nucleolar RNA, C/D box 116-18 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-11 Gene small nucleolar RNA, C/D box 116-11 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-13 Gene small nucleolar RNA, C/D box 116-13 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-15 Gene small nucleolar RNA, C/D box 116-15 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-14 Gene small nucleolar RNA, C/D box 116-14 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-17 Gene small nucleolar RNA, C/D box 116-17 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD116-16 Gene small nucleolar RNA, C/D box 116-16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-29P Gene RNA, U7 small* nuclear 29 pseudogene*
SNORD59B Gene small nucleolar RNA, C/D box 59B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD59A Gene small nucleolar RNA, C/D box 59A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRPBP1 Gene small nuclear ribonucleoprotein polypeptides B and B1 pseudogene 1
LOC100128056 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase 2 pseudogene*
SNORD72 Gene small nucleolar RNA, C/D box 72 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD77 Gene small nucleolar RNA, C/D box 77 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD74 Gene small nucleolar RNA, C/D box 74 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD75 Gene small nucleolar RNA, C/D box 75 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD78 Gene small nucleolar RNA, C/D box 78 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD79 Gene small nucleolar RNA, C/D box 79 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-79P Gene RNA, U7 small* nuclear 79 pseudogene*
RNU6-28P Gene RNA, U6 small* nuclear 28, pseudogene*
SNRPFP3 Gene small nuclear ribonucleoprotein polypeptide F pseudogene 3
RNU2-5P Gene RNA, U2 small* nuclear 5, pseudogene*
SNORD56 Gene small nucleolar RNA, C/D box 56 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-8 Gene small nucleolar RNA, C/D box 113-8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-9 Gene small nucleolar RNA, C/D box 113-9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-4 Gene small nucleolar RNA, C/D box 113-4 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-5 Gene small nucleolar RNA, C/D box 113-5 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-6 Gene small nucleolar RNA, C/D box 113-6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-7 Gene small nucleolar RNA, C/D box 113-7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD113-2 Gene small nucleolar RNA, C/D box 113-2
SNORD96B Gene small nucleolar RNA, C/D box 96B
SNORD96A Gene small nucleolar RNA, C/D box 96A
RNU5F-3P Gene RNA, U5F small* nuclear 3, pseudogene*
SNORD38B Gene small nucleolar RNA, C/D box 38B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD38A Gene small nucleolar RNA, C/D box 38A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LSM10 Gene LSM10, U7 small* nuclear RNA associated* Enables U7 snRNA binding activity. Involved in positive regulation of G1/S transition of mitotic cell cycle. Located in Cajal body. Part of U7 snRNP. [provided by Alliance of Genome Resources, Mar 2025]
LSM11 Gene LSM11, U7 small* nuclear RNA associated* Enables U7 snRNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and cleavage; positive regulation of G1/S transition of mitotic cell cycle; and regulation of chromatin organization. Located in nuclear body. Part of U7 snRNP and telomerase holoenzyme complex. Implicated in Aicardi-Goutieres syndrome. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-48P Gene RNA, U7 small* nuclear 48 pseudogene*
SNORD115-34 Gene small nucleolar RNA, C/D box 115-34 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-35 Gene small nucleolar RNA, C/D box 115-35 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-32 Gene small nucleolar RNA, C/D box 115-32 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-38 Gene small nucleolar RNA, C/D box 115-38 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD115-39 Gene small nucleolar RNA, C/D box 115-39 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG20 Gene small nucleolar RNA host gene 20 Predicted to be involved in several processes, including cellular response to fatty acid; macrophage activation; and tyrosine phosphorylation of STAT protein. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]
SNHG21 Gene small nucleolar RNA host gene 21
SNHG22 Gene small nucleolar RNA host gene 22
SNHG23 Gene small nucleolar RNA host gene 23
SNHG24 Gene small nucleolar RNA host gene 24
RNU6-42P Gene RNA, U6 small* nuclear 42, pseudogene*
SNORD115@ Gene small nucleolar RNA, C/D box 115 cluster
SNORA59A Gene small nucleolar RNA, H/ACA box 59A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA59B Gene small nucleolar RNA, H/ACA box 59B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
LOC728825 Gene small ubiquitin-like modifier 2
RNU7-21P Gene RNA, U7 small* nuclear 21 pseudogene*
SNORD71 Gene small nucleolar RNA, C/D box 71 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD76 Gene small nucleolar RNA, C/D box 76 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA11C Gene small nucleolar RNA, H/ACA box 11C Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORA11B Gene small nucleolar RNA, H/ACA box 11B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNRNP35 Gene small nuclear ribonucleoprotein 35kDa (U11/U12) The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]
SMPX Gene small muscle protein, X-linked This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]
RNU7-3P Gene RNA, U7 small* nuclear 3 pseudogene*
SNORD6 Gene small nucleolar RNA, C/D box 6 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD7 Gene small nucleolar RNA, C/D box 7 This gene encodes a spliceosomal small nuclear RNA that has orthologs in S. pombe and D. melanogaster. In S. pombe, this gene is required for site-specific 2'-O-methylation of U6 snRNA at position A41. While this is not an essential gene for S. pombe growth, loss of this gene's function may result in a slight decrease in mRNA splicing efficiency. [provided by RefSeq, Oct 2008]
SNORD5 Gene small nucleolar RNA, C/D box 5 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD2 Gene small nucleolar RNA, C/D box 2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD8 Gene small nucleolar RNA, C/D box 8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD9 Gene small nucleolar RNA, C/D box 9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
ASH2L Gene ash2 (absent, small, or homeotic)-like (Drosophila) Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-2P Gene RNA, U7 small* nuclear 2 pseudogene*
RNU2-7P Gene RNA, U2 small* nuclear 7, pseudogene*
SMLR1 Gene small leucine-rich protein 1 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-8 Gene small nucleolar RNA, C/D box 114-8 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SPRR2E Gene small proline-rich protein 2E This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014]
SPRR2D Gene small proline-rich protein 2D Predicted to be involved in female gonad development. Predicted to act upstream of or within response to estradiol. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
SPRR2G Gene small proline-rich protein 2G Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SPRR2F Gene small proline-rich protein 2F Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SPRR2A Gene small proline-rich protein 2A Enables lipid binding activity. Involved in antibacterial humoral response and defense response to Gram-positive bacterium. Located in cytoplasm. Is active in extracellular region and secretory granule. [provided by Alliance of Genome Resources, Mar 2025]
SPRR2C Gene small proline-rich protein 2C (pseudogene)
SPRR2B Gene small proline-rich protein 2B Predicted to be involved in keratinocyte differentiation. Predicted to act upstream of or within response to estradiol. Predicted to be located in cornified envelope and cytosol. [provided by Alliance of Genome Resources, Mar 2025]
RNU6-33P Gene RNA, U6 small* nuclear 33, pseudogene*
LSM3 Gene LSM3 homolog, U6 small* nuclear RNA associated (S. cerevisiae)* Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
SUMO3 Gene small ubiquitin-like modifier 3 This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]
RNU7-67P Gene RNA, U7 small* nuclear 67 pseudogene*
CTDSPL2 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small* phosphatase like 2* Enables RNA polymerase II CTD heptapeptide repeat phosphatase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of BMP signaling pathway; positive regulation of protein export from nucleus; and protein dephosphorylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
SNORD103B Gene small nucleolar RNA, C/D box 103B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD103A Gene small nucleolar RNA, C/D box 103A Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-9 Gene small nucleolar RNA, C/D box 114-9 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-3 Gene small nucleolar RNA, C/D box 114-3 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-2 Gene small nucleolar RNA, C/D box 114-2 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-7 Gene small nucleolar RNA, C/D box 114-7 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-19 Gene small nucleolar RNA, C/D box 114-19 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-18 Gene small nucleolar RNA, C/D box 114-18 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-13 Gene small nucleolar RNA, C/D box 114-13 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-12 Gene small nucleolar RNA, C/D box 114-12 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-11 Gene small nucleolar RNA, C/D box 114-11 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-10 Gene small nucleolar RNA, C/D box 114-10 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-17 Gene small nucleolar RNA, C/D box 114-17 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-16 Gene small nucleolar RNA, C/D box 114-16 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNORD114-15 Gene small nucleolar RNA, C/D box 114-15 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-83P Gene RNA, U7 small* nuclear 83 pseudogene*
SNAR-A13 Gene small ILF3/NF90-associated RNA A13 Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
RNU7-16P Gene RNA, U7 small* nuclear 16 pseudogene*
SNU13 Gene small nuclear ribonucleoprotein 13 Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
SMIM26 Gene small integral membrane protein 26 Enables protein kinase binding activity and transmembrane transporter binding activity. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Mar 2025]
SVBP Gene small vasohibin binding protein Enables microtubule binding activity and peptidase activator activity. Involved in axon development; proteolysis; and regulation of metallopeptidase activity. Acts upstream of or within negative regulation of endothelial cell migration; negative regulation of protein ubiquitination; and protein secretion. Located in apical part of cell. [provided by Alliance of Genome Resources, Mar 2025]
SMIM41 Gene small integral membrane protein 41 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SCYGR4 Gene small cysteine and glycine repeat containing 4 Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]
SMIM36 Gene small integral membrane protein 36 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM33 Gene small integral membrane protein 33 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM40 Gene small integral membrane protein 40 Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM38 Gene small integral membrane protein 38 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SNHG32 Gene small nucleolar RNA host gene 32 Predicted to enable double-stranded RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]
SMIM27 Gene small integral membrane protein 27 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM29 Gene small integral membrane protein 29 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM31 Gene small integral membrane protein 31 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM35 Gene small integral membrane protein 35 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM43 Gene small integral membrane protein 43 Enables transmembrane transporter binding activity. Predicted to be involved in mesendoderm development. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
SPAAR Gene small regulatory polypeptide of amino acid response Involved in cellular response to amino acid stimulus and negative regulation of TORC1 signaling. Located in late endosome membrane and lysosomal proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]
SMIM45 Gene small integral membrane protein 45 Involved in neuron maturation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM30 Gene small integral membrane protein 30 Involved in negative regulation of type I interferon-mediated signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Mar 2025]
SNHG25 Gene small nucleolar RNA host gene 25
SNHG28 Gene small nucleolar RNA host gene 28 Enables RNA binding activity. [provided by Alliance of Genome Resources, Mar 2025]
SNHG29 Gene small nucleolar RNA host gene 29 Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG30 Gene small nucleolar RNA host gene 30
RNU6-645P Gene RNA, U6 small* nuclear 645, pseudogene*
SNORA17B Gene small nucleolar RNA, H/ACA box 17B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SMIM44 Gene small integral membrane protein 44 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SNORA63B Gene small nucleolar RNA, H/ACA box 63B Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
SNHG26 Gene small nucleolar RNA host gene 26
SPRR5 Gene small proline rich protein 5
STRIT1 Gene small transmembrane regulator of ion transport 1 Predicted to enable enzyme activator activity. Predicted to be involved in regulation of calcium ion transport and regulation of striated muscle contraction. Predicted to act upstream of or within positive regulation of ATPase-coupled calcium transmembrane transporter activity and positive regulation of calcium ion import. Predicted to be located in sarcoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Mar 2025]
SCYGR6 Gene small cysteine and glycine repeat containing 6 Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Mar 2025]
SMIM42 Gene small integral membrane protein 42 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM47 Gene small integral membrane protein 47 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SMIM32 Gene small integral membrane protein 32 Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]
SCYGR10 Gene small cysteine and glycine repeat containing 10 (gene/pseudogene) This gene is a member of a large gene family that encodes keratin associated proteins (KRTAP) that play a role in hair formation. This gene belongs to a subfamily of the KRTAP family termed small cysteine and glycine repeat containing (SCYGR) genes and it resides in a cluster of SCYGR genes on chromosome 2q36.3. Allelic polymorphisms in this gene result in both coding and non-coding transcripts; the reference genome represents the non-coding allele. [provided by RefSeq, Jan 2024]
SCYGR1 Gene small cysteine and glycine repeat containing 1
SCYGR7 Gene small cysteine and glycine repeat containing 7
SCYGR8 Gene small cysteine and glycine repeat containing 8
SCYGR3 Gene small cysteine and glycine repeat containing 3
SCYGR2 Gene small cysteine and glycine repeat containing 2
SCYGR5 Gene small cysteine and glycine repeat containing 5
LOC107983987 Gene small integral membrane protein 34B
SMIM39 Gene small integral membrane protein 39
SMIM10L3 Gene small integral membrane protein 10 like 3
SMIM46 Gene small integral membrane protein 46
ITGA2 Gene integrin, alpha 2 (CD49B, alpha 2 subunit* of VLA-2 receptor)* This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
ITGA3 Gene integrin, alpha 3 (antigen CD49C, alpha 3 subunit* of VLA-3 receptor)* The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
ITGA4 Gene integrin, alpha 4 (antigen CD49D, alpha 4 subunit* of VLA-4 receptor)* The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
ITGAX Gene integrin, alpha X (complement component 3 receptor 4 subunit) This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ITGAM Gene integrin, alpha M (complement component 3 receptor 3 subunit) This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 ('Mac-1'), or inactivated-C3b (iC3b) receptor 3 ('CR3'). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CKS1B Gene CDC28 protein kinase regulatory subunit* 1B* CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]
EIF3EP3 Gene eukaryotic translation initiation factor 3, subunit* E pseudogene 3*
EIF3EP2 Gene eukaryotic translation initiation factor 3, subunit* E pseudogene 2*
EIF3EP1 Gene eukaryotic translation initiation factor 3, subunit* E pseudogene 1*
LOC100421559 Gene adaptor-related protein complex 5, mu 1 subunit* pseudogene*
PPP1R1AP2 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 1A pseudogene 2*
COX4I1P1 Gene cytochrome c oxidase subunit* IV isoform 1 pseudogene 1*
COX4I1P2 Gene cytochrome c oxidase subunit* IV isoform 1 pseudogene 2*
SEC61A1 Gene Sec61 alpha 1 subunit* (S. cerevisiae)* The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
SEC61A2 Gene Sec61 alpha 2 subunit* (S. cerevisiae)* The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
RAB3GAP2 Gene RAB3 GTPase activating protein subunit* 2 (non-catalytic)* The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
RAB3GAP1 Gene RAB3 GTPase activating protein subunit* 1 (catalytic)* This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PSMB9 Gene proteasome (prosome, macropain) subunit, beta type, 9 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
PSMB8 Gene proteasome (prosome, macropain) subunit, beta type, 8 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
PSMB7 Gene proteasome (prosome, macropain) subunit, beta type, 7 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]
PSMB6 Gene proteasome (prosome, macropain) subunit, beta type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMB5 Gene proteasome (prosome, macropain) subunit, beta type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PSMB4 Gene proteasome (prosome, macropain) subunit, beta type, 4 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]
PSMB3 Gene proteasome (prosome, macropain) subunit, beta type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]
PSMB2 Gene proteasome (prosome, macropain) subunit, beta type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PSMB1 Gene proteasome (prosome, macropain) subunit, beta type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is tightly linked to the TBP (TATA-binding protein) gene in human and in mouse, and is transcribed in the opposite orientation in both species. [provided by RefSeq, Jul 2008]
LOC390282 Gene eukaryotic translation initiation factor 3, subunit* F pseudogene*
PPP3CA Gene protein phosphatase 3, catalytic subunit, alpha isozyme Enables several functions, including ATPase binding activity; calmodulin binding activity; and calmodulin-dependent protein phosphatase activity. Involved in several processes, including calcineurin-NFAT signaling cascade; negative regulation of angiotensin-activated signaling pathway; and peptidyl-serine dephosphorylation. Located in cytoplasm; cytoplasmic side of plasma membrane; and dendritic spine. Part of calcineurin complex. Implicated in developmental and epileptic encephalopathy 91. Biomarker of cholangiocarcinoma; focal segmental glomerulosclerosis; and schizophrenia. [provided by Alliance of Genome Resources, Mar 2025]
PPP3CB Gene protein phosphatase 3, catalytic subunit, beta isozyme Enables several functions, including calmodulin binding activity; calmodulin-dependent protein phosphatase activity; and protein phosphatase 2B binding activity. Involved in several processes, including calcineurin-NFAT signaling cascade; positive regulation of lysosome organization; and positive regulation of protein localization to nucleus. Located in cytoplasm. Part of calcineurin complex. Implicated in aortic valve stenosis. Biomarker of focal segmental glomerulosclerosis and schizophrenia. [provided by Alliance of Genome Resources, Mar 2025]
PPP3CC Gene protein phosphatase 3, catalytic subunit, gamma isozyme Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
LOC347381 Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit* pseudogene*
DRC7 Gene dynein regulatory complex subunit* 7* Predicted to be involved in sperm axoneme assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
DRC1 Gene dynein regulatory complex subunit* 1* This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
LOC100533945 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
PDSS2 Gene prenyl (decaprenyl) diphosphate synthase, subunit* 2* The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
PDSS1 Gene prenyl (decaprenyl) diphosphate synthase, subunit* 1* The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]
ATP6V1G1P4 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 4*
ATP6V1G1P7 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 7*
ATP6V1G1P1 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 1*
ATP6V1G1P3 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 3*
EIF3EP4 Gene eukaryotic translation initiation factor 3, subunit* E pseudogene 4*
PPP1R26 Gene protein phosphatase 1, regulatory subunit* 26* Predicted to enable protein phosphatase inhibitor activity. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R27 Gene protein phosphatase 1, regulatory subunit* 27* Enables phosphatase binding activity. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R21 Gene protein phosphatase 1, regulatory subunit* 21* Enables RNA binding activity. Located in early endosome. [provided by Alliance of Genome Resources, Mar 2025]
OSTCP7 Gene oligosaccharyltransferase complex subunit* pseudogene 7*
LOC100131158 Gene eukaryotic translation initiation factor 2, subunit* 3 gamma, 52kDa pseudogene*
OSTCP4 Gene oligosaccharyltransferase complex subunit* pseudogene 4*
OSTCP2 Gene oligosaccharyltransferase complex subunit* pseudogene 2*
SKA1 Gene spindle and kinetochore associated complex subunit* 1* Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore; negative regulation of mitotic spindle assembly checkpoint signaling; and positive regulation of microtubule polymerization. Located in intercellular bridge; kinetochore; and microtubule cytoskeleton. Part of SKA complex. [provided by Alliance of Genome Resources, Mar 2025]
SKA3 Gene spindle and kinetochore associated complex subunit* 3* This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
SKA2 Gene spindle and kinetochore associated complex subunit* 2* Enables microtubule binding activity. Involved in attachment of mitotic spindle microtubules to kinetochore and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of SKA complex. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R13B Gene protein phosphatase 1, regulatory subunit* 13B* This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PPP1R13L Gene protein phosphatase 1, regulatory subunit* 13 like* IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
LOC100631380 Gene protein phosphatase 6, regulatory subunit* 2 pseudogene 1*
NCAPD2P1 Gene non-SMC condensin I complex, subunit* D2 pseudogene 1*
LOC100506672 Gene cytochrome c oxidase subunit* VIIc pseudogene*
ELP6 Gene elongator acetyltransferase complex subunit* 6* Predicted to be involved in positive regulation of cell migration. Predicted to act upstream of or within several processes, including autophagosome maturation; gene expression; and homeostasis of number of retina cells. Located in cytosol and nucleus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Mar 2025]
ELP5 Gene elongator acetyltransferase complex subunit* 5* Predicted to contribute to tRNA binding activity. Predicted to be involved in positive regulation of cell migration and tRNA modification. Located in cytosol and nucleoplasm. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Mar 2025]
ELP4 Gene elongator acetyltransferase complex subunit* 4* This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
ELP3 Gene elongator acetyltransferase complex subunit* 3* Enables acetyltransferase activity and phosphorylase kinase regulator activity. Involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. Located in cytosol and nucleolus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Mar 2025]
ELP2 Gene elongator acetyltransferase complex subunit* 2* The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
LOC101180897 Gene Rab geranylgeranyltransferase, beta subunit* pseudogene*
COX6B1P7 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 7*
COX6B1P5 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 5*
LOC105376811 Gene laminin subunit* beta-2-like*
COX5A Gene cytochrome c oxidase subunit* Va* Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]
COX5B Gene cytochrome c oxidase subunit* Vb* Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]
MT-ND1 Gene NADH dehydrogenase, subunit* 1 (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Mar 2025]
MT-ND3 Gene NADH dehydrogenase, subunit* 3 (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]
MT-ND4 Gene NADH dehydrogenase, subunit* 4 (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]
MT-ND5 Gene NADH dehydrogenase, subunit* 5 (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]
MT-ND6 Gene NADH dehydrogenase, subunit* 6 (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. [provided by Alliance of Genome Resources, Mar 2025]
LOC101929104 Gene mitochondrial import receptor subunit* TOM22 homolog pseudogene*
CCT4P2 Gene chaperonin containing TCP1, subunit* 4 (delta) pseudogene 2*
ANAPC1 Gene anaphase promoting complex subunit* 1* This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
ANAPC2 Gene anaphase promoting complex subunit* 2* A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]
ANAPC5 Gene anaphase promoting complex subunit* 5* This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]
ANAPC4 Gene anaphase promoting complex subunit* 4* A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ANAPC7 Gene anaphase promoting complex subunit* 7* This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
PSMD14 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
PSMD11 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMD10 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 This gene encodes a subunit of the PA700/19S complex, which is the regulatory component of the 26S proteasome. The 26S proteosome complex is required for ubiquitin-dependent protein degradation. This protein is a non-ATPase subunit that may be involved in protein-protein interactions. Aberrant expression of this gene may paly a role in tumorigenesis. Two transcripts encoding different isoforms have been described. Pseudogenes have been identified on chromosomes 3 and 20.[provided by RefSeq, Mar 2011]
PSMD13 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PSMD12 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
LOC101060089 Gene cleavage and polyadenylation specificity factor subunit* 5-like*
COPS8P1 Gene COP9 signalosome subunit* 8 pseudogene 1*
EIF3FP1 Gene eukaryotic translation initiation factor 3, subunit* F pseudogene 1*
EIF3FP2 Gene eukaryotic translation initiation factor 3, subunit* F pseudogene 2*
EIF3FP3 Gene eukaryotic translation initiation factor 3, subunit* F pseudogene 3*
KCNMB3P1 Gene potassium channel subfamily M regulatory beta subunit* 3 pseudogene 1*
PPP6C Gene protein phosphatase 6, catalytic subunit This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]
LOC100421419 Gene protein phosphatase 4, regulatory subunit* 2 pseudogene*
PSMB3P Gene proteasome (prosome, macropain) subunit, beta type, 3 pseudogene
COX7A2L Gene cytochrome c oxidase subunit* VIIa polypeptide 2 like* Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
BLOC1S6 Gene biogenesis of lysosomal organelles complex-1, subunit* 6, pallidin* The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
BLOC1S1 Gene biogenesis of lysosomal organelles complex-1, subunit* 1* BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
LOC105377135 Gene transcription initiation factor TFIID subunit* 4-like*
ANAPC1P1 Gene anaphase promoting complex subunit* 1 pseudogene 1*
AP1S1 Gene adaptor-related protein complex 1, sigma 1 subunit The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
SCN1B Gene sodium channel, voltage gated, type I beta subunit Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
SCN1A Gene sodium channel, voltage gated, type I alpha subunit Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]
LOC644661 Gene importin subunit* alpha-1 pseudogene*
PDPR Gene pyruvate dehydrogenase phosphatase regulatory subunit Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
LOC101929895 Gene eukaryotic translation initiation factor 3 subunit* A-like*
PDP1 Gene pyruvate dehyrogenase phosphatase catalytic subunit* 1* Pyruvate dehydrogenase (E1) is one of the three components (E1, E2, and E3) of the large pyruvate dehydrogenase complex. Pyruvate dehydrogenase kinases catalyze phosphorylation of serine residues of E1 to inactivate the E1 component and inhibit the complex. Pyruvate dehydrogenase phosphatases catalyze the dephosphorylation and activation of the E1 component to reverse the effects of pyruvate dehydrogenase kinases. Pyruvate dehydrogenase phosphatase is a heterodimer consisting of catalytic and regulatory subunits. Two catalytic subunits have been reported; one is predominantly expressed in skeletal muscle and another one is is much more abundant in the liver. The catalytic subunit, encoded by this gene, is the former, and belongs to the protein phosphatase 2C (PP2C) superfamily. Along with the pyruvate dehydrogenase complex and pyruvate dehydrogenase kinases, this enzyme is located in the mitochondrial matrix. Mutation in this gene causes pyruvate dehydrogenase phosphatase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
PDP2 Gene pyruvate dehyrogenase phosphatase catalytic subunit* 2* This gene is a mitochondrial protein that functions as a phosphatase and is involved in the enzymatic resetting of the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2016]
ATP5L2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* G2* Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
KATNBL1 Gene katanin p80 subunit* B-like 1* Predicted to enable microtubule binding activity. Involved in cytoplasmic microtubule organization and positive regulation of cytoskeleton organization. Located in several cellular components, including cleavage furrow; mitotic spindle pole; and nuclear lumen. Part of katanin complex. [provided by Alliance of Genome Resources, Mar 2025]
NACA Gene nascent polypeptide-associated complex alpha subunit This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
PSME2P6 Gene proteasome activator subunit* 2 pseudogene 6*
PSME2P4 Gene proteasome activator subunit* 2 pseudogene 4*
PSME2P3 Gene proteasome activator subunit* 2 pseudogene 3*
SPTLC1P1 Gene serine palmitoyltransferase, long chain base subunit* 1 pseudogene 1*
SPTLC1P2 Gene serine palmitoyltransferase, long chain base subunit* 1 pseudogene 2*
SPTLC1P5 Gene serine palmitoyltransferase, long chain base subunit* 1 pseudogene 5*
SPTLC1P4 Gene serine palmitoyltransferase, long chain base subunit* 1 pseudogene 4*
INTS12 Gene integrator complex subunit* 12* INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS10 Gene integrator complex subunit* 10* INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
SCNN1D Gene sodium channel, non voltage gated 1 delta subunit Enables sodium channel activity. Involved in cellular response to acidic pH; intracellular sodium ion homeostasis; and sodium ion import across plasma membrane. Located in actin cytoskeleton and membrane. Part of sodium channel complex. Is active in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
SCNN1B Gene sodium channel, non voltage gated 1 beta subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]
SCNN1A Gene sodium channel, non voltage gated 1 alpha subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
LOC100422479 Gene integrin, alpha X (complement component 3 receptor 4 subunit) pseudogene
PPP1R10P1 Gene protein phosphatase 1, regulatory subunit* 10 pseudogene 1*
NAA50 Gene N(alpha)-acetyltransferase 50, NatE catalytic subunit Enables histone H4 acetyltransferase activity and peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleolus. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100127892 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene*
SF3A3P1 Gene splicing factor 3a, subunit* 3 pseudogene 1*
SF3A3P2 Gene splicing factor 3a, subunit* 3 pseudogene 2*
AP5B1 Gene adaptor-related protein complex 5, beta 1 subunit Involved in endosomal transport. Located in lysosomal membrane. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Mar 2025]
ITGB2 Gene integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
RNASEH2A Gene ribonuclease H2, subunit* A* The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
RNASEH2C Gene ribonuclease H2, subunit* C* This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
RNASEH2B Gene ribonuclease H2, subunit* B* RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
SCN9A Gene sodium channel, voltage gated, type IX alpha subunit This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
PPP6CP Gene protein phosphatase 6, catalytic subunit* pseudogene*
PAFAH1B1P1 Gene platelet-activating factor acetylhydrolase 1b, regulatory subunit* 1 pseudogene 1*
AP5Z1 Gene adaptor-related protein complex 5, zeta 1 subunit This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
COX6CP4 Gene cytochrome c oxidase subunit* VIc pseudogene 4*
LOC100533944 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC390705 Gene protein phosphatase 2, regulatory subunit* B'', beta pseudogene*
LOC100533948 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
COPS8 Gene COP9 signalosome subunit* 8* The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
COPS2 Gene COP9 signalosome subunit* 2* Predicted to enable transcription corepressor activity. Involved in protein deneddylation and protein phosphorylation. Located in cytoplasm. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Mar 2025]
COPS3 Gene COP9 signalosome subunit* 3* The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
COPS6 Gene COP9 signalosome subunit* 6* The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
COPS4 Gene COP9 signalosome subunit* 4* This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
COPS5 Gene COP9 signalosome subunit* 5* The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
LOC100421096 Gene non-SMC condensin I complex, subunit* G pseudogene*
PSMA2P3 Gene proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 3
NCAPH2 Gene non-SMC condensin II complex, subunit* H2* This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]
TSEN54 Gene TSEN54 tRNA splicing endonuclease subunit This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
PSMA2P1 Gene proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 1
LOC642890 Gene N(alpha)-acetyltransferase 50, NatE catalytic subunit* pseudogene*
BRK1P2 Gene BRICK1, SCAR/WAVE actin-nucleating complex subunit* pseudogene 2*
MED13P1 Gene mediator complex subunit* 13 pseudogene 1*
INTS4P1 Gene integrator complex subunit* 4 pseudogene 1*
INTS4P2 Gene integrator complex subunit* 4 pseudogene 2*
SKA2P1 Gene spindle and kinetochore associated complex subunit* 2 pseudogene 1*
AP2B1 Gene adaptor-related protein complex 2, beta 1 subunit The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PPP1R14D Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14D* Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
PPP1R14B Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B* Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in innate immune response. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R14C Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14C* The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]
PPP1R14A Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14A* The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]
ATP6V1G1P6 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 6*
ATP6V1G1P2 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 2*
LOC100133326 Gene serine/threonine-protein phosphatase 4 regulatory subunit* 2-like*
MED15P7 Gene mediator complex subunit* 15 pseudogene 7*
MED15P6 Gene mediator complex subunit* 15 pseudogene 6*
MED15P5 Gene mediator complex subunit* 15 pseudogene 5*
MED15P4 Gene mediator complex subunit* 15 pseudogene 4*
MED15P1 Gene mediator complex subunit* 15 pseudogene 1*
MED15P9 Gene mediator complex subunit* 15 pseudogene 9*
LOC105369236 Gene structure-specific endonuclease subunit* SLX1-like*
INO80 Gene INO80 complex subunit This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
KANSL1L Gene KAT8 regulatory NSL complex subunit* 1-like* Predicted to enable histone acetyltransferase binding activity. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be part of NSL complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100129052 Gene N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) pseudogene
COX7B2 Gene cytochrome c oxidase subunit* VIIb2* Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to act upstream of or within spermatogenesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
COX6C Gene cytochrome c oxidase subunit* VIc* Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]
LOC100289091 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* G2 pseudogene*
PSMA2P2 Gene proteasome (prosome, macropain) subunit, alpha type, 2 pseudogene 2
COX6A1 Gene cytochrome c oxidase subunit* VIa polypeptide 1* Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
COX6A2 Gene cytochrome c oxidase subunit* VIa polypeptide 2* Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
LOC100192388 Gene anaphase promoting complex subunit* 13 pseudogene*
LOC100192389 Gene anaphase promoting complex subunit* 13 pseudogene*
ATP6V1E1 Gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit* E1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
ATP6V1E2 Gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit* E2* Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in regulation of macroautophagy. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in cytosol. Predicted to be part of proton-transporting two-sector ATPase complex, catalytic domain. [provided by Alliance of Genome Resources, Mar 2025]
CNOT4 Gene CCR4-NOT transcription complex, subunit* 4* The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PPP1R12BP1 Gene protein phosphatase 1, regulatory subunit* 12B pseudogene, Y-linked 1*
PPP1R12BP2 Gene protein phosphatase 1, regulatory subunit* 12B Y-linked pseudogene 2*
CKS2 Gene CDC28 protein kinase regulatory subunit* 2* CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]
LOC100287189 Gene Sec61 beta subunit* pseudogene*
LOC100418484 Gene KAT8 regulatory NSL complex subunit* 1 pseudogene*
RPP25L Gene ribonuclease P/MRP 25kDa subunit-like This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
DPM2 Gene dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]
DPM1 Gene dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
ARPC5L Gene actin related protein 2/3 complex, subunit* 5-like* Predicted to enable actin filament binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation and cell migration. Located in extracellular exosome and focal adhesion. [provided by Alliance of Genome Resources, Mar 2025]
LOC100132108 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene
LOC101060521 Gene DNA-directed RNA polymerase III subunit* RPC5*
TCIRG1 Gene T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit* A3* This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]
SCN11A Gene sodium channel, voltage gated, type XI alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
LOC101929862 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
IGFALS Gene insulin-like growth factor binding protein, acid labile subunit The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
LOC100288771 Gene prefoldin subunit* 1 pseudogene*
CCT8P1 Gene chaperonin containing TCP1, subunit* 8 (theta) pseudogene 1*
PDSS1P1 Gene prenyl (decaprenyl) diphosphate synthase, subunit* 1 pseudogene 1*
PDSS1P2 Gene prenyl (decaprenyl) diphosphate synthase, subunit* 1 pseudogene 2*
LOC646112 Gene origin recognition complex, subunit* 3-like (yeast) pseudogene*
TPGS2 Gene tubulin polyglutamylase complex subunit* 2* This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
TPGS1 Gene tubulin polyglutamylase complex subunit* 1* Predicted to enable microtubule binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including adult behavior; chemical synaptic transmission; and protein polyglutamylation. Located in centrosome. [provided by Alliance of Genome Resources, Mar 2025]
LOC653653 Gene adaptor-related protein complex 1, sigma 2 subunit* pseudogene*
CNOT7P2 Gene CCR4-NOT transcription complex, subunit* 7 pseudogene 2*
CNOT7P1 Gene CCR4-NOT transcription complex, subunit* 7 pseudogene 1*
LOC649166 Gene eukaryotic translation initiation factor 3, subunit* J pseudogene*
ATP5J2LP Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2-like pseudogene*
EME2 Gene essential meiotic structure-specific endonuclease subunit* 2* EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
DGCR8 Gene DGCR8 microprocessor complex subunit This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
LOC100421808 Gene protein phosphatase 2, regulatory subunit* B, gamma pseudogene*
RPP40 Gene ribonuclease P/MRP 40kDa subunit Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100421802 Gene protein phosphatase 2, regulatory subunit* B, alpha pseudogene*
NAA20 Gene N(alpha)-acetyltransferase 20, NatB catalytic subunit NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]
NAA25 Gene N(alpha)-acetyltransferase 25, NatB auxiliary subunit This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
CACTIN Gene cactin, spliceosome C complex subunit Enables RNA binding activity. Involved in several processes, including cellular response to cytokine stimulus; negative regulation of cytokine production; and negative regulation of signal transduction. Located in cytosol and nuclear speck. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Mar 2025]
LOC647208 Gene protein phosphatase 2, regulatory subunit* B'', beta pseudogene*
LOC100288416 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene*
LOC643454 Gene adaptor-related protein complex 3, sigma 1 subunit* pseudogene*
AP3M1 Gene adaptor-related protein complex 3, mu 1 subunit The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]
AP3M2 Gene adaptor-related protein complex 3, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
PSMD10P3 Gene proteasome 26S subunit, non-ATPase, 10 pseudogene 3
PSMD10P2 Gene proteasome 26S subunit, non-ATPase, 10 pseudogene 2
PSMD10P1 Gene proteasome 26S subunit, non-ATPase, 10 pseudogene 1
PPP2R2DP1 Gene protein phosphatase 2, regulatory subunit* B, delta pseudogene 1*
HADHAP2 Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit* pseudogene 2*
LOC100289381 Gene adaptor-related protein complex 3, sigma 1 subunit* pseudogene*
BRCC3P1 Gene BRCA1/BRCA2-containing complex, subunit* 3 pseudogene 1*
CACNA2D1 Gene calcium channel, voltage-dependent, alpha 2/delta subunit* 1* The preproprotein encoded by this gene is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in this gene can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion. [provided by RefSeq, Nov 2014]
LOC102724200 Gene trafficking protein particle complex subunit* 10-like*
GABPAP Gene GA binding protein transcription factor, alpha subunit* pseudogene*
ICE2P2 Gene interactor of little elongation complex ELL subunit* 2 pseudogene 2*
ICE2P1 Gene interactor of little elongation complex ELL subunit* 2 pseudogene 1*
LOC149935 Gene CDK5 regulatory subunit* associated protein 3 pseudogene*
PSMD8 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
PSMD5 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
PSMD4 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]
PSMD7 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
PSMD6 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
PSMD1 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]
PSMD3 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]
PSMD2 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
COPS7B Gene COP9 signalosome subunit* 7B* Involved in protein deneddylation. Located in nucleoplasm. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Mar 2025]
COPS7A Gene COP9 signalosome subunit* 7A* This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
RABGGTB Gene Rab geranylgeranyltransferase, beta subunit This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
PPP1R26P5 Gene protein phosphatase 1, regulatory subunit* 26 pseudogene 5*
RABGGTA Gene Rab geranylgeranyltransferase, alpha subunit Predicted to enable small GTPase binding activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and protein geranylgeranylation. Predicted to be located in cytosol and plasma membrane. Predicted to be part of Rab-protein geranylgeranyltransferase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R26P2 Gene protein phosphatase 1, regulatory subunit* 26 pseudogene 2*
PTAR1 Gene protein prenyltransferase alpha subunit* repeat containing 1* Predicted to enable protein prenyltransferase activity. Predicted to contribute to Rab geranylgeranyltransferase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
POLD4 Gene polymerase (DNA-directed), delta 4, accessory subunit This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
LOC260421 Gene actin related protein 2/3 complex subunit* 1A pseudogene*
LOC260422 Gene actin related protein 2/3 complex subunit* 1A pseudogene*
AP4B1 Gene adaptor-related protein complex 4, beta 1 subunit This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
POLE3 Gene polymerase (DNA directed), epsilon 3, accessory subunit POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
STT3B Gene STT3B, subunit* of the oligosaccharyltransferase complex (catalytic)* The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
STT3A Gene STT3A, subunit* of the oligosaccharyltransferase complex (catalytic)* The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
HIF3A Gene hypoxia inducible factor 3, alpha subunit The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
SWAP70 Gene SWAP switching B-cell complex 70kDa subunit Enables cadherin binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to act upstream of or within isotype switching. Located in actin cytoskeleton; cytoplasm; and plasma membrane. Is active in postsynapse. [provided by Alliance of Genome Resources, Mar 2025]
HIF1AP1 Gene hypoxia inducible factor 1, alpha subunit* (basic helix-loop-helix transcription factor) pseudogene 1*
MUS81 Gene MUS81 structure-specific endonuclease subunit This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]
ATP6V1E1P2 Gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit* E1 pseudogene 2*
FARSBP1 Gene phenylalanyl-tRNA synthetase, beta subunit* pseudogene 1*
ATP6V1E1P1 Gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit* E1 pseudogene 1*
PGGT1BP1 Gene protein geranylgeranyltransferase type I, beta subunit* pseudogene 1*
AP2A1 Gene adaptor-related protein complex 2, alpha 1 subunit This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
AP2A2 Gene adaptor-related protein complex 2, alpha 2 subunit The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
LOC102724594 Gene splicing factor U2AF 35 kDa subunit
LOC643711 Gene platelet-activating factor acetylhydrolase 1b, catalytic subunit* 2 (30kDa) pseudogene*
ATP5JP1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F6 pseudogene 1*
ATP6V0A4 Gene ATPase, H+ transporting, lysosomal V0 subunit* a4* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
ATP6V0A1 Gene ATPase, H+ transporting, lysosomal V0 subunit* a1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATP6V0A2 Gene ATPase, H+ transporting, lysosomal V0 subunit* a2* The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
ATP5A1 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1, cardiac muscle* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
LOC105369446 Gene mitochondrial import receptor subunit* TOM20 homolog pseudogene*
NACA2 Gene nascent polypeptide-associated complex alpha subunit* 2* Predicted to enable unfolded protein binding activity. Predicted to be involved in protein targeting to membrane. Predicted to be located in nucleus. Predicted to be part of nascent polypeptide-associated complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
EIF2S2P1 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 1*
EIF2S2P3 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 3*
EIF2S2P2 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 2*
EIF2S2P5 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 5*
EIF2S2P4 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 4*
EIF2S2P7 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 7*
EIF2S2P6 Gene eukaryotic translation initiation factor 2, subunit* 2 beta pseudogene 6*
LOC100130035 Gene biogenesis of lysosome-related organelles complex 1 subunit* 6-like*
LOC644310 Gene ubiquinol-cytochrome c reductase, complex III subunit* X pseudogene*
LOC100131348 Gene adaptor-related protein complex 2, beta 1 subunit* pseudogene*
NCAPG2 Gene non-SMC condensin II complex, subunit* G2* This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
LOC100422044 Gene actin related protein 2/3 complex, subunit* 1A, 41kDa pseudogene*
COX5BP8 Gene cytochrome c oxidase subunit* Vb pseudogene 8*
COX5BP4 Gene cytochrome c oxidase subunit* Vb pseudogene 4*
COX5BP5 Gene cytochrome c oxidase subunit* Vb pseudogene 5*
COX5BP6 Gene cytochrome c oxidase subunit* Vb pseudogene 6*
COX5BP7 Gene cytochrome c oxidase subunit* Vb pseudogene 7*
COX5BP1 Gene cytochrome c oxidase subunit* Vb pseudogene 1*
COX5BP2 Gene cytochrome c oxidase subunit* Vb pseudogene 2*
COX5BP3 Gene cytochrome c oxidase subunit* Vb pseudogene 3*
REV3L Gene REV3-like, polymerase (DNA directed), zeta, catalytic subunit The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]
LOC101930420 Gene DNA primase large subunit-like
ATP5J2P6 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene 6*
ATP5J2P4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene 4*
ATP5J2P5 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene 5*
ATP5J2P2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene 2*
ATP5J2P3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2 pseudogene 3*
PPP1R8P1 Gene protein phosphatase 1, regulatory subunit* 8 pseudogene 1*
LOC391247 Gene GINS complex subunit* 2 (Psf2 homolog) pseudogene*
ATP5S Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* s (factor B)* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP5J Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F6* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]
ATP5I Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* E* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
ATP5H Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* d* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]
ATP5O Gene ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
ATP5E Gene ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]
ATP5D Gene ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
CLPX Gene caseinolytic mitochondrial matrix peptidase chaperone subunit The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
CLPP Gene caseinolytic mitochondrial matrix peptidase proteolytic subunit The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
CLP1 Gene cleavage and polyadenylation factor I subunit* 1* This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
LOC100507586 Gene cytochrome c oxidase subunit* VIIb pseudogene*
LOC105379604 Gene set1/Ash2 histone methyltransferase complex subunit* ASH2 pseudogene*
NGFG Gene Nerve growth factor, gamma subunit
PSMD4P1 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 pseudogene 1
PPP2R1B Gene protein phosphatase 2, regulatory subunit* A, beta* This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP1R26P4 Gene protein phosphatase 1, regulatory subunit* 26 pseudogene 4*
SF3B4P1 Gene splicing factor 3b, subunit* 4 pseudogene 1*
PSMA3 Gene proteasome (prosome, macropain) subunit, alpha type, 3 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
LOC100132849 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit* pseudogene*
HAUS8P1 Gene HAUS augmin-like complex, subunit* 8 pseudogene 1*
PCF11 Gene PCF11 cleavage and polyadenylation factor subunit The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]
CCT5P1 Gene chaperonin containing TCP1, subunit* 5 (epsilon) pseudogene 1*
LOC100421148 Gene non-SMC condensin I complex, subunit* G pseudogene*
CKS1BP4 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 4*
PPP2R4 Gene protein phosphatase 2A activator, regulatory subunit* 4* Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LOC285074 Gene anaphase promoting complex subunit* 1 pseudogene*
ARPC4 Gene actin related protein 2/3 complex, subunit* 4, 20kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. This complex controls actin polymerization in cells and has been conserved throughout eukaryotic evolution. This gene encodes the p20 subunit, which is necessary for actin nucleation and high-affinity binding to F-actin. Alternative splicing results in multiple transcript variants. Naturally occurring read-through transcription exists between this gene and the downstream tubulin tyrosine ligase-like family, member 3 (TTLL3), which results in the production of a fusion protein. [provided by RefSeq, Nov 2010]
COPS5P1 Gene COP9 signalosome subunit* 5 pseudogene 1*
ATP6V0CP3 Gene ATPase, H+ transporting, lysosomal 16kDa, V0 subunit* c pseudogene 3*
PSMB11 Gene proteasome (prosome, macropain) subunit, beta type, 11 Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]
PSMB10 Gene proteasome (prosome, macropain) subunit, beta type, 10 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
HADHAP1 Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit* pseudogene 1*
EZH2P1 Gene enhancer of zeste 2 polycomb repressive complex 2 subunit* pseudogene 1*
EIF3KP1 Gene eukaryotic translation initiation factor 3, subunit* K pseudogene 1*
ARPC3P4 Gene actin related protein 2/3 complex, subunit* 3 pseudogene 4*
SCN3A Gene sodium channel, voltage gated, type III alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SCN3B Gene sodium channel, voltage gated, type III beta subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
GABPB2 Gene GA binding protein transcription factor, beta subunit* 2* Enables transcription cis-regulatory region binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
GABPB1 Gene GA binding protein transcription factor, beta subunit* 1* This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
XKRYP6 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 6
XKRYP4 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 4
XKRYP5 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 5
XKRYP2 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 2
XKRYP3 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 3
XKRYP1 Gene XK, Kell blood group complex subunit-related, Y-linked pseudogene 1
PIK3C2B Gene phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit* type 2 beta* The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PIK3C2A Gene phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit* type 2 alpha* The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
PIK3C2G Gene phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit* type 2 gamma* The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
LOC102723574 Gene HAUS augmin-like complex subunit* 6 pseudogene*
LOC100132773 Gene serine/threonine-protein phosphatase 4 regulatory subunit* 2-like*
AP1S2 Gene adaptor-related protein complex 1, sigma 2 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
AP1S3 Gene adaptor-related protein complex 1, sigma 3 subunit This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
ATP5J2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* F2* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
PAFAH1B1 Gene platelet-activating factor acetylhydrolase 1b, regulatory subunit* 1 (45kDa)* This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
PAFAH1B3 Gene platelet-activating factor acetylhydrolase 1b, catalytic subunit* 3 (29kDa)* This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PAFAH1B2 Gene platelet-activating factor acetylhydrolase 1b, catalytic subunit* 2 (30kDa)* Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
LOC100420889 Gene anaphase promoting complex subunit* 1 pseudogene*
NAE1 Gene NEDD8 activating enzyme E1 subunit* 1* The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CBFA2T3 Gene core-binding factor, runt domain, alpha subunit* 2; translocated to, 3* This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
CBFA2T2 Gene core-binding factor, runt domain, alpha subunit* 2; translocated to, 2* In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
AP4E1 Gene adaptor-related protein complex 4, epsilon 1 subunit This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
TSEN34 Gene TSEN34 tRNA splicing endonuclease subunit This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
MED30 Gene mediator complex subunit* 30* The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]
MED31 Gene mediator complex subunit* 31* Predicted to enable transcription coregulator activity and ubiquitin protein ligase activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within limb development and negative regulation of fibroblast proliferation. Part of core mediator complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422418 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 pseudogene
LOC100422413 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene
LOC100422414 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene
RPP14 Gene ribonuclease P/MRP 14kDa subunit This gene encodes a subunit of ribonuclease P and has 3' to 5' exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]
MED23 Gene mediator complex subunit* 23* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
ATP6V0B Gene ATPase, H+ transporting, lysosomal 21kDa, V0 subunit* b* This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ATP6V0C Gene ATPase, H+ transporting, lysosomal 16kDa, V0 subunit* c* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
UQCR10 Gene ubiquinol-cytochrome c reductase, complex III subunit* X* UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]
UQCR11 Gene ubiquinol-cytochrome c reductase, complex III subunit* XI* This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]
MED14P1 Gene mediator complex subunit* 14 pseudogene 1*
SUCLA2P1 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene 1*
SUCLA2P2 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene 2*
SUCLA2P3 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene 3*
NCAPH Gene non-SMC condensin I complex, subunit* H* This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
NCAPG Gene non-SMC condensin I complex, subunit* G* This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
EIF3C Gene eukaryotic translation initiation factor 3, subunit* C* Enables ribosome binding activity. Contributes to translation initiation factor activity. Involved in positive regulation of translation and translational initiation. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
EIF3D Gene eukaryotic translation initiation factor 3, subunit* D* Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]
EIF3G Gene eukaryotic translation initiation factor 3, subunit* G* This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]
LOC101929748 Gene transcription initiation factor TFIID subunit* 4-like*
CACNA2D2 Gene calcium channel, voltage-dependent, alpha 2/delta subunit* 2* Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
CACNA2D3 Gene calcium channel, voltage-dependent, alpha 2/delta subunit* 3* This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
CACNA2D4 Gene calcium channel, voltage-dependent, alpha 2/delta subunit* 4* This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PPP2CBP1 Gene protein phosphatase 2, catalytic subunit, beta isozyme pseudogene 1
PIK3R6 Gene phosphoinositide-3-kinase, regulatory subunit* 6* Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PIK3R5 Gene phosphoinositide-3-kinase, regulatory subunit* 5* Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
PIK3R4 Gene phosphoinositide-3-kinase, regulatory subunit* 4* Predicted to enable protein serine/threonine kinase activity. Involved in several processes, including early endosome to late endosome transport; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and phosphatidylinositol-3-phosphate biosynthetic process. Located in late endosome and microtubule cytoskeleton. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]
PIK3R3 Gene phosphoinositide-3-kinase, regulatory subunit* 3 (gamma)* Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]
PIK3R2 Gene phosphoinositide-3-kinase, regulatory subunit* 2 (beta)* Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
PIK3R1 Gene phosphoinositide-3-kinase, regulatory subunit* 1 (alpha)* Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
SLC51A Gene solute carrier family 51, alpha subunit Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Mar 2025]
SLC51B Gene solute carrier family 51, beta subunit Predicted to enable bile acid transmembrane transporter activity and protein heterodimerization activity. Involved in bile acid secretion. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
SPTLC2 Gene serine palmitoyltransferase, long chain base subunit* 2* This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
SPTLC3 Gene serine palmitoyltransferase, long chain base subunit* 3* This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]
SPTLC1 Gene serine palmitoyltransferase, long chain base subunit* 1* This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
PPP1R14BP5 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B pseudogene 5*
CHAF1A Gene chromatin assembly factor 1, subunit* A (p150)* Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]
CHAF1B Gene chromatin assembly factor 1, subunit* B (p60)* Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]
UQCRQ Gene ubiquinol-cytochrome c reductase, complex III subunit* VII, 9.5kDa* This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]
ATP6V0D2 Gene ATPase, H+ transporting, lysosomal 38kDa, V0 subunit* d2* Predicted to enable proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification and vacuolar transport. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]
ATP6V0D1 Gene ATPase, H+ transporting, lysosomal 38kDa, V0 subunit* d1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
TSEN2P1 Gene TSEN2 tRNA splicing endonuclease subunit* pseudogene 1*
LOC100422375 Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* alpha pseudogene*
PSMA2 Gene proteasome (prosome, macropain) subunit, alpha type, 2 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]
PSMA1 Gene proteasome (prosome, macropain) subunit, alpha type, 1 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
PSMA7 Gene proteasome (prosome, macropain) subunit, alpha type, 7 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]
PSMA4 Gene proteasome (prosome, macropain) subunit, alpha type, 4 This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]
PSMA5 Gene proteasome (prosome, macropain) subunit, alpha type, 5 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PSMA8 Gene proteasome (prosome, macropain) subunit, alpha type, 8 Predicted to be involved in meiotic cell cycle and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
LOC100288031 Gene BRICK1, SCAR/WAVE actin-nucleating complex subunit* pseudogene*
EIF3CL Gene eukaryotic translation initiation factor 3, subunit* C-like* The protein encoded by this gene is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex. The encoded protein is nearly identical to another protein, eIF3c, from a related gene. The eIF3 complex binds the 40S ribosome and mRNAs to enable translation initiation. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
EIF3KP2 Gene eukaryotic translation initiation factor 3, subunit* K pseudogene 2*
AP4M1 Gene adaptor-related protein complex 4, mu 1 subunit This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
SDHA Gene succinate dehydrogenase complex, subunit* A, flavoprotein (Fp)* This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
SDHC Gene succinate dehydrogenase complex, subunit* C, integral membrane protein, 15kDa* This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
SDHB Gene succinate dehydrogenase complex, subunit* B, iron sulfur (Ip)* This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]
SDHD Gene succinate dehydrogenase complex, subunit* D, integral membrane protein* This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
CNOT6LP1 Gene CCR4-NOT transcription complex, subunit* 6-like pseudogene 1*
EIF3H Gene eukaryotic translation initiation factor 3, subunit* H* Enables metal-dependent deubiquitinase activity. Contributes to translation initiation factor activity. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process and translational initiation. Located in extracellular exosome and membrane. Part of eukaryotic translation initiation factor 3 complex. Implicated in breast cancer; prostate cancer; and prostate carcinoma. Biomarker of prostate cancer. [provided by Alliance of Genome Resources, Mar 2025]
EIF3I Gene eukaryotic translation initiation factor 3, subunit* I* Contributes to translation initiation factor activity. Involved in translational initiation. Located in extracellular exosome. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
EIF3J Gene eukaryotic translation initiation factor 3, subunit* J* This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
EIF3K Gene eukaryotic translation initiation factor 3, subunit* K* The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]
EIF3L Gene eukaryotic translation initiation factor 3, subunit* L* Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in translational initiation and viral translational termination-reinitiation. Located in membrane. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
EIF3M Gene eukaryotic translation initiation factor 3, subunit* M* This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]
SLX1A Gene SLX1 structure-specific endonuclease subunit* homolog A (S. cerevisiae)* This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]
EIF3A Gene eukaryotic translation initiation factor 3, subunit* A* Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in IRES-dependent viral translational initiation; formation of cytoplasmic translation initiation complex; and viral translational termination-reinitiation. Located in cytosol; nucleolus; and nucleoplasm. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
EIF3B Gene eukaryotic translation initiation factor 3, subunit* B* Enables RNA binding activity. Contributes to translation initiation factor activity. Involved in several processes, including IRES-dependent viral translational initiation; translational initiation; and viral translational termination-reinitiation. Located in cytoplasmic stress granule. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
SLX1B Gene SLX1 structure-specific endonuclease subunit* homolog B (S. cerevisiae)* This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]
EIF3E Gene eukaryotic translation initiation factor 3, subunit* E* Enables RNA binding activity and cadherin binding activity. Contributes to translation initiation factor activity. Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay; positive regulation of translation; and translational initiation. Located in PML body and cytosol. Part of eukaryotic translation initiation factor 3 complex. [provided by Alliance of Genome Resources, Mar 2025]
EIF3F Gene eukaryotic translation initiation factor 3, subunit* F* Enables identical protein binding activity and metal-dependent deubiquitinase activity. Contributes to translation initiation factor activity. Involved in IRES-dependent viral translational initiation and translational initiation. Located in membrane. Part of eukaryotic translation initiation factor 3 complex. Implicated in autosomal recessive intellectual developmental disorder 67. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R14BP4 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B pseudogene 4*
PPP1R14BP2 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B pseudogene 2*
PPP1R14BP3 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B pseudogene 3*
PPP1R14BP1 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 14B pseudogene 1*
SAE1 Gene SUMO1 activating enzyme subunit* 1* Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
ATP6V1C2 Gene ATPase, H+ transporting, lysosomal 42kDa, V1 subunit* C2* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
ATP6V1C1 Gene ATPase, H+ transporting, lysosomal 42kDa, V1 subunit* C1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
PPP1R3G Gene protein phosphatase 1, regulatory subunit* 3G* Predicted to enable glycogen binding activity and protein phosphatase 1 binding activity. Predicted to be involved in regulation of glycogen biosynthetic process. Predicted to act upstream of or within glucose homeostasis; positive regulation of glycogen (starch) synthase activity; and positive regulation of glycogen biosynthetic process. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R3F Gene protein phosphatase 1, regulatory subunit* 3F* This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PPP1R3E Gene protein phosphatase 1, regulatory subunit* 3E* Predicted to enable [phosphorylase] phosphatase activity; glycogen binding activity; and protein phosphatase 1 binding activity. Predicted to be involved in positive regulation of glycogen biosynthetic process. Predicted to be located in glycogen granule. Predicted to be part of protein phosphatase type 1 complex. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R3D Gene protein phosphatase 1, regulatory subunit* 3D* Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]
PPP1R3C Gene protein phosphatase 1, regulatory subunit* 3C* This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PPP1R3B Gene protein phosphatase 1, regulatory subunit* 3B* This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
PPP1R3A Gene protein phosphatase 1, regulatory subunit* 3A* The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
PPP1R37 Gene protein phosphatase 1, regulatory subunit* 37* Predicted to enable protein phosphatase inhibitor activity. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R36 Gene protein phosphatase 1, regulatory subunit* 36* Predicted to enable phosphatase binding activity and protein phosphatase inhibitor activity. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R35 Gene protein phosphatase 1, regulatory subunit* 35* Predicted to enable phosphatase binding activity and protein phosphatase inhibitor activity. Involved in positive regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R32 Gene protein phosphatase 1, regulatory subunit* 32* Enables phosphatase binding activity. Predicted to be involved in flagellated sperm motility. Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]
LOC101930161 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
LOC101930165 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
MED12L Gene mediator complex subunit* 12-like* The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
PPP1R12A Gene protein phosphatase 1, regulatory subunit* 12A* Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PPP1R12B Gene protein phosphatase 1, regulatory subunit* 12B* Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two isoforms of MYPT have been isolated--MYPT1 and MYPT2, the first of which is widely expressed, and the second of which may be specific to heart, skeletal muscle, and brain. Each of the MYPT isoforms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different isoforms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]
PPP1R12C Gene protein phosphatase 1, regulatory subunit* 12C* The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
LOC648442 Gene eukaryotic translation initiation factor 3, subunit* I pseudogene*
ALG13 Gene ALG13, UDP-N-acetylglucosaminyltransferase subunit The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
ALG14 Gene ALG14, UDP-N-acetylglucosaminyltransferase subunit This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
EIF3KP3 Gene eukaryotic translation initiation factor 3, subunit* K pseudogene 3*
GATB Gene glutamyl-tRNA(Gln) amidotransferase, subunit* B* Contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Mar 2025]
GATC Gene glutamyl-tRNA(Gln) amidotransferase, subunit* C* Predicted to enable ATP binding activity and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 42. [provided by Alliance of Genome Resources, Mar 2025]
CSTF1 Gene cleavage stimulation factor, 3' pre-RNA, subunit* 1, 50kDa* This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
CSTF3 Gene cleavage stimulation factor, 3' pre-RNA, subunit* 3, 77kDa* The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CSTF2 Gene cleavage stimulation factor, 3' pre-RNA, subunit* 2, 64kDa* This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]
PPP6R2 Gene protein phosphatase 6, regulatory subunit* 2* The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]
PPP6R3 Gene protein phosphatase 6, regulatory subunit* 3* Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
PPP6R1 Gene protein phosphatase 6, regulatory subunit* 1* Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
POLE Gene polymerase (DNA directed), epsilon, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
PSMD9 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
ATP5EP1 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit* pseudogene 1*
ATP5EP2 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit* pseudogene 2* Predicted to enable hydrolase activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422526 Gene proteasome (prosome, macropain) activator subunit* 3 (PA28 gamma; Ki) pseudogene*
PPP1R26P1 Gene protein phosphatase 1, regulatory subunit* 26 pseudogene 1*
CACNG8 Gene calcium channel, voltage-dependent, gamma subunit* 8* The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non-AUG (CUG) start codon. [provided by RefSeq, Dec 2010]
CACNG3 Gene calcium channel, voltage-dependent, gamma subunit* 3* The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]
CACNG6 Gene calcium channel, voltage-dependent, gamma subunit* 6* Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
CACNG7 Gene calcium channel, voltage-dependent, gamma subunit* 7* The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
COPB1 Gene coatomer protein complex, subunit* beta 1* This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
COPB2 Gene coatomer protein complex, subunit* beta 2 (beta prime)* The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]
LOC100131868 Gene serine/threonine-protein phosphatase 4 regulatory subunit* 2-like*
LOC100288663 Gene actin related protein 2/3 complex, subunit* 1A, 41kDa pseudogene*
ATP6V1E1P3 Gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit* E1 pseudogene 3*
CCT4P1 Gene chaperonin containing TCP1, subunit* 4 (delta) pseudogene 1*
MED1 Gene mediator complex subunit* 1* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
MED6 Gene mediator complex subunit* 6* Enables transcription coactivator activity and transcription coactivator binding activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of core mediator complex and mediator complex. [provided by Alliance of Genome Resources, Mar 2025]
MED4 Gene mediator complex subunit* 4* This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
MED8 Gene mediator complex subunit* 8* This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
MED9 Gene mediator complex subunit* 9* The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PPP5C Gene protein phosphatase 5, catalytic subunit This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
AP3S2 Gene adaptor-related protein complex 3, sigma 2 subunit Predicted to be involved in anterograde synaptic vesicle transport and vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of AP-3 adaptor complex. [provided by Alliance of Genome Resources, Mar 2025]
AP3S1 Gene adaptor-related protein complex 3, sigma 1 subunit This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
LOC340569 Gene origin recognition complex, subunit* 1 pseudogene*
LOC100131284 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 pseudogene
COX7BP2 Gene cytochrome c oxidase subunit* VIIb pseudogene 2*
COX7BP1 Gene cytochrome c oxidase subunit* VIIb pseudogene 1*
POLE2 Gene polymerase (DNA directed), epsilon 2, accessory subunit DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
EIF2S1 Gene eukaryotic translation initiation factor 2, subunit* 1 alpha, 35kDa* The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
EIF2S3 Gene eukaryotic translation initiation factor 2, subunit* 3 gamma, 52kDa* The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]
EIF2S2 Gene eukaryotic translation initiation factor 2, subunit* 2 beta, 38kDa* Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
CDKAL1 Gene CDK5 regulatory subunit* associated protein 1-like 1* The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
VKORC1 Gene vitamin K epoxide reductase complex, subunit* 1* This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
ATP5HP1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* d, pseudogene 1*
ATP5HP3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* d, pseudogene 3*
ATP5HP2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* d, pseudogene 2*
ATP5HP4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* d, pseudogene 4*
PPP4R4 Gene protein phosphatase 4, regulatory subunit* 4* The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
PPP4R1 Gene protein phosphatase 4, regulatory subunit* 1* This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PPP4R2 Gene protein phosphatase 4, regulatory subunit* 2* The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
SRPRB Gene signal recognition particle receptor, B subunit The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
FARSB Gene phenylalanyl-tRNA synthetase, beta subunit This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
FARSA Gene phenylalanyl-tRNA synthetase, alpha subunit Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
IL23A Gene interleukin 23, alpha subunit* p19* This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]
POLE4 Gene polymerase (DNA-directed), epsilon 4, accessory subunit POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
LOC645852 Gene splicing factor 3a, subunit* 2, 66kDa pseudogene*
VKORC1L1 Gene vitamin K epoxide reductase complex, subunit* 1-like 1* This gene encodes an enzyme important in the vitamin K cycle, which is involved in the carboxylation of glutamate residues present in vitamin K-dependent proteins. The encoded enzyme catalyzes the de-epoxidation of vitamin K 2,3-epoxide. Oxidative stress may upregulate expression of this gene and the encoded protein may protect cells and membrane proteins form oxidative damage. This gene and a related gene (Gene ID: 79001) may have arisen by gene duplication of an ancestral gene. [provided by RefSeq, Oct 2016]
COX7A2P2 Gene cytochrome c oxidase subunit* VIIa polypeptide 2 (liver) pseudogene 2* Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC646794 Gene SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) pseudogene
BLOC1S5 Gene biogenesis of lysosomal organelles complex-1, subunit* 5, muted* This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
BLOC1S3 Gene biogenesis of lysosomal organelles complex-1, subunit* 3* This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
BLOC1S2 Gene biogenesis of lysosomal organelles complex-1, subunit* 2* This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
EMC9 Gene ER membrane protein complex subunit* 9* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in cytoplasm. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC8 Gene ER membrane protein complex subunit* 8* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in Golgi apparatus and endoplasmic reticulum. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC3 Gene ER membrane protein complex subunit* 3* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC2 Gene ER membrane protein complex subunit* 2* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC1 Gene ER membrane protein complex subunit* 1* This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
EMC7 Gene ER membrane protein complex subunit* 7* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC6 Gene ER membrane protein complex subunit* 6* Contributes to membrane insertase activity. Involved in autophagosome assembly; protein insertion into ER membrane by stop-transfer membrane-anchor sequence; and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane and omegasome membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
EMC4 Gene ER membrane protein complex subunit* 4* Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
RPP21 Gene ribonuclease P/MRP 21kDa subunit RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]
RPP25 Gene ribonuclease P/MRP 25kDa subunit Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in centriolar satellite and nucleoplasm. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. Biomarker of autistic disorder. [provided by Alliance of Genome Resources, Mar 2025]
EZH1 Gene enhancer of zeste 1 polycomb repressive complex 2 subunit EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]
EZH2 Gene enhancer of zeste 2 polycomb repressive complex 2 subunit This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
TEN1 Gene TEN1 CST complex subunit C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
NAA40 Gene N(alpha)-acetyltransferase 40, NatD catalytic subunit Enables histone H2A acetyltransferase activity; histone H4 acetyltransferase activity; and peptide-serine-alpha-N-acetyltransferase activity. Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within lipid metabolic process. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
LOC100288385 Gene cytochrome c oxidase subunit* VIIa polypeptide 2 like pseudogene*
LOC100289479 Gene cytochrome c oxidase subunit* VIIb pseudogene*
PGGT1B Gene protein geranylgeranyltransferase type I, beta subunit Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
KANSL3 Gene KAT8 regulatory NSL complex subunit* 3* Involved in regulation of mitochondrial transcription. Located in mitochondrion and nucleoplasm. Part of NSL complex. [provided by Alliance of Genome Resources, Mar 2025]
KANSL2 Gene KAT8 regulatory NSL complex subunit* 2* Predicted to be involved in positive regulation of DNA-templated transcription. Located in several cellular components, including actin cytoskeleton; cytosol; and nucleoplasm. Part of NSL complex. [provided by Alliance of Genome Resources, Mar 2025]
KANSL1 Gene KAT8 regulatory NSL complex subunit* 1* This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
CDK5R1 Gene cyclin-dependent kinase 5, regulatory subunit* 1 (p35)* The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]
LOC105369241 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
LOC441241 Gene vitamin K epoxide reductase complex, subunit* 1-like 1 pseudogene*
SCN8A Gene sodium channel, voltage gated, type VIII alpha subunit This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
SPCS2P1 Gene signal peptidase complex subunit* 2 homolog (S. cerevisiae) pseudogene 1*
SPCS2P2 Gene signal peptidase complex subunit* 2 homolog (S. cerevisiae) pseudogene 2*
INTS3 Gene integrator complex subunit* 3* The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]
INTS2 Gene integrator complex subunit* 2* INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS1 Gene integrator complex subunit* 1* INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS7 Gene integrator complex subunit* 7* This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
INTS6 Gene integrator complex subunit* 6* DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3' end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]
INTS5 Gene integrator complex subunit* 5* The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]
INTS4 Gene integrator complex subunit* 4* INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS9 Gene integrator complex subunit* 9* This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
INTS8 Gene integrator complex subunit* 8* This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
LOC642502 Gene succinate dehydrogenase complex, subunit* C, integral membrane protein, 15kDa pseudogene*
PSMF1 Gene proteasome (prosome, macropain) inhibitor subunit* 1 (PI31)* The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
SNF8 Gene SNF8, ESCRT-II complex subunit The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
LOC100422275 Gene proteasome (prosome, macropain) subunit, beta type, 5 pseudogene
PPP1R1AP1 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 1A pseudogene 1*
CCT3P1 Gene chaperonin containing TCP1, subunit* 3 (gamma) pseudogene 1*
LOC100533947 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC100533946 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC100422287 Gene proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene
LOC100422286 Gene proteasome (prosome, macropain) subunit, alpha type, 1 pseudogene
MED28P3 Gene mediator complex subunit* 28 pseudogene 3*
MED28P1 Gene mediator complex subunit* 28 pseudogene 1*
MED28P7 Gene mediator complex subunit* 28 pseudogene 7*
MED28P4 Gene mediator complex subunit* 28 pseudogene 4*
MED28P8 Gene mediator complex subunit* 28 pseudogene 8*
CNOT4P1 Gene CCR4-NOT transcription complex, subunit* 4 pseudogene 1*
GID4 Gene GID complex subunit* 4* The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PSMA3P Gene proteasome (prosome, macropain) subunit, alpha type, 3 pseudogene
GID8 Gene GID complex subunit* 8* Predicted to enable protein homodimerization activity. Involved in positive regulation of canonical Wnt signaling pathway and positive regulation of cell population proliferation. Located in cell junction; cytosol; and nucleoplasm. Part of ubiquitin ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
ANAPC13 Gene anaphase promoting complex subunit* 13* This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]
LOC730268 Gene anaphase-promoting complex subunit* 1-like*
LOC105377637 Gene transcription initiation factor TFIID subunit* 4-like*
PPP1R7 Gene protein phosphatase 1, regulatory subunit* 7* This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
BRF2 Gene BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
BRF1 Gene BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
PPP1R2 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2* Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
LOC102724642 Gene anaphase-promoting complex subunit* 1-like*
LOC101060022 Gene nascent polypeptide-associated complex subunit* alpha, muscle-specific form-like*
COLQ Gene collagen-like tail subunit* (single strand of homotrimer) of asymmetric acetylcholinesterase* This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CNOT6L Gene CCR4-NOT transcription complex, subunit* 6-like* Predicted to enable poly(A)-specific ribonuclease activity. Involved in positive regulation of cell population proliferation and positive regulation of cytoplasmic mRNA processing body assembly. Located in cytosol and nucleus. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100130731 Gene proteasome (prosome, macropain) subunit, beta type, 1 pseudogene
PRKAA2 Gene protein kinase, AMP-activated, alpha 2 catalytic subunit The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]
PRKAA1 Gene protein kinase, AMP-activated, alpha 1 catalytic subunit The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
INTS6P1 Gene integrator complex subunit* 6 pseudogene 1*
NAA11 Gene N(alpha)-acetyltransferase 11, NatA catalytic subunit Enables peptide alpha-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation. Located in several cellular components, including Golgi apparatus; centrosome; and nucleoplasm. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC101928892 Gene nascent polypeptide-associated complex subunit* alpha, muscle-specific form-like*
LOC100131360 Gene serine/threonine-protein phosphatase 4 regulatory subunit* 2-like*
COPZ1 Gene coatomer protein complex, subunit* zeta 1* This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
COPZ2 Gene coatomer protein complex, subunit* zeta 2* This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]
RNASEH2CP1 Gene ribonuclease H2, subunit* C pseudogene 1*
CCT8L1P Gene chaperonin containing TCP1, subunit* 8 (theta)-like 1, pseudogene* Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Predicted to be located in cytoplasm. Predicted to be part of chaperonin-containing T-complex. [provided by Alliance of Genome Resources, Mar 2025]
GNPTG Gene N-acetylglucosamine-1-phosphate transferase, gamma subunit This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
COX6CP5 Gene cytochrome c oxidase subunit* VIc pseudogene 5*
COX6CP6 Gene cytochrome c oxidase subunit* VIc pseudogene 6*
COPG2 Gene coatomer protein complex, subunit* gamma 2* Predicted to enable structural molecule activity. Involved in intra-Golgi vesicle-mediated transport. Part of COPI vesicle coat. [provided by Alliance of Genome Resources, Mar 2025]
COPG1 Gene coatomer protein complex, subunit* gamma 1* Predicted to enable structural molecule activity. Predicted to be involved in several processes, including Golgi vesicle transport; establishment of Golgi localization; and organelle transport along microtubule. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Mar 2025]
PGGT1BP2 Gene protein geranylgeranyltransferase type I, beta subunit* pseudogene 2*
PFDN1 Gene prefoldin subunit* 1* This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PFDN2 Gene prefoldin subunit* 2* This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PFDN5 Gene prefoldin subunit* 5* This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PFDN4 Gene prefoldin subunit* 4* This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PFDN6 Gene prefoldin subunit* 6* PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]
LOC100422263 Gene serine palmitoyltransferase, long chain base subunit* 2 pseudogene*
DDOST Gene dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit* (non-catalytic)* This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
SDHCP1 Gene succinate dehydrogenase complex, subunit* C pseudogene 1*
SDHCP2 Gene succinate dehydrogenase complex, subunit* C pseudogene 2*
SDHCP3 Gene succinate dehydrogenase complex, subunit* C pseudogene 3*
SDHCP4 Gene succinate dehydrogenase complex, subunit* C pseudogene 4*
LOC391349 Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* delta pseudogene*
RALGAPA1P Gene Ral GTPase activating protein, alpha subunit* 1 (catalytic) pseudogene*
PSMD2P1 Gene proteasome 26S subunit, non-ATPase, 2 pseudogene 1
SPTLC1P3 Gene serine palmitoyltransferase, long chain base subunit* 1 pseudogene 3*
LOC100420127 Gene mediator complex subunit* 13 pseudogene*
GABPA Gene GA binding protein transcription factor, alpha subunit* 60kDa* This gene encodes one of three GA-binding protein transcription factor subunits which functions as a DNA-binding subunit. Since this subunit shares identity with a subunit encoding the nuclear respiratory factor 2 gene, it is likely involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. This subunit also shares identity with a subunit constituting the transcription factor E4TF1, responsible for expression of the adenovirus E4 gene. Because of its chromosomal localization and ability to form heterodimers with other polypeptides, this gene may play a role in the Down Syndrome phenotype. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2010]
EIF3LP2 Gene eukaryotic translation initiation factor 3, subunit* L pseudogene 2*
EIF3LP3 Gene eukaryotic translation initiation factor 3, subunit* L pseudogene 3*
EIF3LP1 Gene eukaryotic translation initiation factor 3, subunit* L pseudogene 1*
KCNE2 Gene potassium channel, voltage gated subfamily E regulatory beta subunit* 2* Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
KCNE3 Gene potassium channel, voltage gated subfamily E regulatory beta subunit* 3* Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
KCNE1 Gene potassium channel, voltage gated subfamily E regulatory beta subunit* 1* The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
KCNE4 Gene potassium channel, voltage gated subfamily E regulatory beta subunit* 4* Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]
KCNE5 Gene potassium channel, voltage gated subfamily E regulatory beta subunit* 5* This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
LOC100418630 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
G6PC Gene glucose-6-phosphatase, catalytic subunit Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
PSME2P2 Gene proteasome activator subunit* 2 pseudogene 2*
PSME2P1 Gene proteasome activator subunit* 2 pseudogene 1*
LOC105370378 Gene splicing factor 3B subunit* 4-like*
PPP2R3B Gene protein phosphatase 2, regulatory subunit* B'', beta* Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B''. [provided by RefSeq, Apr 2010]
PPP2R3C Gene protein phosphatase 2, regulatory subunit* B'', gamma* This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PPP2R3A Gene protein phosphatase 2, regulatory subunit* B'', alpha* This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B''. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]
CCT6A Gene chaperonin containing TCP1, subunit* 6A (zeta 1)* The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010]
CCT6B Gene chaperonin containing TCP1, subunit* 6B (zeta 2)* This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
LOC101929851 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
CTDP1 Gene CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit* 1* This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
ASCC3 Gene activating signal cointegrator 1 complex subunit* 3* This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ASCC2 Gene activating signal cointegrator 1 complex subunit* 2* Enables K63-linked polyubiquitin modification-dependent protein binding activity. Involved in regulation of DNA-templated transcription; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Located in nucleus. Part of DNA repair complex and activating signal cointegrator 1 complex. Is active in cytosolic ribosome. [provided by Alliance of Genome Resources, Mar 2025]
ASCC1 Gene activating signal cointegrator 1 complex subunit* 1* This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
CACNB3 Gene calcium channel, voltage-dependent, beta 3 subunit This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
CACNB2 Gene calcium channel, voltage-dependent, beta 2 subunit This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
CACNB1 Gene calcium channel, voltage-dependent, beta 1 subunit The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
CACNB4 Gene calcium channel, voltage-dependent, beta 4 subunit This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
LOC729674 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 2 pseudogene
CACNG1 Gene calcium channel, voltage-dependent, gamma subunit* 1* Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
LOC105379572 Gene KAT8 regulatory NSL complex subunit* 1-like*
COX7CP1 Gene cytochrome c oxidase subunit* VIIc pseudogene 1*
SPCS2P4 Gene signal peptidase complex subunit* 2 homolog (S. cerevisiae) pseudogene 4*
SPCS2P3 Gene signal peptidase complex subunit* 2 homolog (S. cerevisiae) pseudogene 3*
KATNA1 Gene katanin p60 (ATPase containing) subunit* A 1* Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]
ATP5A1P4 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 4*
ATP5A1P5 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 5*
ATP5A1P7 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 7*
ATP5A1P2 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 2*
ATP5A1P3 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 3*
ATP5A1P8 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 8*
PPP1R8 Gene protein phosphatase 1, regulatory subunit* 8* This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]
AP2S1 Gene adaptor-related protein complex 2, sigma 1 subunit One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
NAA16 Gene N(alpha)-acetyltransferase 16, NatA auxiliary subunit Enables ribosome binding activity. Involved in N-terminal protein amino acid acetylation; negative regulation of apoptotic process; and protein stabilization. Located in cytosol. Part of NatA complex. [provided by Alliance of Genome Resources, Mar 2025]
NAA15 Gene N(alpha)-acetyltransferase 15, NatA auxiliary subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes the auxillary subunit of the N-terminal acetyltransferase A (NatA) complex. [provided by RefSeq, Jan 2017]
NAA10 Gene N(alpha)-acetyltransferase 10, NatA catalytic subunit N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PSMC1P9 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 9
PSMC1P8 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 8
PSMC1P2 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 2
PSMC1P1 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 1
PSMC1P7 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 7
PSMC1P6 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 6
PSMC1P4 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 4
HAUS8 Gene HAUS augmin-like complex, subunit* 8* HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
HAUS6 Gene HAUS augmin-like complex, subunit* 6* The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
HAUS7 Gene HAUS augmin-like complex, subunit* 7* This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
HAUS4 Gene HAUS augmin-like complex, subunit* 4* This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
HAUS5 Gene HAUS augmin-like complex, subunit* 5* HAUS5 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
HAUS2 Gene HAUS augmin-like complex, subunit* 2* The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]
HAUS3 Gene HAUS augmin-like complex, subunit* 3* This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
HAUS1 Gene HAUS augmin-like complex, subunit* 1* HAUS1 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb 'augmentare,' meaning 'to increase.' The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
ATP5A1P10 Gene ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit* 1 pseudogene 10*
COX6A1P2 Gene cytochrome c oxidase subunit* VIa polypeptide 1 pseudogene 2*
COX6A1P1 Gene cytochrome c oxidase subunit* VIa polypeptide 1 pseudogene 1*
LOC102724070 Gene NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit* 5 pseudogene*
SCN5A Gene sodium channel, voltage gated, type V alpha subunit The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
RALGAPA2 Gene Ral GTPase activating protein, alpha subunit* 2 (catalytic)* Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
KCNMB1 Gene potassium channel subfamily M regulatory beta subunit* 1* MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]
KCNMB3 Gene potassium channel subfamily M regulatory beta subunit* 3* MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]
KCNMB2 Gene potassium channel subfamily M regulatory beta subunit* 2* MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants of this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]
KCNMB4 Gene potassium channel subfamily M regulatory beta subunit* 4* MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range of current activation to more negative potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]
LOC100132812 Gene nascent polypeptide-associated complex alpha subunit* 2 pseudogene*
PSENEN Gene presenilin enhancer gamma secretase subunit Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
LOC100422317 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 5 pseudogene
CCT8 Gene chaperonin containing TCP1, subunit* 8 (theta)* This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]
CCT2 Gene chaperonin containing TCP1, subunit* 2 (beta)* The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
CCT3 Gene chaperonin containing TCP1, subunit* 3 (gamma)* The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
CCT7 Gene chaperonin containing TCP1, subunit* 7 (eta)* This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]
CCT4 Gene chaperonin containing TCP1, subunit* 4 (delta)* The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]
CCT5 Gene chaperonin containing TCP1, subunit* 5 (epsilon)* The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Mutations in this gene cause hereditary sensory and autonomic neuropathy with spastic paraplegia (HSNSP). Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 13. [provided by RefSeq, Apr 2015]
TSEN15 Gene TSEN15 tRNA splicing endonuclease subunit This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]
SEC61B Gene Sec61 beta subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]
MED10 Gene mediator complex subunit* 10* MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED11 Gene mediator complex subunit* 11* MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED12 Gene mediator complex subunit* 12* The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]
MED13 Gene mediator complex subunit* 13* This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
MED14 Gene mediator complex subunit* 14* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein contains a bipartite nuclear localization signal. This gene is known to escape chromosome X-inactivation. [provided by RefSeq, Jul 2008]
MED15 Gene mediator complex subunit* 15* The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
MED16 Gene mediator complex subunit* 16* Enables nuclear thyroid hormone receptor binding activity and transcription coactivator activity. Involved in positive regulation of transcription initiation by RNA polymerase II. Located in membrane. Part of core mediator complex and mediator complex. [provided by Alliance of Genome Resources, Mar 2025]
MED17 Gene mediator complex subunit* 17* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
MED18 Gene mediator complex subunit* 18* MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED19 Gene mediator complex subunit* 19* The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
COPS8P2 Gene COP9 signalosome subunit* 8 pseudogene 2*
LOC283922 Gene pyruvate dehydrogenase phosphatase regulatory subunit* pseudogene*
SCNN1G Gene sodium channel, non voltage gated 1 gamma subunit Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
XKR9 Gene XK, Kell blood group complex subunit-related family, member 9 Predicted to enable phospholipid scramblase activity. Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
XKR8 Gene XK, Kell blood group complex subunit-related family, member 8 Enables phospholipid scramblase activity. Involved in engulfment of apoptotic cell; phosphatidylserine exposure on apoptotic cell surface; and positive regulation of myoblast differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
RPP40P1 Gene ribonuclease P/MRP 40kDa subunit* pseudogene 1*
RPP40P2 Gene ribonuclease P/MRP 40kDa subunit* pseudogene 2*
PSMA6P3 Gene proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 3
ATP5F1P1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 1*
ATP5F1P3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 3*
ATP5F1P5 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 5*
ATP5F1P4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 4*
ATP5F1P7 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 7*
ATP5F1P6 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 6*
CRSP8P Gene mediator complex subunit* 27 pseudogene*
RPP38 Gene ribonuclease P/MRP 38kDa subunit Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in fibrillar center. Part of multimeric ribonuclease P complex. [provided by Alliance of Genome Resources, Mar 2025]
RPP30 Gene ribonuclease P/MRP 30kDa subunit Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100420890 Gene anaphase promoting complex subunit* 1 pseudogene*
NCBP1 Gene nuclear cap binding protein subunit* 1, 80kDa* The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]
NCBP2 Gene nuclear cap binding protein subunit* 2, 20kDa* The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
AP3D1 Gene adaptor-related protein complex 3, delta 1 subunit The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
BRK1 Gene BRICK1, SCAR/WAVE actin-nucleating complex subunit Enables identical protein binding activity. Contributes to small GTPase binding activity. Involved in Rac protein signal transduction and positive regulation of cellular component organization. Located in extracellular exosome. Part of SCAR complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC101930171 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
CACNA1H Gene calcium channel, voltage-dependent, T type, alpha 1H subunit This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
CACNA1I Gene calcium channel, voltage-dependent, T type, alpha 1I subunit This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
CACNA1A Gene calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
CACNA1B Gene calcium channel, voltage-dependent, N type, alpha 1B subunit The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
CACNA1C Gene calcium channel, voltage-dependent, L type, alpha 1C subunit This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
CACNA1D Gene calcium channel, voltage-dependent, L type, alpha 1D subunit Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
CACNA1E Gene calcium channel, voltage-dependent, R type, alpha 1E subunit Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
CACNA1F Gene calcium channel, voltage-dependent, L type, alpha 1F subunit This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
HIF1A Gene hypoxia inducible factor 1, alpha subunit* (basic helix-loop-helix transcription factor)* This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
PRKAB2 Gene protein kinase, AMP-activated, beta 2 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
PRKAB1 Gene protein kinase, AMP-activated, beta 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]
LOC100418682 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene*
LOC100418683 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene*
LOC100418684 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene*
RALGAPA1 Gene Ral GTPase activating protein, alpha subunit* 1 (catalytic)* This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
LOC100287928 Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit* pseudogene*
HADHB Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
HADHA Gene hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
LOC101927180 Gene V-type proton ATPase subunit* F pseudogene*
AP1M2 Gene adaptor-related protein complex 1, mu 2 subunit This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
AP1M1 Gene adaptor-related protein complex 1, mu 1 subunit The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MT-ATP8 Gene ATP synthase F0 subunit* 8* Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]
MT-ATP6 Gene ATP synthase F0 subunit* 6* Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Mar 2025]
CACNG5 Gene calcium channel, voltage-dependent, gamma subunit* 5* The protein encoded by this gene is a type II transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type I TARP and a calcium channel gamma subunit. This gene is a susceptibility locus for schizophrenia and bipolar disorder. [provided by RefSeq, Dec 2010]
PSMC3P Gene proteasome (prosome, macropain) 26S subunit, ATPase, 3 pseudogene
PSMC1 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit and a 20S core alpha subunit interact specifically with the hepatitis B virus X protein, a protein critical to viral replication. This subunit also interacts with the adenovirus E1A protein and this interaction alters the activity of the proteasome. Finally, this subunit interacts with ataxin-7, suggesting a role for the proteasome in the development of spinocerebellar ataxia type 7, a progressive neurodegenerative disorder. [provided by RefSeq, Jul 2008]
PSMC2 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 2 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]
PSMC3 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 3 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PSMC4 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 4 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMC5 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 5 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PSMC6 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]
MT-CO1 Gene cytochrome c oxidase subunit* I* Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. [provided by Alliance of Genome Resources, Mar 2025]
MT-CO2 Gene cytochrome c oxidase subunit* II* Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of mitochondrial membrane and respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]
LOC100288016 Gene serine/threonine-protein phosphatase 4 regulatory subunit* 2-like*
LOC100288010 Gene cytochrome c oxidase subunit* VIIa polypeptide 2 like pseudogene*
LOC100422587 Gene platelet-activating factor acetylhydrolase 1b, regulatory subunit* 1 (45kDa) pseudogene*
KATNAL1 Gene katanin p60 subunit* A-like 1* Enables identical protein binding activity and microtubule severing ATPase activity. Involved in microtubule severing. Located in cytoplasm; microtubule; and spindle pole. Part of katanin complex. [provided by Alliance of Genome Resources, Mar 2025]
KATNAL2 Gene katanin p60 subunit* A-like 2* Predicted to enable ATP hydrolysis activity. Predicted to be involved in cytoplasmic microtubule organization. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Mar 2025]
LOC341056 Gene SUMO1 activating enzyme subunit* 1 pseudogene*
PSMD8P1 Gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1
ATP5LP5 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 5*
ATP5LP4 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 4*
ATP5LP7 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 7*
ATP5LP6 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 6*
ATP5LP1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 1*
ATP5LP3 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 3*
ATP5LP2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 2*
ATP6V1G1P5 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1 pseudogene 5*
ATP5LP8 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* g, pseudogene 8*
MED7 Gene mediator complex subunit* 7* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
HAUS4P1 Gene HAUS augmin-like complex, subunit* 4 pseudogene 1*
PPP1R1A Gene protein phosphatase 1, regulatory (inhibitor) subunit* 1A* Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R1C Gene protein phosphatase 1, regulatory (inhibitor) subunit* 1C* Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]
PPP1R1B Gene protein phosphatase 1, regulatory (inhibitor) subunit* 1B* This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
LOC100422212 Gene eukaryotic translation initiation factor 3, subunit* J pseudogene*
PPP1R11 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 11* This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]
PPP1R10 Gene protein phosphatase 1, regulatory subunit* 10* This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PPP1R18 Gene protein phosphatase 1, regulatory subunit* 18* Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]
PSMD7P1 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 pseudogene 1
EMC10 Gene ER membrane protein complex subunit* 10* Contributes to membrane insertase activity. Involved in positive regulation of angiogenesis; positive regulation of endothelial cell proliferation; and protein insertion into ER membrane. Located in endoplasmic reticulum membrane and extracellular region. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC105369255 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
COX8BP Gene cytochrome c oxidase subunit* VIIIB, pseudogene* Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008]
OSTCP6 Gene oligosaccharyltransferase complex subunit* pseudogene 6*
OSTCP5 Gene oligosaccharyltransferase complex subunit* pseudogene 5*
OSTCP3 Gene oligosaccharyltransferase complex subunit* pseudogene 3*
OSTCP1 Gene oligosaccharyltransferase complex subunit* pseudogene 1*
OSTCP8 Gene oligosaccharyltransferase complex subunit* pseudogene 8*
LOC220729 Gene succinate dehydrogenase complex, subunit* A, flavoprotein (Fp) pseudogene*
LOC101060016 Gene signal peptidase complex subunit* 3-like*
LOC100128362 Gene protein phosphatase 2, catalytic subunit, alpha isozyme pseudogene
SUZ12 Gene SUZ12 polycomb repressive complex 2 subunit This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
PPP1R2P3 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 3* Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]
LOC100422501 Gene COP9 signalosome subunit* 2 pseudogene*
AP4S1 Gene adaptor-related protein complex 4, sigma 1 subunit This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]
LOC100652955 Gene COP9 signalosome complex subunit* 3 pseudogene*
PPP1R9A Gene protein phosphatase 1, regulatory subunit* 9A* This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PPP1R9B Gene protein phosphatase 1, regulatory subunit* 9B* This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PSME2P5 Gene proteasome activator subunit* 2 pseudogene 5*
LOC100328982 Gene eukaryotic translation initiation factor 2, subunit* 3 gamma, 52kDa pseudogene*
KATNB1 Gene katanin p80 (WD repeat containing) subunit* B 1* Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
CCT7P2 Gene chaperonin containing TCP1, subunit* 7 (eta) pseudogene 2*
CCT7P1 Gene chaperonin containing TCP1, subunit* 7 (eta) pseudogene 1*
CCT5-2P Gene chaperonin containing TCP1, subunit* 5 (epsilon) pseudogene 2*
BLOC1S4 Gene biogenesis of lysosomal organelles complex-1, subunit* 4, cappuccino* This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
ARPC1B Gene actin related protein 2/3 complex, subunit* 1B, 41kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
ARPC1A Gene actin related protein 2/3 complex, subunit* 1A, 41kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
LOC441806 Gene proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 pseudogene
BSND Gene barttin CLCNK-type chloride channel accessory beta subunit This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
SCN2B Gene sodium channel, voltage gated, type II beta subunit The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
SCN2A Gene sodium channel, voltage gated, type II alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
LOC100129776 Gene eukaryotic translation initiation factor 2, subunit* 3 gamma, 52kDa pseudogene*
LOC402096 Gene anaphase-promoting complex subunit* 1-like*
SDHDP7 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 7*
SDHDP6 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 6*
SDHDP5 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 5*
SDHDP4 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 4*
SDHDP3 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 3*
SDHDP2 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 2*
SDHDP1 Gene succinate dehydrogenase complex, subunit* D, integral membrane protein pseudogene 1*
PSMC6P1 Gene proteasome 26S subunit, ATPase, 6 pseudogene 1
PSMC6P2 Gene proteasome 26S subunit, ATPase, 6 pseudogene 2
PSMC6P3 Gene proteasome 26S subunit, ATPase, 6 pseudogene 3
XKRY2 Gene XK, Kell blood group complex subunit-related, Y-linked 2 This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Nov 2020]
PPP3R2 Gene protein phosphatase 3, regulatory subunit* B, beta* Enables calcium-dependent protein serine/threonine phosphatase regulator activity. Predicted to be involved in calcineurin-mediated signaling. Predicted to act upstream of or within penetration of zona pellucida. Predicted to be located in mitochondrion and sperm mitochondrial sheath. Predicted to be part of calcineurin complex. [provided by Alliance of Genome Resources, Mar 2025]
PPP3R1 Gene protein phosphatase 3, regulatory subunit* B, alpha* Enables phosphatase binding activity and protein domain specific binding activity. Involved in calcineurin-NFAT signaling cascade and positive regulation of transcription by RNA polymerase II. Part of calcineurin complex. Implicated in Alzheimer's disease and dilated cardiomyopathy. [provided by Alliance of Genome Resources, Mar 2025]
AP5S1 Gene adaptor-related protein complex 5, sigma 1 subunit Involved in double-strand break repair via homologous recombination and endosomal transport. Located in several cellular components, including late endosome; lysosome; and nucleoplasm. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Mar 2025]
ATP5F1P2 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1 pseudogene 2*
CKS1BP7 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 7*
CKS1BP6 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 6*
CKS1BP5 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 5*
CKS1BP3 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 3*
CKS1BP2 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 2*
CKS1BP1 Gene CDC28 protein kinase regulatory subunit* 1B pseudogene 1*
ATP6V0CP1 Gene ATPase, H+ transporting, lysosomal 16kDa, V0 subunit* c pseudogene 1*
POLA2 Gene polymerase (DNA directed), alpha 2, accessory subunit Predicted to enable DNA binding activity. Involved in DNA replication initiation and DNA replication, synthesis of primer. Located in cytosol and nucleoplasm. Part of alpha DNA polymerase:primase complex. [provided by Alliance of Genome Resources, Mar 2025]
POLA1 Gene polymerase (DNA directed), alpha 1, catalytic subunit This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
KATNBL1P5 Gene katanin p80 subunit* B-like 1 pseudogene 5*
MED29 Gene mediator complex subunit* 29* MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]
MED28 Gene mediator complex subunit* 28* Predicted to enable actin binding activity. Predicted to be involved in RNA polymerase II preinitiation complex assembly; positive regulation of transcription elongation by RNA polymerase II; and positive regulation of transcription initiation by RNA polymerase II. Predicted to act upstream of or within negative regulation of smooth muscle cell differentiation and somatic stem cell population maintenance. Located in nucleoplasm. Part of core mediator complex. [provided by Alliance of Genome Resources, Mar 2025]
MED21 Gene mediator complex subunit* 21* This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
MED20 Gene mediator complex subunit* 20* This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
MED22 Gene mediator complex subunit* 22* This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
MED25 Gene mediator complex subunit* 25* This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
MED24 Gene mediator complex subunit* 24* This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MED27 Gene mediator complex subunit* 27* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
PAFAH1B1P2 Gene platelet-activating factor acetylhydrolase 1b, regulatory subunit* 1 pseudogene 2*
LOC100422463 Gene calcium channel, voltage-dependent, L type, alpha 1C subunit* pseudogene*
GCLM Gene glutamate-cysteine ligase, modifier subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
GCLC Gene glutamate-cysteine ligase, catalytic subunit Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
NAA60 Gene N(alpha)-acetyltransferase 60, NatF catalytic subunit This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015]
ATP6V1D Gene ATPase, H+ transporting, lysosomal 34kDa, V1 subunit* D* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
ATP6V1F Gene ATPase, H+ transporting, lysosomal 14kDa, V1 subunit* F* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]
ATP6V1A Gene ATPase, H+ transporting, lysosomal 70kDa, V1 subunit* A* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
ATP6V1H Gene ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit* H* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
SUCLA2 Gene succinate-CoA ligase, ADP-forming, beta subunit Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
LOC102725069 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
LOC102725060 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
LOC100131264 Gene prefoldin subunit* 4 pseudogene*
LOC101928010 Gene histone deacetylase complex subunit* SAP25 pseudogene*
AP1B1P1 Gene adaptor-related protein complex 1, beta 1 subunit* pseudogene 1*
AP1B1P2 Gene adaptor-related protein complex 1, beta 1 subunit* pseudogene 2*
COX6CP1 Gene cytochrome c oxidase subunit* VIc pseudogene 1*
COX6CP2 Gene cytochrome c oxidase subunit* VIc pseudogene 2*
COX6CP3 Gene cytochrome c oxidase subunit* VIc pseudogene 3*
COX4I2 Gene cytochrome c oxidase subunit* IV isoform 2 (lung)* Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
COX4I1 Gene cytochrome c oxidase subunit* IV isoform 1* Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
ATP6V0E1 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit* e1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c`, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
ATP6V0E2 Gene ATPase, H+ transporting V0 subunit* e2* Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]
PPP6R2P1 Gene protein phosphatase 6, regulatory subunit* 2 pseudogene 1*
EIF2B4 Gene eukaryotic translation initiation factor 2B, subunit* 4 delta, 67kDa* Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EIF2B5 Gene eukaryotic translation initiation factor 2B, subunit* 5 epsilon, 82kDa* This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
EIF2B2 Gene eukaryotic translation initiation factor 2B, subunit* 2 beta, 39kDa* This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
EIF2B3 Gene eukaryotic translation initiation factor 2B, subunit* 3 gamma, 58kDa* The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
EIF2B1 Gene eukaryotic translation initiation factor 2B, subunit* 1 alpha, 26kDa* This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
PSMA6 Gene proteasome (prosome, macropain) subunit, alpha type, 6 The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
SF3B3 Gene splicing factor 3b, subunit* 3, 130kDa* This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
HAUS1P1 Gene HAUS augmin-like complex, subunit* 1 pseudogene 1*
HAUS1P3 Gene HAUS augmin-like complex, subunit* 1 pseudogene 3*
HAUS1P2 Gene HAUS augmin-like complex, subunit* 1 pseudogene 2*
NCBP2L Gene nuclear cap binding protein subunit* 2-like* Predicted to enable RNA cap binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of nuclear cap binding activity complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC255308 Gene eukaryotic translation initiation factor 2, subunit* 3 gamma, 52kDa pseudogene* Predicted to enable translation initiation factor activity. Predicted to contribute to tRNA binding activity. Predicted to be involved in formation of translation preinitiation complex. Predicted to be part of eukaryotic translation initiation factor 2 complex. [provided by Alliance of Genome Resources, Mar 2025]
CDK5RAP2 Gene CDK5 regulatory subunit* associated protein 2* This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
CDK5RAP3 Gene CDK5 regulatory subunit* associated protein 3* This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
CDK5RAP1 Gene CDK5 regulatory subunit* associated protein 1* This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
ATP6V1B1 Gene ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit* B1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
ATP6V1B2 Gene ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit* B2* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
SEC61G Gene Sec61 gamma subunit The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
ATP5L Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* G* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
PSMC1P13 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 13
PSMC1P12 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 12
PSMC1P11 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 11
PSMC1P10 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 10
MED13L Gene mediator complex subunit* 13-like* The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
PPP1R15A Gene protein phosphatase 1, regulatory subunit* 15A* This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PPP1R15B Gene protein phosphatase 1, regulatory subunit* 15B* This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]
MALSU1 Gene mitochondrial assembly of ribosomal large subunit* 1* Enables mitochondrial large ribosomal subunit binding activity. Involved in negative regulation of mitochondrial translation and ribosomal large subunit biogenesis. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R2P1 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 1* Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R2P2 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 2*
PPP1R2P5 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 5*
PPP1R2P4 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 4*
PPP1R2P6 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 6*
PPP1R2P9 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 9* Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R2P8 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 8*
PRKAG1 Gene protein kinase, AMP-activated, gamma 1 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PRKAG3 Gene protein kinase, AMP-activated, gamma 3 non-catalytic subunit The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
PRKAG2 Gene protein kinase, AMP-activated, gamma 2 non-catalytic subunit AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PSMC1P3 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 1 pseudogene 3
FRAS1 Gene Fraser extracellular matrix complex subunit* 1* This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
LOC105379735 Gene integrator complex subunit* 4-like protein 2*
LOC101929322 Gene integrator complex subunit* 4-like protein 2*
LOC105373057 Gene DNA-directed RNA polymerase II subunit* RPB1-like*
COX7A1 Gene cytochrome c oxidase subunit* VIIa polypeptide 1 (muscle)* Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]
COX7A2 Gene cytochrome c oxidase subunit* VIIa polypeptide 2 (liver)* Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
SLX4 Gene SLX4 structure-specific endonuclease subunit This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
KATNBL1P1 Gene katanin p80 subunit* B-like 1 pseudogene 1*
KATNBL1P2 Gene katanin p80 subunit* B-like 1 pseudogene 2*
KATNBL1P3 Gene katanin p80 subunit* B-like 1 pseudogene 3*
KATNBL1P4 Gene katanin p80 subunit* B-like 1 pseudogene 4*
KATNBL1P6 Gene katanin p80 subunit* B-like 1 pseudogene 6*
AP1B1 Gene adaptor-related protein complex 1, beta 1 subunit Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PPP2R5D Gene protein phosphatase 2, regulatory subunit* B', delta* The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PPP2R5E Gene protein phosphatase 2, regulatory subunit* B', epsilon isoform* The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PPP2R5A Gene protein phosphatase 2, regulatory subunit* B', alpha* The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PPP2R5B Gene protein phosphatase 2, regulatory subunit* B', beta* The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
PPP2R5C Gene protein phosphatase 2, regulatory subunit* B', gamma* The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
COX7B Gene cytochrome c oxidase subunit* VIIb* Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]
COX7C Gene cytochrome c oxidase subunit* VIIc* Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]
BRCC3 Gene BRCA1/BRCA2-containing complex, subunit* 3* This gene encodes a subunit of the BRCA1-BRCA2-containing complex (BRCC), which is an E3 ubiquitin ligase. This complex plays a role in the DNA damage response, where it is responsible for the stable accumulation of BRCA1 at DNA break sites. The component encoded by this gene can specifically cleave Lys 63-linked polyubiquitin chains, and it regulates the abundance of these polyubiquitin chains in chromatin. The loss of this gene results in abnormal angiogenesis and is associated with syndromic moyamoya, a cerebrovascular angiopathy. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jun 2011]
CACNA1G Gene calcium channel, voltage-dependent, T type, alpha 1G subunit Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
COX6B1 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous)* Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
COX6B2 Gene cytochrome c oxidase subunit* VIb polypeptide 2 (testis)* Predicted to be involved in oxidative phosphorylation. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Mar 2025]
MT-ND4L Gene NADH dehydrogenase, subunit* 4L (complex I)* Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R42 Gene protein phosphatase 1, regulatory subunit* 42* The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [provided by RefSeq, Feb 2017]
PPP4R1L Gene protein phosphatase 4, regulatory subunit* 1-like (pseudogene)*
INO80D Gene INO80 complex subunit* D* Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Part of Ino80 complex. [provided by Alliance of Genome Resources, Mar 2025]
INO80E Gene INO80 complex subunit* E* Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Located in nucleolus and nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Mar 2025]
INO80B Gene INO80 complex subunit* B* This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]
INO80C Gene INO80 complex subunit* C* Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Part of Ino80 complex and MLL1 complex. [provided by Alliance of Genome Resources, Mar 2025]
AP2M1 Gene adaptor-related protein complex 2, mu 1 subunit This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
PIK3CA Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* alpha* Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PPP4C Gene protein phosphatase 4, catalytic subunit Enables protein serine/threonine phosphatase activity. Involved in regulation of double-strand break repair via homologous recombination. Located in cytosol; nucleoplasm; and plasma membrane. Part of chromatin and protein phosphatase 4 complex. [provided by Alliance of Genome Resources, Mar 2025]
PIK3CD Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* delta* Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]
PIK3CG Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* gamma* Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
PIK3C3 Gene phosphatidylinositol 3-kinase, catalytic subunit* type 3* Enables 1-phosphatidylinositol-3-kinase activity. Involved in several processes, including early endosome to late endosome transport; macroautophagy; and phosphatidylinositol-3-phosphate biosynthetic process. Acts upstream of or within autophagy and positive regulation of protein lipidation. Located in autolysosome; late endosome; and midbody. Part of phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Mar 2025]
SCN4A Gene sodium channel, voltage gated, type IV alpha subunit Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
COX7A2P1 Gene cytochrome c oxidase subunit* VIIa polypeptide 2 (liver) pseudogene 1*
POLD2P1 Gene polymerase (DNA directed), delta 2, accessory subunit* pseudogene 1*
SCN10A Gene sodium channel, voltage gated, type X alpha subunit The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
CCT6P4 Gene chaperonin containing TCP1, subunit* 6 (zeta) pseudogene 4*
CCT6P5 Gene chaperonin containing TCP1, subunit* 6 (zeta) pseudogene 5*
CCT6P2 Gene chaperonin containing TCP1, subunit* 6 (zeta) pseudogene 2*
CCT6P3 Gene chaperonin containing TCP1, subunit* 6 (zeta) pseudogene 3*
CCT6P1 Gene chaperonin containing TCP1, subunit* 6 (zeta) pseudogene 1*
LOC339352 Gene cytosolic thiouridylase subunit* 1 homolog (S. pombe) pseudogene*
CATSPERD Gene catsper channel auxiliary subunit* delta* Predicted to be involved in flagellated sperm motility and sperm capacitation. Predicted to be located in plasma membrane. Predicted to be part of CatSper complex. Predicted to be active in sperm principal piece. [provided by Alliance of Genome Resources, Mar 2025]
CATSPERG Gene catsper channel auxiliary subunit* gamma* CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]
HAUS6P2 Gene HAUS augmin-like complex, subunit* 6 pseudogene 2*
HAUS6P1 Gene HAUS augmin-like complex, subunit* 6 pseudogene 1*
CTU2 Gene cytosolic thiouridylase subunit* 2 homolog (S. pombe)* This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
CTU1 Gene cytosolic thiouridylase subunit* 1* Predicted to enable tRNA binding activity. Predicted to be involved in tRNA wobble position uridine thiolation. Predicted to be located in cytosol. Predicted to be part of cytosolic tRNA wobble base thiouridylase complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC101060304 Gene protein phosphatase 1 regulatory subunit* 26-like*
LOC101929870 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
CCT8L2 Gene chaperonin containing TCP1, subunit* 8 (theta)-like 2* Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Predicted to be located in cytoplasm. Predicted to be part of chaperonin-containing T-complex. [provided by Alliance of Genome Resources, Mar 2025]
CACNA1S Gene calcium channel, voltage-dependent, L type, alpha 1S subunit This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
ICE2 Gene interactor of little elongation complex ELL subunit* 2* This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]
ICE1 Gene interactor of little elongation complex ELL subunit* 1* Enables protein-macromolecule adaptor activity. Involved in several processes, including positive regulation of intracellular protein transport; positive regulation of transcription by RNA polymerase III; and snRNA transcription. Located in Cajal body; euchromatin; and histone locus body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Mar 2025]
KCNAB1 Gene potassium channel, voltage gated subfamily A regulatory beta subunit* 1* Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
KCNAB3 Gene potassium channel, voltage gated subfamily A regulatory beta subunit* 3* This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
KCNAB2 Gene potassium channel, voltage gated subfamily A regulatory beta subunit* 2* Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]
PPP1R26P3 Gene protein phosphatase 1, regulatory subunit* 26 pseudogene 3*
LOC105379556 Gene nascent polypeptide-associated complex subunit* alpha, muscle-specific form-like*
COX6B1P4 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 4*
COX6B1P3 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 3*
COX6B1P2 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 2*
COX6B1P1 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 1*
LOC101060099 Gene CST complex subunit* TEN1-like*
PSMD12P Gene proteasome 26S subunit, non-ATPase, 12 pseudogene
LOC101060093 Gene eukaryotic translation initiation factor 3 subunit* J-like*
LOC101929932 Gene AP-3 complex subunit* sigma-1 pseudogene*
LOC100422453 Gene polymerase (DNA directed), delta 1, catalytic subunit* 125kDa pseudogene*
PPP2R1A Gene protein phosphatase 2, regulatory subunit* A, alpha* This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP1R11P2 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 11 pseudogene 2*
PPP1R11P1 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 11 pseudogene 1*
NAA38 Gene N(alpha)-acetyltransferase 38, NatC auxiliary subunit Predicted to enable RNA binding activity. Involved in negative regulation of apoptotic process. Located in cytoplasm and nucleoplasm. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025]
NAA35 Gene N(alpha)-acetyltransferase 35, NatC auxiliary subunit Predicted to enable transferase activity. Involved in negative regulation of apoptotic process. Located in cytosol; nucleoplasm; and plasma membrane. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025]
NAA30 Gene N(alpha)-acetyltransferase 30, NatC catalytic subunit Enables peptide alpha-N-acetyltransferase activity. Involved in protein stabilization. Located in cytosol and nucleus. Part of NatC complex. [provided by Alliance of Genome Resources, Mar 2025]
CBFB Gene core-binding factor, beta subunit The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SF3A1 Gene splicing factor 3a, subunit* 1, 120kDa* This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
SF3A2 Gene splicing factor 3a, subunit* 2, 66kDa* This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]
SF3A3 Gene splicing factor 3a, subunit* 3, 60kDa* This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
BDP1 Gene B double prime 1, subunit* of RNA polymerase III transcription initiation factor IIIB* The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
SCN7A Gene sodium channel, voltage gated, type VII alpha subunit This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
LOC154937 Gene protein phosphatase 2, regulatory subunit* B', epsilon isoform pseudogene*
LOC100422641 Gene STT3A, subunit* of the oligosaccharyltransferase complex (catalytic) pseudogene*
CNOT8 Gene CCR4-NOT transcription complex, subunit* 8* Enables poly(A)-specific ribonuclease activity. Involved in miRNA-mediated gene silencing by mRNA destabilization and positive regulation of cell population proliferation. Located in nucleus. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
CNOT3 Gene CCR4-NOT transcription complex, subunit* 3* Involved in regulation of stem cell population maintenance. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
CNOT2 Gene CCR4-NOT transcription complex, subunit* 2* This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
CNOT1 Gene CCR4-NOT transcription complex, subunit* 1* Enables armadillo repeat domain binding activity; molecular adaptor activity; and nuclear receptor binding activity. Contributes to poly(A)-specific ribonuclease activity. Involved in several processes, including negative regulation of intracellular signal transduction; positive regulation of cytoplasmic mRNA processing body assembly; and regulation of gene expression. Located in P-body and cytosol. Part of CCR4-NOT complex. Implicated in Vissers-Bodmer syndrome and holoprosencephaly 12. [provided by Alliance of Genome Resources, Mar 2025]
CNOT7 Gene CCR4-NOT transcription complex, subunit* 7* The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. Binding of the two proteins, which is driven by phosphorylation of the anti-proliferative protein, causes signaling events in cell division that lead to changes in cell proliferation associated with cell-cell contact. The encoded protein downregulates the innate immune response and therefore provides a therapeutic target for enhancing its antimicrobial activity against foreign agents. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and X. [provided by RefSeq, Apr 2016]
CNOT6 Gene CCR4-NOT transcription complex, subunit* 6* This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3'-5' RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]
ATP5F1 Gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit* B1* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
PSME4 Gene proteasome (prosome, macropain) activator subunit* 4* Predicted to enable lysine-acetylated histone binding activity; peptidase activator activity; and proteasome binding activity. Predicted to be involved in DNA repair; proteasomal ubiquitin-independent protein catabolic process; and sperm DNA condensation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PSME2 Gene proteasome (prosome, macropain) activator subunit* 2 (PA28 beta)* The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the beta subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three beta and three alpha subunits combine to form a heterohexameric ring. Six pseudogenes have been identified on chromosomes 4, 5, 8, 10 and 13. [provided by RefSeq, Jul 2008]
PSME3 Gene proteasome (prosome, macropain) activator subunit* 3 (PA28 gamma; Ki)* The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PSME1 Gene proteasome (prosome, macropain) activator subunit* 1 (PA28 alpha)* The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
CDK5R2 Gene cyclin-dependent kinase 5, regulatory subunit* 2 (p39)* The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]
COX6B1P6 Gene cytochrome c oxidase subunit* VIb polypeptide 1 (ubiquitous) pseudogene 6*
CACNG2 Gene calcium channel, voltage-dependent, gamma subunit* 2* The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]
CACNG4 Gene calcium channel, voltage-dependent, gamma subunit* 4* The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]
LOC101060852 Gene protein phosphatase 1 regulatory subunit* 26-like*
POLD1 Gene polymerase (DNA directed), delta 1, catalytic subunit This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
POLD2 Gene polymerase (DNA directed), delta 2, accessory subunit This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]
POLD3 Gene polymerase (DNA-directed), delta 3, accessory subunit This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
ORC6 Gene origin recognition complex, subunit* 6* The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
ORC4 Gene origin recognition complex, subunit* 4* The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]
ORC5 Gene origin recognition complex, subunit* 5* The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
ORC2 Gene origin recognition complex, subunit* 2* The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. This protein forms a core complex with ORC3, -4, and -5. It also interacts with CDC45 and MCM10, which are proteins known to be important for the initiation of DNA replication. This protein has been demonstrated to specifically associate with the origin of replication of Epstein-Barr virus in human cells, and is thought to be required for DNA replication from viral origin of replication. Alternatively spliced transcript variants have been found, one of which is a nonsense-mediated mRNA decay candidate. [provided by RefSeq, Oct 2010]
ORC3 Gene origin recognition complex, subunit* 3* The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
ORC1 Gene origin recognition complex, subunit* 1* The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PIK3CB Gene phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit* beta* This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
ATP6V0E1P3 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit* e1 pseudogene 3*
ATP6V0E1P2 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit* e1 pseudogene 2*
ATP6V0E1P1 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit* e1 pseudogene 1*
ATP6V0E1P4 Gene ATPase, H+ transporting, lysosomal 9kDa, V0 subunit* e1 pseudogene 4*
GINS2 Gene GINS complex subunit* 2 (Psf2 homolog)* The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
GINS3 Gene GINS complex subunit* 3 (Psf3 homolog)* This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
GINS1 Gene GINS complex subunit* 1 (Psf1 homolog)* The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]
GINS4 Gene GINS complex subunit* 4 (Sld5 homolog)* The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
AP3B1 Gene adaptor-related protein complex 3, beta 1 subunit This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
AP3B2 Gene adaptor-related protein complex 3, beta 2 subunit Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
CCT5P2 Gene chaperonin containing TCP1, subunit* 5 (epsilon) pseudogene 2*
PPP1CB Gene protein phosphatase 1, catalytic subunit, beta isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PPP1CC Gene protein phosphatase 1, catalytic subunit, gamma isozyme The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PPP1CA Gene protein phosphatase 1, catalytic subunit, alpha isozyme The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with over 200 regulatory proteins to form holoenzymes which dephosphorylate their biological targets with high specificity. PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies suggest that PP1 is an important regulator of cardiac function and that PP1 deregulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
HIF1AN Gene hypoxia inducible factor 1, alpha subunit* inhibitor* Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
PPP1R16A Gene protein phosphatase 1, regulatory subunit* 16A* Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]
PPP1R16B Gene protein phosphatase 1, regulatory subunit* 16B* The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PPP2CA Gene protein phosphatase 2, catalytic subunit, alpha isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. [provided by RefSeq, Jul 2008]
PPP2CB Gene protein phosphatase 2, catalytic subunit, beta isozyme This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]
ARPC3 Gene actin related protein 2/3 complex, subunit* 3, 21kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
ARPC2 Gene actin related protein 2/3 complex, subunit* 2, 34kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
ARPC5 Gene actin related protein 2/3 complex, subunit* 5, 16kDa* This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
LOC102724998 Gene set1/Ash2 histone methyltransferase complex subunit* ASH2-like*
SUCLG2P4 Gene succinate-CoA ligase, GDP-forming, beta subunit* pseudogene 4*
SUCLG2P2 Gene succinate-CoA ligase, GDP-forming, beta subunit* pseudogene 2*
SUCLG2P3 Gene succinate-CoA ligase, GDP-forming, beta subunit* pseudogene 3*
SUCLG2P1 Gene succinate-CoA ligase, GDP-forming, beta subunit* pseudogene 1*
CRSP5 Gene cofactor required for Sp1 transcriptional activation, subunit* 5, 85kDa*
CSTF2T Gene cleavage stimulation factor, 3' pre-RNA, subunit* 2, 64kDa, tau variant* Enables RNA binding activity. Predicted to be involved in mRNA 3'-end processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
TSEN15P1 Gene TSEN15 tRNA splicing endonuclease subunit* pseudogene 1*
COPA Gene coatomer protein complex, subunit* alpha* In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
COPE Gene coatomer protein complex, subunit* epsilon* The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
COX8C Gene cytochrome c oxidase subunit* VIIIC* Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
COX8A Gene cytochrome c oxidase subunit* VIIIA (ubiquitous)* The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
LSG1 Gene large 60S subunit* nuclear export GTPase 1* This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.[provided by RefSeq, Feb 2009]
LOC105369987 Gene mitochondrial inner membrane protease subunit* 1 pseudogene*
LOC100130683 Gene chromatin assembly factor 1, subunit* B (p60) pseudogene*
AP5M1 Gene adaptor-related protein complex 5, mu 1 subunit Involved in endosomal transport. Located in several cellular components, including cytosol; late endosome; and lysosome. Part of AP-type membrane coat adaptor complex. [provided by Alliance of Genome Resources, Mar 2025]
POP1 Gene processing of precursor 1, ribonuclease P/MRP subunit* (S. cerevisiae)* This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
POP7 Gene processing of precursor 7, ribonuclease P/MRP subunit* (S. cerevisiae)* Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Mar 2025]
POP5 Gene processing of precursor 5, ribonuclease P/MRP subunit* (S. cerevisiae)* Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5'-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex. [provided by Alliance of Genome Resources, Mar 2025]
POP4 Gene processing of precursor 4, ribonuclease P/MRP subunit* (S. cerevisiae)* This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
NCAPD2 Gene non-SMC condensin I complex, subunit* D2* Enables histone binding activity. Involved in mitotic chromosome condensation and positive regulation of chromosome condensation. Located in condensed chromosome; cytosol; and nuclear lumen. Part of condensin complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Mar 2025]
NCAPD3 Gene non-SMC condensin II complex, subunit* D3* Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]
LOC100286973 Gene protein phosphatase 1, catalytic subunit, alpha isozyme pseudogene
LOC100128052 Gene protein phosphatase 2, regulatory subunit* B', gamma pseudogene*
ARPC3P2 Gene actin related protein 2/3 complex, subunit* 3 pseudogene 2*
ARPC3P3 Gene actin related protein 2/3 complex, subunit* 3 pseudogene 3*
ARPC3P1 Gene actin related protein 2/3 complex, subunit* 3 pseudogene 1*
ARPC3P5 Gene actin related protein 2/3 complex, subunit* 3 pseudogene 5*
LOC101101841 Gene mediator complex subunit* 21 pseudogene*
LOC102724526 Gene protein phosphatase 1 regulatory subunit* 26-like*
EIF3IP1 Gene eukaryotic translation initiation factor 3, subunit* I pseudogene 1*
LOC101059962 Gene serine/threonine-protein phosphatase 1 regulatory subunit* 10-like*
ATP6V1G3 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G3* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATP6V1G2 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G2* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]
ATP6V1G1 Gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit* G1* This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
LOC100422271 Gene proteasome (prosome, macropain) 26S subunit, ATPase, 2 pseudogene
MVB12B Gene multivesicular body subunit* 12B* The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
MVB12A Gene multivesicular body subunit* 12A* Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Mar 2025]
ANAPC15 Gene anaphase promoting complex subunit* 15* Involved in anaphase-promoting complex-dependent catabolic process; protein polyubiquitination; and regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Mar 2025]
ANAPC16 Gene anaphase promoting complex subunit* 16* Involved in anaphase-promoting complex-dependent catabolic process and protein polyubiquitination. Located in cytosol and kinetochore. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Mar 2025]
ANAPC11 Gene anaphase promoting complex subunit* 11* Enables cullin family protein binding activity and ubiquitin-ubiquitin ligase activity. Contributes to ubiquitin-protein transferase activity. Involved in anaphase-promoting complex-dependent catabolic process; positive regulation of mitotic metaphase/anaphase transition; and protein polyubiquitination. Located in nucleolus and nucleoplasm. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Mar 2025]
ANAPC10 Gene anaphase promoting complex subunit* 10* ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]
OSTC Gene oligosaccharyltransferase complex subunit* (non-catalytic)* Predicted to contribute to dolichyl-diphosphooligosaccharide-protein glycotransferase activity. Predicted to be involved in protein N-linked glycosylation. Part of oligosaccharyltransferase complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100131124 Gene adaptor-related protein complex 4, sigma 1 subunit* pseudogene*
LOC139957 Gene platelet-activating factor acetylhydrolase 1b, catalytic subunit* 2 (30kDa) pseudogene*
COX5AP2 Gene cytochrome c oxidase subunit* Va pseudogene 2*
COX5AP1 Gene cytochrome c oxidase subunit* Va pseudogene 1*
CNOT11 Gene CCR4-NOT transcription complex, subunit* 11* Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
CNOT10 Gene CCR4-NOT transcription complex, subunit* 10* Predicted to be involved in mRNA catabolic process and negative regulation of translation. Located in membrane. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100418626 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC100418627 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC100418628 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC100418629 Gene succinate-CoA ligase, ADP-forming, beta subunit* pseudogene*
LOC204800 Gene actin related protein 2/3 complex, subunit* 1A, 41kDa pseudogene*
SDHAP2 Gene succinate dehydrogenase complex, subunit* A, flavoprotein pseudogene 2*
SDHAP3 Gene succinate dehydrogenase complex, subunit* A, flavoprotein pseudogene 3*
SDHAP1 Gene succinate dehydrogenase complex, subunit* A, flavoprotein pseudogene 1*
LOC730021 Gene eukaryotic translation initiation factor 3, subunit* J pseudogene*
AP1G1 Gene adaptor-related protein complex 1, gamma 1 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
AP1G2 Gene adaptor-related protein complex 1, gamma 2 subunit Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]
XKRY Gene XK, Kell blood group complex subunit-related, Y-linked This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Nov 2020]
XKRX Gene XK, Kell blood group complex subunit-related, X-linked This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]
LOC252862 Gene CDC26 subunit* of anaphase promoting complex-related gene*
XKR5 Gene XK, Kell blood group complex subunit-related family, member 5 Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
XKR4 Gene XK, Kell blood group complex subunit-related family, member 4 Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
XKR7 Gene XK, Kell blood group complex subunit-related family, member 7 Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
XKR6 Gene XK, Kell blood group complex subunit-related family, member 6 Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
XKR3 Gene XK, Kell blood group complex subunit-related family, member 3 XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]
PSMA6P4 Gene proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 4
PSMA6P2 Gene proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 2
PSMA6P1 Gene proteasome (prosome, macropain) subunit, alpha type, 6 pseudogene 1
LOC401602 Gene adaptor-related protein complex 2, beta 1 subunit* pseudogene*
PPP2R2D Gene protein phosphatase 2, regulatory subunit* B, delta* Predicted to enable enzyme-substrate adaptor activity and protein phosphatase regulator activity. Predicted to be involved in exit from mitosis and regulation of chromosome segregation. Predicted to be located in cytoplasm. Predicted to be part of protein phosphatase type 2A complex. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Mar 2025]
PPP2R2A Gene protein phosphatase 2, regulatory subunit* B, alpha* The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP2R2C Gene protein phosphatase 2, regulatory subunit* B, gamma* The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PPP2R2B Gene protein phosphatase 2, regulatory subunit* B, beta* The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
LOC645388 Gene adaptor-related protein complex 1, mu 2 subunit* pseudogene*
LOC105375192 Gene tRNA-splicing endonuclease subunit* Sen15 pseudogene*
LOC105376854 Gene eukaryotic translation initiation factor 3 subunit* A-like*
LOC101928724 Gene eukaryotic translation initiation factor 3 subunit* J-like*
LOC101928722 Gene nascent polypeptide-associated complex subunit* alpha, muscle-specific form-like*
CATSPERB Gene catsper channel auxiliary subunit* beta* Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be located in sperm principal piece. Predicted to be part of CatSper complex. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Mar 2025]
MED26 Gene mediator complex subunit* 26* The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
PPP1R17 Gene protein phosphatase 1, regulatory subunit* 17* The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele of this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
BLOC1S2P1 Gene biogenesis of lysosomal organelles complex-1, subunit* 2 pseudogene 1*
LOC645482 Gene ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit* B2 pseudogene*
PPP1R2P10 Gene protein phosphatase 1, regulatory (inhibitor) subunit* 2 pseudogene 10*
PSMB3P2 Gene proteasome (prosome, macropain) subunit, beta type, 3 pseudogene 2
LOC100421824 Gene polymerase (DNA directed), epsilon 2, accessory subunit* pseudogene*
SF3B5 Gene splicing factor 3b, subunit* 5, 10kDa* Enables RNA binding activity and splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U12-type spliceosomal complex and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Mar 2025]
SF3B4 Gene splicing factor 3b, subunit* 4, 49kDa* This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]
SF3B6 Gene splicing factor 3b, subunit* 6, 14kDa* This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]
SF3B1 Gene splicing factor 3b, subunit* 1, 155kDa* This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SF3B2 Gene splicing factor 3b, subunit* 2, 145kDa* This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]
PPP2R5CP Gene protein phosphatase 2, regulatory subunit* B', gamma pseudogene*
TSEN2 Gene TSEN2 tRNA splicing endonuclease subunit This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
PAN3 Gene PAN3 poly(A) specific ribonuclease subunit Contributes to poly(A)-specific ribonuclease activity. Predicted to be involved in nuclear-transcribed mRNA poly(A) tail shortening. Predicted to act upstream of or within deadenylation-dependent decapping of nuclear-transcribed mRNA; positive regulation of cytoplasmic mRNA processing body assembly; and protein targeting. Part of PAN complex. [provided by Alliance of Genome Resources, Mar 2025]
PAN2 Gene PAN2 poly(A) specific ribonuclease subunit This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
COX6A1P3 Gene cytochrome c oxidase subunit* VIa polypeptide 1 pseudogene 3*
SCN4B Gene sodium channel, voltage gated, type IV beta subunit The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
SPCS1 Gene signal peptidase complex subunit* 1 homolog (S. cerevisiae)* Predicted to enable ribosome binding activity. Involved in signal peptide processing; viral protein processing; and virion assembly. Located in endoplasmic reticulum membrane. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]
SPCS2 Gene signal peptidase complex subunit* 2 homolog (S. cerevisiae)* Predicted to enable peptidase activity. Involved in signal peptide processing. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]
SPCS3 Gene signal peptidase complex subunit* 3 homolog (S. cerevisiae)* Involved in signal peptide processing and viral protein processing. Located in endoplasmic reticulum. Part of signal peptidase complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC100533706 Gene NEDD8 activating enzyme E1 subunit* 1 pseudogene*
LOC100421651 Gene caseinolytic mitochondrial matrix peptidase chaperone subunit* pseudogene*
LOC100421655 Gene adaptor-related protein complex 3, mu 2 subunit* pseudogene*
POLG2 Gene polymerase (DNA directed), gamma 2, accessory subunit This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
CNEP1R1 Gene CTD nuclear envelope phosphatase 1 regulatory subunit* 1* This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ANAPC10P1 Gene anaphase promoting complex subunit* 10 pseudogene 1*
MED6P1 Gene mediator complex subunit* 6 pseudogene 1*
RALGAPB Gene Ral GTPase activating protein, beta subunit* (non-catalytic)* Enables protein heterodimerization activity. Predicted to be involved in Ral protein signal transduction and activation of GTPase activity. Predicted to act upstream of or within regulation of exocyst localization and regulation of protein localization. [provided by Alliance of Genome Resources, Mar 2025]
PSMA7P Gene proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene
BSNDP2 Gene barttin CLCNK-type chloride channel accessory beta subunit* pseudogene 2*
APH1B Gene APH1B gamma secretase subunit This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
APH1A Gene APH1A gamma secretase subunit This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
SUCLG2 Gene succinate-CoA ligase, GDP-forming, beta subunit This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
SUCLG1 Gene succinate-CoA ligase, alpha subunit This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
LOC102725046 Gene RNA polymerase II transcription factor SIII subunit* A3-like*
BORCS6 Gene BLOC-1 related complex subunit* 6* Enables identical protein binding activity. Involved in lysosome localization. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]
BORCS7 Gene BLOC-1 related complex subunit* 7* Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]
WASHC5 Gene WASH complex subunit* 5* This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
EIF2S3B Gene eukaryotic translation initiation factor 2 subunit* gamma B* Predicted to enable translation initiation factor activity. Predicted to contribute to tRNA binding activity. Predicted to be involved in formation of translation preinitiation complex. Predicted to be part of eukaryotic translation initiation factor 2 complex. [provided by Alliance of Genome Resources, Mar 2025]
POLR1G Gene RNA polymerase I subunit* G* Enables RNA binding activity. Involved in transcription initiation at RNA polymerase I promoter. Located in cytosol; mitochondrion; and nuclear lumen. Part of RNA polymerase I complex. Implicated in multiple myeloma. [provided by Alliance of Genome Resources, Mar 2025]
ATP5IF1 Gene ATP synthase inhibitory factor subunit* 1* Enables several functions, including ATPase binding activity; angiostatin binding activity; and mitochondrial proton-transporting ATP synthase complex binding activity. Involved in several processes, including mitochondrial depolarization; negative regulation of endothelial cell proliferation; and positive regulation of metabolic process. Located in cell surface and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
NCBP3 Gene nuclear cap binding subunit* 3* Enables RNA 7-methylguanosine cap binding activity and mRNA binding activity. Involved in defense response to virus; mRNA export from nucleus; and snRNA export from nucleus. Located in cytoplasm and nuclear speck. Part of nuclear cap binding activity complex. [provided by Alliance of Genome Resources, Mar 2025]
ATP5F1B Gene ATP synthase F1 subunit* beta* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
ATP5PO Gene ATP synthase peripheral stalk subunit* OSCP* The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
ATP5F1A Gene ATP synthase F1 subunit* alpha* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
ATP5F1C Gene ATP synthase F1 subunit* gamma* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
ATP5PD Gene ATP synthase peripheral stalk subunit* d* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]
ATP5MJ Gene ATP synthase membrane subunit* j* Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
ATP5PF Gene ATP synthase peripheral stalk subunit* F6* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]
ATP5MK Gene ATP synthase membrane subunit* k* Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Mar 2025]
ATP5PB Gene ATP synthase peripheral stalk-membrane subunit* b* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
ATP5ME Gene ATP synthase membrane subunit* e* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
INTS13 Gene integrator complex subunit* 13* Involved in regulation of mitotic cell cycle. Acts upstream of or within centrosome localization; mitotic spindle organization; and protein localization to nuclear envelope. Located in cytoplasm and nuclear body. Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
INTS11 Gene integrator complex subunit* 11* The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
ATP5F1D Gene ATP synthase F1 subunit* delta* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
PRORP Gene protein only RNase P catalytic subunit Enables ribonuclease P activity. Involved in mitochondrial tRNA 5'-end processing. Located in mitochondrion and nucleoplasm. Part of mitochondrial ribonuclease P complex. Implicated in combined oxidative phosphorylation deficiency 54. [provided by Alliance of Genome Resources, Mar 2025]
QTRT2 Gene queuine tRNA-ribosyltransferase accessory subunit* 2* This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5'-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
INTS14 Gene integrator complex subunit* 14* Predicted to be involved in snRNA 3'-end processing. Located in cytoplasm. Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
ABRAXAS2 Gene abraxas 2, BRISC complex subunit Enables microtubule binding activity and polyubiquitin modification-dependent protein binding activity. Involved in nuclear chromosome segregation; protein K63-linked deubiquitination; and response to ischemia. Located in cytoplasm; microtubule cytoskeleton; and midbody. Part of BRISC complex. [provided by Alliance of Genome Resources, Mar 2025]
CNOT9 Gene CCR4-NOT transcription complex subunit* 9* This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
ELP1 Gene elongator acetyltransferase complex subunit* 1* The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
POLR1F Gene RNA polymerase I subunit* F* Predicted to be involved in transcription elongation by RNA polymerase I. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Mar 2025]
ATP5MG Gene ATP synthase membrane subunit* g* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
WASHC3 Gene WASH complex subunit* 3* Predicted to be involved in actin filament polymerization and exocytosis. Part of WASH complex. [provided by Alliance of Genome Resources, Mar 2025]
RAMAC Gene RNA guanine-7 methyltransferase activating subunit Enables RNA binding activity and enzyme activator activity. Involved in 7-methylguanosine mRNA capping. Located in nucleus. Part of mRNA cap methyltransferase RNMT:RAMAC complex and mRNA capping enzyme complex. [provided by Alliance of Genome Resources, Mar 2025]
BORCS5 Gene BLOC-1 related complex subunit* 5* Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma. [provided by Alliance of Genome Resources, Mar 2025]
SRPRA Gene SRP receptor subunit* alpha* The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
ATP5MF Gene ATP synthase membrane subunit* f* Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
PSME3IP1 Gene proteasome activator subunit* 3 interacting protein 1* Involved in negative regulation of proteasomal protein catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
MCUB Gene mitochondrial calcium uniporter dominant negative subunit* beta* Enables calcium channel inhibitor activity. Involved in negative regulation of calcium import into the mitochondrion. Located in mitochondrial inner membrane and nucleoplasm. Part of uniplex complex. [provided by Alliance of Genome Resources, Mar 2025]
WASHC2A Gene WASH complex subunit* 2A* Predicted to enable phosphatidylinositol phosphate binding activity and retromer complex binding activity. Involved in protein localization to endosome. Located in cytosol and nucleolus. [provided by Alliance of Genome Resources, Mar 2025]
WASHC4 Gene WASH complex subunit* 4* This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
COPS9 Gene COP9 signalosome subunit* 9* Involved in several processes, including cellular response to UV; cytoplasmic sequestering of protein; and negative regulation of protein neddylation. Located in chromatin; cytoplasm; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]
PPP4R3B Gene protein phosphatase 4 regulatory subunit* 3B* Predicted to enable protein phosphatase activator activity. Involved in regulation of double-strand break repair. Located in centrosome and nuclear speck. Part of chromatin and protein phosphatase 4 complex. [provided by Alliance of Genome Resources, Mar 2025]
BORCS8 Gene BLOC-1 related complex subunit* 8* Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Mar 2025]
ODAD1 Gene outer dynein arm docking complex subunit* 1* This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]
GON7 Gene GON7 subunit* of KEOPS complex* Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Mar 2025]
PPP4R3A Gene protein phosphatase 4 regulatory subunit* 3A* Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damage response and regulation of double-strand break repair. Predicted to act upstream of or within positive regulation of gluconeogenesis and protein dephosphorylation. Located in cytosol and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]
POLR1H Gene RNA polymerase I subunit* H* This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
CPLANE1 Gene ciliogenesis and planar polarity effector complex subunit* 1* The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
CASTOR2 Gene cytosolic arginine sensor for mTORC1 subunit* 2* Enables identical protein binding activity. Involved in negative regulation of TORC1 signaling. Located in GATOR2 complex and cytosol. [provided by Alliance of Genome Resources, Mar 2025]
CBARP Gene CACN subunit* beta associated regulatory protein* Predicted to enable transmembrane transporter binding activity. Predicted to be involved in negative regulation of calcium ion-dependent exocytosis and negative regulation of voltage-gated calcium channel activity. Predicted to be located in growth cone and secretory granule. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
NAA80 Gene N-alpha-acetyltransferase 80, NatH catalytic subunit This gene encodes a member of the N-acetyltransferase family. N-acetyltransferases modify proteins by transferring acetyl groups from acetyl CoA to the N-termini of protein substrates. The encoded protein is a cytoplasmic N-acetyltransferase with a substrate specificity for proteins with an N-terminal methionine. This gene is located in the tumor suppressor gene region on chromosome 3p21.3 and the encoded protein may play a role in cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed. This gene overlaps and is on the same strand as hyaluronoglucosaminidase 3, and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
STN1 Gene STN1 subunit* of CST complex* OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
WASHC2C Gene WASH complex subunit* 2C* Enables phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and retromer complex binding activity. Involved in several processes, including endosomal transport; negative regulation of barbed-end actin filament capping; and protein localization to endosome. Located in cytosol; early endosome; and nucleolus. Part of WASH complex. [provided by Alliance of Genome Resources, Mar 2025]
ATP5F1E Gene ATP synthase F1 subunit* epsilon* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]
ATPSCKMT Gene ATP synthase c subunit* lysine N-methyltransferase* Enables protein-lysine N-methyltransferase activity. Involved in several processes, including peptidyl-lysine trimethylation; positive regulation of proton-transporting ATP synthase activity, rotational mechanism; and positive regulation of sensory perception of pain. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Mar 2025]
MICOS10 Gene mitochondrial contact site and cristae organizing system subunit* 10* Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025]
SHLD2 Gene shieldin complex subunit* 2* Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in actin cytoskeleton; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]
ABRAXAS1 Gene abraxas 1, BRCA1 A complex subunit This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
MICOS13 Gene mitochondrial contact site and cristae organizing system subunit* 13* Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025]
CSNKA2IP Gene casein kinase 2 subunit* alpha' interacting protein* Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]
SKIC2 Gene SKI2 subunit* of superkiller complex* DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
GUCY1A1 Gene guanylate cyclase 1 soluble subunit* alpha 1* Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
SKIC8 Gene SKI8 subunit* of superkiller complex* WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
GUCY1B1 Gene guanylate cyclase 1 soluble subunit* beta 1* This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
ATP5MC1 Gene ATP synthase membrane subunit* c locus 1* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
ATP5MC2 Gene ATP synthase membrane subunit* c locus 2* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]
SKIC3 Gene SKI3 subunit* of superkiller complex* This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
ATP5MC3 Gene ATP synthase membrane subunit* c locus 3* This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]
SEM1 Gene SEM1 26S proteasome subunit The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
FHIP2B Gene FHF complex subunit* HOOK interacting protein 2B*
G6PC1 Gene glucose-6-phosphatase catalytic subunit* 1* Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
INTS15 Gene integrator complex subunit* 15* Part of integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]
TRAPPC14 Gene trafficking protein particle complex subunit* 14* Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly. [provided by Alliance of Genome Resources, Mar 2025]
HYCC2 Gene hyccin PI4KA lipid kinase complex subunit* 2* Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and protein localization to plasma membrane. Predicted to be located in cytosol and membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
VPS50 Gene VPS50 subunit* of EARP/GARPII complex* Enables SNARE binding activity. Acts upstream of or within endocytic recycling. Located in recycling endosome. Part of EARP complex. [provided by Alliance of Genome Resources, Mar 2025]
ND6 Gene NADH dehydrogenase subunit* 6* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominant 2B. [provided by Alliance of Genome Resources, Mar 2025]
ATP6 Gene ATP synthase F0 subunit* 6* Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Mar 2025]
ND5 Gene NADH dehydrogenase subunit* 5* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]
INTS6L Gene integrator complex subunit* 6 like* Predicted to be involved in snRNA 3'-end processing. Predicted to be part of integrator complex. [provided by Alliance of Genome Resources, Mar 2025]
ETFBKMT Gene electron transfer flavoprotein subunit* beta lysine methyltransferase* Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase. Located in mitochondrial matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]
ODAD4 Gene outer dynein arm docking complex subunit* 4* This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
CATSPERE Gene catsper channel auxiliary subunit* epsilon* Predicted to be involved in flagellated sperm motility and sperm capacitation. Located in sperm principal piece. [provided by Alliance of Genome Resources, Mar 2025]
ATP8 Gene ATP synthase F0 subunit* 8* Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]
ND4 Gene NADH dehydrogenase subunit* 4* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]
WASHC1 Gene WASH complex subunit* 1* Enables alpha-tubulin binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including Arp2/3 complex-mediated actin nucleation; endosomal transport; and positive regulation of pseudopodium assembly. Located in several cellular components, including endosome; exocyst; and lamellipodium. Part of WASH complex. [provided by Alliance of Genome Resources, Mar 2025]
RIMOC1 Gene RAB7A interacting MON1-CCZ1 complex subunit* 1* Involved in mitophagy. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
KICS2 Gene KICSTOR subunit* 2* Involved in several processes, including cellular response to amino acid starvation; cellular response to glucose starvation; and negative regulation of TORC1 signaling. Located in intercellular bridge and lysosome. Part of KICSTOR complex. [provided by Alliance of Genome Resources, Mar 2025]
FHIP1B Gene FHF complex subunit* HOOK interacting protein 1B* The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]
ND2 Gene NADH dehydrogenase subunit* 2* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]
ND3 Gene NADH dehydrogenase subunit* 3* Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Mar 2025]
CPLANE2 Gene ciliogenesis and planar polarity effector complex subunit* 2* Predicted to enable GTP binding activity. Predicted to be involved in cilium assembly; protein localization; and regulation of vesicle-mediated transport. Predicted to act upstream of or within several processes, including axoneme assembly; endocardial cushion fusion; and regulation of smoothened signaling pathway. Located in centriole; ciliary basal body; and ciliary transition zone. [provided by Alliance of Genome Resources, Mar 2025]
ND4L Gene NADH dehydrogenase subunit* 4L* Enables NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy and diabetes mellitus. [provided by Alliance of Genome Resources, Mar 2025]
FHIP1A Gene FHF complex subunit* HOOK interacting protein 1A* Involved in protein localization to perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]
SHLD1 Gene shieldin complex subunit* 1* Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]
CASTOR1 Gene cytosolic arginine sensor for mTORC1 subunit* 1* Enables several functions, including arginine binding activity; identical protein binding activity; and protein sequestering activity. Involved in cellular response to L-arginine; cellular response to amino acid starvation; and regulation of TORC1 signaling. Located in GATOR2 complex and cytosol. [provided by Alliance of Genome Resources, Mar 2025]
HYCC1 Gene hyccin PI4KA lipid kinase complex subunit* 1* The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
FHIP2A Gene FHF complex subunit* HOOK interacting protein 2A*
CGB3 Gene chorionic gonadotropin subunit* beta 3* This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]
ODAD2 Gene outer dynein arm docking complex subunit* 2* The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
ATP5MGL Gene ATP synthase membrane subunit* g like* Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
CATSPERZ Gene catsper channel auxiliary subunit* zeta* Predicted to be involved in flagellated sperm motility; male meiotic nuclear division; and sperm capacitation. Located in cytoplasm and sperm principal piece. [provided by Alliance of Genome Resources, Mar 2025]
ATP5F1EP2 Gene ATP synthase F1 subunit* epsilon pseudogene 2* Predicted to enable hydrolase activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]
ODAD3 Gene outer dynein arm docking complex subunit* 3* This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PPP4R3C Gene protein phosphatase 4 regulatory subunit* 3C* Predicted to enable protein phosphatase activator activity. Predicted to be involved in DNA damage response and regulation of double-strand break repair. Predicted to be located in nucleus. Predicted to be part of protein phosphatase 4 complex. Predicted to be active in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]
GNG5B Gene G protein subunit* gamma 5B* Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Mar 2025]
RAMACL Gene RNA guanine-7 methyltransferase activating subunit* like* Predicted to enable RNA binding activity. Predicted to be involved in RNA 5'-cap (guanine-N7)-methylation. Predicted to be located in nucleus. Predicted to be part of mRNA capping enzyme complex. [provided by Alliance of Genome Resources, Mar 2025]
SHLD3 Gene shieldin complex subunit* 3* Involved in negative regulation of double-strand break repair via homologous recombination; positive regulation of double-strand break repair via nonhomologous end joining; and positive regulation of isotype switching. Located in nucleolus; nucleoplasm; and site of double-strand break. [provided by Alliance of Genome Resources, Mar 2025]
SHLD2P3 Gene shieldin complex subunit* 2 pseudogene 3*
KPNA2P3 Gene karyopherin subunit* alpha 2 pseudogene 3*
ATP5F1AP3 Gene ATP synthase F1 subunit* alpha pseudogene 3*
DRC3 Gene dynein regulatory complex subunit* 3* Located in axoneme. [provided by Alliance of Genome Resources, Mar 2025]
FERRY3 Gene FERRY endosomal RAB5 effector complex subunit* 3* This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
GNG14 Gene G protein subunit* gamma 14* Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Mar 2025]
MSL3B Gene MSL complex subunit* 3B* Predicted to be involved in chromatin organization and regulation of DNA-templated transcription. Predicted to be located in nucleus. Predicted to be part of MSL complex and NuA4 histone acetyltransferase complex. [provided by Alliance of Genome Resources, Mar 2025]
DRC5 Gene dynein regulatory complex subunit* 5* Predicted to be involved in flagellated sperm motility. Predicted to be located in sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]
DRC2 Gene dynein regulatory complex subunit* 2*
DRC9 Gene dynein regulatory complex subunit* 9* Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Mar 2025]
DRC4 Gene dynein regulatory complex subunit* 4*
DRC10 Gene dynein regulatory complex subunit* 10* Located in ciliary basal body. [provided by Alliance of Genome Resources, Mar 2025]
RMP64 Gene ribonuclease MRP subunit* p64* Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3. [provided by Alliance of Genome Resources, Mar 2025]
RMP24 Gene ribonuclease MRP subunit* p24*
DRC8 Gene dynein regulatory complex subunit* 8*
DRC11 Gene dynein regulatory complex subunit* 11*
CSNK2A2IP Gene casein kinase 2 subunit* alpha' interacting protein* Predicted to be located in male germ cell nucleus. [provided by Alliance of Genome Resources, Mar 2025]
DRC11L Gene dynein regulatory complex subunit* 11 like* Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Predicted to be involved in microtubule cytoskeleton organization. [provided by Alliance of Genome Resources, Mar 2025]
CATSPERH Gene catsper channel auxiliary subunit* eta*
CATSPERQ Gene catsper channel auxiliary subunit* theta*
CATSPERT Gene catsper channel auxiliary subunit* tau*
COXFA4 Gene cytochrome c oxidase associated subunit* FA4*
COXFA4L2 Gene cytochrome c oxidase hypoxia associated subunit* FA4L2*
COXFA4L3 Gene cytochrome c oxidase associated subunit* FA4L3*
LOC107986346 Gene mitochondrial import receptor subunit* TOM7 homolog*
LOC128966601 Gene pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial-like
CDC50A Gene cell division cycle 50 P4-ATPase accessory subunit* A* Enables aminophospholipid flippase activity and structural molecule activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum and plasma membrane. Part of early endosome membrane; late endosome membrane; and phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Mar 2025]
TSLIG1 Gene tRNA splicing ligase complex subunit* 1* Predicted to enable metal ion binding activity. Involved in tRNA splicing, via endonucleolytic cleavage and ligation. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
TSLIG3B Gene tRNA splicing ligase complex subunit* 3B* Enables identical protein binding activity and protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Located in cytoplasm and nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
TSLIG2 Gene tRNA splicing ligase complex subunit* 2* Predicted to be involved in tRNA splicing, via endonucleolytic cleavage and ligation. Located in nucleoplasm. Part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
CNOT12 Gene CCR4-NOT transcription complex subunit* 12* Enables ankyrin repeat binding activity and enzyme binding activity. Involved in cellular response to ionizing radiation; double-strand break repair; and positive regulation of protein phosphorylation. Located in several cellular components, including adherens junction; heterochromatin; and nucleus. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]
TSLIG3C Gene tRNA splicing ligase complex subunit* 3C* Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
CDC50B Gene cell division cycle 50 P4-ATPase accessory subunit* B* Enables aminophospholipid flippase activity. Involved in aminophospholipid transport and positive regulation of protein exit from endoplasmic reticulum. Part of phospholipid-translocating ATPase complex and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]
TSLIG3A Gene tRNA splicing ligase complex subunit* 3A* Enables protein methyltransferase activity. Involved in positive regulation of cell population proliferation; positive regulation of gene expression; and protein methylation. Predicted to be part of tRNA-splicing ligase complex. [provided by Alliance of Genome Resources, Mar 2025]
LOC107984365 Gene cytochrome c oxidase subunit* NDUFA4-like*
Calpain small subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain small subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
[Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷ <small>Dsmall>-Tic⁹]OT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷ <small>Dsmall>-Tic⁹]OT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
N-methyl-Phe-Lys-Pro-<small>Dsmall>-Cha-Cha-<small>Dsmall>-Arg-CO₂H Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-methyl-Phe-Lys-Pro-<small>Dsmall>-Cha-Cha-<small>Dsmall>-Arg-CO₂H ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷]OT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷]OT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷ Aib⁹]OT Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Mpa¹ <small>Dsmall>-Tyr(Et)² <small>Dsmall>-Tic⁷ Aib⁹]OT ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
N-methyl-Phe-Lys-Pro-<small>Dsmall>-Cha-Trp-<small>Dsmall>-Arg-CO₂H Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the N-methyl-Phe-Lys-Pro-<small>Dsmall>-Cha-Trp-<small>Dsmall>-Arg-CO₂H ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
Peptidase C2, calpain, large subunit, domain III Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C2, calpain, large subunit, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.
carcinoma, non-small-cell lung; lung neoplasms; neoplasm of lung ; radiation pneumonitis; small cell carcinoma of lung; small cell lung carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease carcinoma, non-small-cell lung; lung neoplasms; neoplasm of lung ; radiation pneumonitis; small cell carcinoma of lung; small cell lung carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
calpain inhibitor III Gene Set From CTD Gene-Chemical Interactions genes/proteins interacting with the chemical calpain inhibitor III from the curated CTD Gene-Chemical Interactions dataset.
calpain Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term calpain in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
Peptidase C2, calpain, domain III Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C2, calpain, domain III protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-13 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase C2, calpain family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C2, calpain family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase C2, calpain, catalytic domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C2, calpain, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calpain-9 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calpain-9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Absent Muscle Fiber Calpain-3 Gene Set From DisGeNET Gene-Phenotype Associations genes associated with the phenotype Absent Muscle Fiber Calpain-3 in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.
Calpain complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Calpain complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Calpain complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Calpain complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
T-cell surface glycoprotein CD3 zeta/eta subunit/High affinity IgE receptor gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-cell surface glycoprotein CD3 zeta/eta subunit/High affinity IgE receptor gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit 1/F420H2 oxidoreductase subunit H Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit 1/F420H2 oxidoreductase subunit H protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase archaeal subunit P/eukaryotic subunit RPABC4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase archaeal subunit P/eukaryotic subunit RPABC4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Splicing factor 3B subunit 5/RDS3 complex subunit 10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Splicing factor 3B subunit 5/RDS3 complex subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin subunit 1/Condensin-2 complex subunit D3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin subunit 1/Condensin-2 complex subunit D3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit VIII/photosystem I reaction centre subunit IX protein domain from the InterPro Predicted Protein Domain Annotations dataset.
mitochondrial small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
preribosome, small subunit precursor Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the preribosome, small subunit precursor cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
organellar small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the organellar small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
cytosolic small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the cytosolic small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
small-subunit processome Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the small-subunit processome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
mitochondrial small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
preribosome, small subunit precursor Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the preribosome, small subunit precursor cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
chloroplast small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the chloroplast small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
organellar small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the organellar small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
cytosolic small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cytosolic small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
plastid small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the plastid small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
small-subunit processome Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the small-subunit processome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
ribosomal small subunit biogenesis Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal small subunit biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2015 dataset.
ribosomal small subunit assembly Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal small subunit assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
mitochondrial small ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the mitochondrial small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
preribosome, small subunit precursor Gene Set From GO Cellular Component Annotations 2015 proteins localized to the preribosome, small subunit precursor cellular component from the curated GO Cellular Component Annotations 2015 dataset.
organellar small ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the organellar small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
small ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
cytosolic small ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the cytosolic small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
small-subunit processome Gene Set From GO Cellular Component Annotations 2015 proteins localized to the small-subunit processome cellular component from the curated GO Cellular Component Annotations 2015 dataset.
ribosomal small subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the ribosomal small subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
small ribosomal subunit rrna binding Gene Set From GO Molecular Function Annotations 2015 genes performing the small ribosomal subunit rrna binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Large neutral amino acids transporter small subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Large neutral amino acids transporter small subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small-subunit processome, Utp21 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small-subunit processome, Utp21 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
U2 auxiliary factor small subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the U2 auxiliary factor small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
U3 small nucleolar ribonucleoprotein complex, subunit Mpp10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the U3 small nucleolar ribonucleoprotein complex, subunit Mpp10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small nuclear RNA activating complex subunit 2-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small nuclear RNA activating complex subunit 2-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small nuclear RNA activating complex (SNAPc), subunit SNAP43 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small nuclear RNA activating complex (SNAPc), subunit SNAP43 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribosomal RNA small subunit methyltransferase H Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribosomal RNA small subunit methyltransferase H protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase delta/II small subunit family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase delta/II small subunit family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small-subunit processome, Utp13 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small-subunit processome, Utp13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small-subunit processome, Utp12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small-subunit processome, Utp12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small-subunit processome, Utp11 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small-subunit processome, Utp11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small-subunit processome, Utp14 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small-subunit processome, Utp14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthase, small subunit N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthase, small subunit N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonucleotide reductase small subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Iron hydrogenase, small subunit-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Iron hydrogenase, small subunit-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Xanthine dehydrogenase, small subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Xanthine dehydrogenase, small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, CybS Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, CybS protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aconitase A/isopropylmalate dehydratase small subunit, swivel Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aconitase A/isopropylmalate dehydratase small subunit, swivel protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Small subunit of serine palmitoyltransferase-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Small subunit of serine palmitoyltransferase-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA primase, small subunit, eukaryotic/archaeal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA primase, small subunit, eukaryotic/archaeal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA primase, small subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA primase, small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthase, small subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthase, small subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ribosomal small subunit biogenesis Gene Set From GO Biological Process Annotations 2023 genes participating in the ribosomal small subunit biogenesis biological process from the curated GO Biological Process Annotations 2023 dataset.
ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2023 genes participating in the ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2023 dataset.
ribosomal small subunit assembly Gene Set From GO Biological Process Annotations 2023 genes participating in the ribosomal small subunit assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
small-subunit processome assembly Gene Set From GO Biological Process Annotations 2023 genes participating in the small-subunit processome assembly biological process from the curated GO Biological Process Annotations 2023 dataset.
positive regulation of ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2023 genes participating in the positive regulation of ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2023 dataset.
regulation of ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2023 genes participating in the regulation of ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2023 dataset.
small-subunit processome Gene Set From GO Cellular Component Annotations 2023 proteins localized to the small-subunit processome cellular component from the curated GO Cellular Component Annotations 2023 dataset.
preribosome, small subunit precursor Gene Set From GO Cellular Component Annotations 2023 proteins localized to the preribosome, small subunit precursor cellular component from the curated GO Cellular Component Annotations 2023 dataset.
cytosolic small ribosomal subunit Gene Set From GO Cellular Component Annotations 2023 proteins localized to the cytosolic small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2023 dataset.
small ribosomal subunit Gene Set From GO Cellular Component Annotations 2023 proteins localized to the small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2023 dataset.
ribosomal small subunit binding Gene Set From GO Molecular Function Annotations 2023 genes performing the ribosomal small subunit binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
small ribosomal subunit rRNA binding Gene Set From GO Molecular Function Annotations 2023 genes performing the small ribosomal subunit rRNA binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.
ribosomal small subunit biogenesis Gene Set From GO Biological Process Annotations 2025 genes participating in the ribosomal small subunit biogenesis biological process from the curated GO Biological Process Annotations 2025 dataset.
ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2025 genes participating in the ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2025 dataset.
ribosomal small subunit assembly Gene Set From GO Biological Process Annotations 2025 genes participating in the ribosomal small subunit assembly biological process from the curated GO Biological Process Annotations 2025 dataset.
small-subunit processome assembly Gene Set From GO Biological Process Annotations 2025 genes participating in the small-subunit processome assembly biological process from the curated GO Biological Process Annotations 2025 dataset.
mitochondrial small ribosomal subunit assembly Gene Set From GO Biological Process Annotations 2025 genes participating in the mitochondrial small ribosomal subunit assembly biological process from the curated GO Biological Process Annotations 2025 dataset.
positive regulation of ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2025 genes participating in the positive regulation of ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2025 dataset.
cytosolic small ribosomal subunit assembly Gene Set From GO Biological Process Annotations 2025 genes participating in the cytosolic small ribosomal subunit assembly biological process from the curated GO Biological Process Annotations 2025 dataset.
regulation of ribosomal small subunit export from nucleus Gene Set From GO Biological Process Annotations 2025 genes participating in the regulation of ribosomal small subunit export from nucleus biological process from the curated GO Biological Process Annotations 2025 dataset.
small-subunit processome Gene Set From GO Cellular Component Annotations 2025 proteins localized to the small-subunit processome cellular component from the curated GO Cellular Component Annotations 2025 dataset.
cytosolic small ribosomal subunit Gene Set From GO Cellular Component Annotations 2025 proteins localized to the cytosolic small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2025 dataset.
preribosome, small subunit precursor Gene Set From GO Cellular Component Annotations 2025 proteins localized to the preribosome, small subunit precursor cellular component from the curated GO Cellular Component Annotations 2025 dataset.
small ribosomal subunit Gene Set From GO Cellular Component Annotations 2025 proteins localized to the small ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2025 dataset.
ribosomal small subunit binding Gene Set From GO Molecular Function Annotations 2025 genes performing the ribosomal small subunit binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
small ribosomal subunit rRNA binding Gene Set From GO Molecular Function Annotations 2025 genes performing the small ribosomal subunit rRNA binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.
small-subunit processome Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the small-subunit processome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Cytosolic small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Cytosolic small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
preribosome, small subunit precursor Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the preribosome, small subunit precursor cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Organellar small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Organellar small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Mitochondrial small ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores 2025 proteins localized to the Mitochondrial small ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
Small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
preribosome, small subunit precursor Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the preribosome, small subunit precursor cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Cytosolic small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Cytosolic small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Mitochondrial small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Mitochondrial small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Organellar small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Organellar small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
small-subunit processome Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the small-subunit processome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Small ribosomal subunit processing complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Small ribosomal subunit processing complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Chloroplast small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Chloroplast small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Plastid small ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 proteins co-occuring with the Plastid small ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
Mitochondrial small ribosomal subunit Gene Set From CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Mitochondrial small ribosomal subunit assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
Mitochondrial small ribosomal subunit transport core Gene Set From CM4AI U2OS Cell Map Protein Localization Assemblies proteins comprising Mitochondrial small ribosomal subunit transport core assembly using integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease adenocarcinoma; carcinoma, large cell; carcinoma, small cell; carcinoma, squamous cell; lung neoplasms; neoplasm of lung ; small cell carcinoma of lung; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
paraneoplastic syndromes, nervous system; small cell carcinoma of lung; small cell lung carcinoma Gene Set From GAD Gene-Disease Associations genes associated with the disease paraneoplastic syndromes, nervous system; small cell carcinoma of lung; small cell lung carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
d(CH₂)₅[<small>Dsmall>-Ile² Val⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Ile² Val⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d[<small>Dsmall>-Phe²]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d[<small>Dsmall>-Phe²]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I]d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I]d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Phaa¹ <small>Dsmall>-Tyr² Val⁴ Arg⁶ Arg-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Phaa¹ <small>Dsmall>-Tyr² Val⁴ Arg⁶ Arg-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[<small>Dsmall>-Bpa⁵ Ile¹³]motilin (human) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [<small>Dsmall>-Bpa⁵ Ile¹³]motilin (human) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[tBaa¹ <small>Dsmall>-Tyr(Et)² Val⁴ Lys⁶ Arg-NH₂⁸ des-Gly⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [tBaa¹ <small>Dsmall>-Tyr(Et)² Val⁴ Lys⁶ Arg-NH₂⁸ des-Gly⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Ala-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Ala-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[His⁵ <small>Dsmall>-Tyr⁶]GnRH Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [His⁵ <small>Dsmall>-Tyr⁶]GnRH ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I]d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Val⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I]d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Val⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[<small>Lsmall>-Bpa⁵ Ile¹³]motilin (human) Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [<small>Lsmall>-Bpa⁵ Ile¹³]motilin (human) ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[des-Gly¹⁰ <small>Dsmall>-Ala⁶]GnRH N-ethylamide Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [des-Gly¹⁰ <small>Dsmall>-Ala⁶]GnRH N-ethylamide ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Phaa¹ <small>Dsmall>-Tyr(Et)² Val⁴ Lys⁶ Tyr-NH₂⁸ des-Gly⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Phaa¹ <small>Dsmall>-Tyr(Et)² Val⁴ Lys⁶ Tyr-NH₂⁸ des-Gly⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Sar <small>Dsmall>-Phe⁸ des-Arg⁹]bradykinin Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Sar <small>Dsmall>-Phe⁸ des-Arg⁹]bradykinin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d[<small>Dsmall>-Pal²]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d[<small>Dsmall>-Pal²]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Val⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Val⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Ala-NH₂]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the d(CH₂)₅[<small>Dsmall>-Ile² Ile⁴ Ala-NH₂]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Phaa¹ <small>Dsmall>-Tyr(Me)² Arg⁶ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Phaa¹ <small>Dsmall>-Tyr(Me)² Arg⁶ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I]d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Ile⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I]d(CH₂)₅[<small>Dsmall>-Tyr(Et)² Ile⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[<small>Dsmall>-Lys¹ des-Arg¹⁰]kallidin Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [<small>Dsmall>-Lys¹ des-Arg¹⁰]kallidin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I]d(CH₂)₅[<small>Dsmall>-Ile² Val⁴ Tyr-NH₂⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I]d(CH₂)₅[<small>Dsmall>-Ile² Val⁴ Tyr-NH₂⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
<small>Dsmall>-Lys⁰-[des-Arg¹⁰]kallidin Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the <small>Dsmall>-Lys⁰-[des-Arg¹⁰]kallidin ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[Phaa¹ <small>Dsmall>-Tyr(Et)² Lys⁶ des-Gly⁹]AVP Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [Phaa¹ <small>Dsmall>-Tyr(Et)² Lys⁶ des-Gly⁹]AVP ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
[¹²⁵I][des-Gly¹⁰ <small>Dsmall>-Ala⁶]GnRH N-ethylamide Gene Set From Guide to Pharmacology Chemical Ligands of Receptors receptors of the [¹²⁵I][des-Gly¹⁰ <small>Dsmall>-Ala⁶]GnRH N-ethylamide ligand (chemical) from the curated Guide to Pharmacology Chemical Ligands of Receptors dataset.
U1 small nuclear ribonucleoprotein A/U2 small nuclear ribonucleoprotein B'' Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the U1 small nuclear ribonucleoprotein A/U2 small nuclear ribonucleoprotein B'' protein domain from the InterPro Predicted Protein Domain Annotations dataset.
non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma Gene Set From PhosphoSitePlus Phosphosite-Disease Associations proteins associated with the disease non-small cell large cell lung carcinoma; non-small cell squamous cell lung carcinoma from the curated PhosphoSitePlus Phosphosite-Disease Associations dataset.
role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set From Biocarta Pathways proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.
Factor xiii, a subunit, deficiency of Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Acid-labile subunit deficiency Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
Factor xiii, b subunit, deficiency of Gene Set From ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
proteasome core complex, alpha-subunit complex Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the proteasome core complex, alpha-subunit complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
organellar large ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the organellar large ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
mitochondrial large ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the mitochondrial large ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
cytosolic large ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the cytosolic large ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
large ribosomal subunit Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the large ribosomal subunit cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
preribosome, large subunit precursor Gene Set From COMPARTMENTS Curated Protein Localization Evidence Scores proteins localized to the preribosome, large subunit precursor cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
cytosolic large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the cytosolic large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
chloroplast large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the chloroplast large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
organellar large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the organellar large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
virus tail, minor subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the virus tail, minor subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
mitochondrial large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the mitochondrial large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
g-protein beta/gamma-subunit complex Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the g-protein beta/gamma-subunit complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
viral capsid, major subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the viral capsid, major subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
virus tail, major subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the virus tail, major subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
plastid large ribosomal subunit Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the plastid large ribosomal subunit cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing Gene Set From COMPARTMENTS Text-mining Protein Localization Evidence Scores proteins co-occuring with the atp-binding cassette (abc) transporter complex, transmembrane substrate-binding subunit-containing cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex Gene Set From CORUM Protein Complexes proteins in the p130Cas-ER-alpha-cSrc-kinase- PI3-kinase p85-subunit complex protein complex from the CORUM Protein Complexes dataset.
CD19-Vav-PI 3-kinase (p85 subunit) complex Gene Set From CORUM Protein Complexes proteins in the CD19-Vav-PI 3-kinase (p85 subunit) complex protein complex from the CORUM Protein Complexes dataset.
Respiratory chain complex I (lambda subunit) mitochondrial Gene Set From CORUM Protein Complexes proteins in the Respiratory chain complex I (lambda subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.
Respiratory chain complex I (gamma subunit) mitochondrial Gene Set From CORUM Protein Complexes proteins in the Respiratory chain complex I (gamma subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.
Respiratory chain complex I (beta subunit) mitochondrial Gene Set From CORUM Protein Complexes proteins in the Respiratory chain complex I (beta subunit) mitochondrial protein complex from the CORUM Protein Complexes dataset.
40S ribosomal subunit, cytoplasmic Gene Set From CORUM Protein Complexes proteins in the 40S ribosomal subunit, cytoplasmic protein complex from the CORUM Protein Complexes dataset.
28S ribosomal subunit, mitochondrial Gene Set From CORUM Protein Complexes proteins in the 28S ribosomal subunit, mitochondrial protein complex from the CORUM Protein Complexes dataset.
IL-12 subunit p40 homodimer complex Gene Set From CORUM Protein Complexes proteins in the IL-12 subunit p40 homodimer complex protein complex from the CORUM Protein Complexes dataset.
39S ribosomal subunit, mitochondrial Gene Set From CORUM Protein Complexes proteins in the 39S ribosomal subunit, mitochondrial protein complex from the CORUM Protein Complexes dataset.
60S ribosomal subunit, cytoplasmic Gene Set From CORUM Protein Complexes proteins in the 60S ribosomal subunit, cytoplasmic protein complex from the CORUM Protein Complexes dataset.
Factor Xiii, A Subunit, Deficiency Of Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Factor Xiii, A Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.
Factor XIII, B Subunit, Deficiency Of Gene Set From CTD Gene-Disease Associations genes/proteins associated with the disease Factor XIII, B Subunit, Deficiency Of from the curated CTD Gene-Disease Associations dataset.
subunit Gene Set From GeneRIF Biological Term Annotations genes co-occuring with the biological term subunit in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
ribosomal large subunit biogenesis Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal large subunit biogenesis biological process from the curated GO Biological Process Annotations 2015 dataset.
protein-carbohydrate complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the protein-carbohydrate complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
ribosomal large subunit assembly Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal large subunit assembly biological process from the curated GO Biological Process Annotations 2015 dataset.
ribonucleoprotein complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the ribonucleoprotein complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
protein-lipid complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the protein-lipid complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
ribosomal subunit export from nucleus Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal subunit export from nucleus biological process from the curated GO Biological Process Annotations 2015 dataset.
protein complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the protein complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
macromolecular complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the macromolecular complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
ribosomal large subunit export from nucleus Gene Set From GO Biological Process Annotations 2015 genes participating in the ribosomal large subunit export from nucleus biological process from the curated GO Biological Process Annotations 2015 dataset.
protein-dna complex subunit organization Gene Set From GO Biological Process Annotations 2015 genes participating in the protein-dna complex subunit organization biological process from the curated GO Biological Process Annotations 2015 dataset.
proteasome core complex, alpha-subunit complex Gene Set From GO Cellular Component Annotations 2015 proteins localized to the proteasome core complex, alpha-subunit complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.
ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
organellar large ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the organellar large ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
mitochondrial large ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the mitochondrial large ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
preribosome, large subunit precursor Gene Set From GO Cellular Component Annotations 2015 proteins localized to the preribosome, large subunit precursor cellular component from the curated GO Cellular Component Annotations 2015 dataset.
large ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the large ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
cytosolic large ribosomal subunit Gene Set From GO Cellular Component Annotations 2015 proteins localized to the cytosolic large ribosomal subunit cellular component from the curated GO Cellular Component Annotations 2015 dataset.
ribosomal large subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the ribosomal large subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
protein kinase a regulatory subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the protein kinase a regulatory subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
phosphatidylinositol 3-kinase catalytic subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the phosphatidylinositol 3-kinase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
g-protein beta-subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the g-protein beta-subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
g-protein gamma-subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the g-protein gamma-subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
interleukin-12 beta subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the interleukin-12 beta subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
glutamate-cysteine ligase catalytic subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the glutamate-cysteine ligase catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
g-protein alpha-subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the g-protein alpha-subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
phosphatidylinositol 3-kinase regulatory subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the phosphatidylinositol 3-kinase regulatory subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
protein kinase a catalytic subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the protein kinase a catalytic subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
g-protein beta/gamma-subunit complex binding Gene Set From GO Molecular Function Annotations 2015 genes performing the g-protein beta/gamma-subunit complex binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
interleukin-12 alpha subunit binding Gene Set From GO Molecular Function Annotations 2015 genes performing the interleukin-12 alpha subunit binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.
Condensin complex, subunit 1, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin complex, subunit 1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import inner membrane translocase subunit Tim21 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim21 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP protein, subunit Pop5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP protein, subunit Pop5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 4 core regulatory subunit R2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 4 core regulatory subunit R2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1, regulatory subunit 16A/B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1, regulatory subunit 16A/B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GPI transamidase subunit PIG-U Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GPI transamidase subunit PIG-U protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:quinone oxidoreductase/Mrp antiporter, membrane subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:quinone oxidoreductase/Mrp antiporter, membrane subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
High affinity immunoglobulin epsilon receptor subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the High affinity immunoglobulin epsilon receptor subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Replication factor C subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Replication factor C subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthase, large subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthase, large subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP protein subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP protein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IIA, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IIA, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor IIA, alpha/beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor IIA, alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome C oxidase subunit II, transmembrane domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome C oxidase subunit II, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex subunit FAM21 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex subunit FAM21 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH ubiquinone oxidoreductase, F subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH ubiquinone oxidoreductase, F subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex, subunit CDC26 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex, subunit CDC26 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CD8 alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CD8 alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Spo11/DNA topoisomerase VI, subunit A, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Spo11/DNA topoisomerase VI, subunit A, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer beta subunit (COPB1) Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer beta subunit (COPB1) protein domain from the InterPro Predicted Protein Domain Annotations dataset.
KAT8 regulatory NSL complex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the KAT8 regulatory NSL complex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, delta/epsilon subunit, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, delta/epsilon subunit, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-secretase subunit Aph-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-secretase subunit Aph-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial ATP synthase subunit g, animal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial ATP synthase subunit g, animal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-8 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-8 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med25, PTOV activation and synapsin 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med25, PTOV activation and synapsin 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-splicing endonuclease, subunit Sen54 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-splicing endonuclease, subunit Sen54 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, T-type, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, T-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribosomal RNA large subunit methyltransferase E Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribosomal RNA large subunit methyltransferase E protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import inner membrane translocase subunit Tim44 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim44 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ciliary BBSome complex subunit 2, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ciliary BBSome complex subunit 2, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNAB Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNAB protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIIH p62 subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIIH p62 subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1 regulatory subunit 36 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1 regulatory subunit 36 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit 6C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit 6C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit G, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit G, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G protein alpha subunit, helical insertion Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G protein alpha subunit, helical insertion protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Molybdopterin synthase catalytic subunit, eukaryotes Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Molybdopterin synthase catalytic subunit, eukaryotes protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase subunit RPABC4/transcription elongation factor Spt4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase subunit RPABC4/transcription elongation factor Spt4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med13, N-terminal, metazoa/fungi Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med13, N-terminal, metazoa/fungi protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5-hydroxytryptamine 3 receptor, B subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5-hydroxytryptamine 3 receptor, B subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y protein domain from the InterPro Predicted Protein Domain Annotations dataset.
COP9 signalosome complex subunit 7b Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the COP9 signalosome complex subunit 7b protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-1, 2,4 complex subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-1, 2,4 complex subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA topoisomerase, type IIA, subunit A/C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA topoisomerase, type IIA, subunit A/C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor TFIID subunit 1, domain of unknown function Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor TFIID subunit 1, domain of unknown function protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Katanin p60 subunit A-like 1, chordates Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Katanin p60 subunit A-like 1, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, gamma 1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, gamma 1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Inhibin, alpha subunit subgroup Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, alpha subunit subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cation channel sperm-associated protein subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cation channel sperm-associated protein subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Golgi SNAP receptor complex, subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Golgi SNAP receptor complex, subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonucleotide reductase R1 subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase R1 subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Chromatin assembly factor 1 subunit A, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Chromatin assembly factor 1 subunit A, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome B-type subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome B-type subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nuclear condensin complex subunit 3, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear condensin complex subunit 3, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, B subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, B subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial degradasome RNA helicase subunit, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial degradasome RNA helicase subunit, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase subunit RPB10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase subunit RPB10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase epsilon, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase epsilon, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, subunit H/Rpb5 C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, subunit H/Rpb5 C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADPH oxidase subunit p47Phox, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADPH oxidase subunit p47Phox, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP54 subunit, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP54 subunit, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit WBP1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit WBP1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, iron-sulphur subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, iron-sulphur subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Clathrin adaptor, mu subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Clathrin adaptor, mu subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome, regulatory subunit Rpn7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome, regulatory subunit Rpn7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 51kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 51kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor TFIID, subunit 8, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor TFIID, subunit 8, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor TFIIE alpha subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor TFIIE alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase subunit B14.5a Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase subunit B14.5a protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dolichol-phosphate mannosyltransferase subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dolichol-phosphate mannosyltransferase subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-ubiquinone reductase complex 1 MLRQ subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone reductase complex 1 MLRQ subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein kinase A anchor protein, RI-RII subunit-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein kinase A anchor protein, RI-RII subunit-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, alpha-1C subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1C subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, M/15kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, M/15kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
INO80 complex subunit E Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the INO80 complex subunit E protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Guanine nucleotide binding protein (G-protein), alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanine nucleotide binding protein (G-protein), alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 1A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 1A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 1B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 1B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor IIIB subunit Brf1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor IIIB subunit Brf1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
KAT8 regulatory NSL complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the KAT8 regulatory NSL complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Guanylate kinase/L-type calcium channel beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanylate kinase/L-type calcium channel beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prefoldin subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prefoldin subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prefoldin subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prefoldin subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
V-ATPase proteolipid subunit C, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the V-ATPase proteolipid subunit C, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit III domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit III domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit D Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit D protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med22 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med22 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med23 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med23 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med20 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med20 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med21 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med21 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med27 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med27 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med28 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med28 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta subunit, cytoplasmic domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta subunit, cytoplasmic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF complex subunit BAF60B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF complex subunit BAF60B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phenylalanyl-tRNA synthetase, class IIc, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med12, LCEWAV-domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med12, LCEWAV-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ciliary BBSome complex subunit 2, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ciliary BBSome complex subunit 2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium/potassium-transporting ATPase subunit beta, chordates Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium/potassium-transporting ATPase subunit beta, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dynactin subunit p22 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dynactin subunit p22 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome C oxidase, subunit VIIB, domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome C oxidase, subunit VIIB, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Kinetochore assembly subunit CENP-C, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Kinetochore assembly subunit CENP-C, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit C, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit C, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med8, fungi/metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med8, fungi/metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Casein kinase II, regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Casein kinase II, regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit NDUFB4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit NDUFB4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Adaptor protein complex AP-2, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptor protein complex AP-2, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, subunit H/Rpb5, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, subunit H/Rpb5, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase, flavoprotein subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcriptional activator NFYC/HAP5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcriptional activator NFYC/HAP5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-splicing endonuclease subunit Sen15 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-splicing endonuclease subunit Sen15 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CCR4-NOT complex, subunit 3/ 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CCR4-NOT complex, subunit 3/ 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor TFIIH subunit p52/Tfb2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor TFIIH subunit p52/Tfb2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribosomal RNA large subunit methyltransferase F-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribosomal RNA large subunit methyltransferase F-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Electron transfer flavoprotein, alpha subunit, C-terminal, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone deacetylase complex subunit SAP30/SAP30-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone deacetylase complex subunit SAP30/SAP30-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 30kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 30kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit IV Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit IV protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-splicing endonuclease, SEN34 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-splicing endonuclease, SEN34 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA fragmentation factor subunit alpha Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA fragmentation factor subunit alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 2, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 2, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
KAT8 regulatory NSL complex subunit 3/Testis-expressed sequence 30 protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the KAT8 regulatory NSL complex subunit 3/Testis-expressed sequence 30 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit I Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit I protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cyclin-dependent kinase, regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cyclin-dependent kinase, regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ThiamineS/Molybdopterin converting factor subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ThiamineS/Molybdopterin converting factor subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 15 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 15 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 11 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer, gamma subunit, appendage, Ig-like subdomain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer, gamma subunit, appendage, Ig-like subdomain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import inner membrane translocase subunit Tim10/Tim12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim10/Tim12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit I domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit I domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-3 complex subunit beta, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-3 complex subunit beta, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CCR4-NOT transcription complex subunit 8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CCR4-NOT transcription complex subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Thiouridylase, cytoplasmic, subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Thiouridylase, cytoplasmic, subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, gamma 3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, gamma 3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1/A1 complex, subunit E Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1/A1 complex, subunit E protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP72 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP72 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med12, catenin-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med12, catenin-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cleavage stimulation factor subunit 2, hinge domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cleavage stimulation factor subunit 2, hinge domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, T-type, alpha-1I subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, T-type, alpha-1I subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glucosidase 2 subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glucosidase 2 subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, NDUFB5/SGDH subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, B chain/subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, B chain/subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, OSCP/delta subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, OSCP/delta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
V-ATPase proteolipid subunit C-like domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the V-ATPase proteolipid subunit C-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NAD(P)H-quinone oxidoreductase subunit D/H Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NAD(P)H-quinone oxidoreductase subunit D/H protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-7 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-7 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RZZ complex, subunit Zw10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RZZ complex, subunit Zw10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, gamma subunit domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, gamma subunit domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 42kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 42kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
F-actin-capping protein subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the F-actin-capping protein subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP, p29 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP, p29 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein alpha subunit, group I Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group I protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein alpha subunit, group S Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group S protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein alpha subunit, group Q Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group Q protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation initiation factor 2, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 2, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-splicing endonuclease, subunit Sen54, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-splicing endonuclease, subunit Sen54, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, N-type, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, N-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome regulatory complex, non-ATPase subcomplex, Rpn1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome regulatory complex, non-ATPase subcomplex, Rpn1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, 14-18kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, 14-18kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP14 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP14 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase subunit, RPB6/omega Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase subunit, RPB6/omega protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TRAPP I complex, subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TRAPP I complex, subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit C, DCCD-binding site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit C, DCCD-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IID, 18kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IID, 18kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit A, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit A, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA topoisomerase, type IIA, subunit B, domain 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA topoisomerase, type IIA, subunit B, domain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor IIIC, subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor IIIC, subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glucosidase II beta subunit-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glucosidase II beta subunit-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase epsilon subunit B, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase epsilon subunit B, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphatidylinositol N-acetylglucosaminyltransferase, GPI19/PIG-P subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphatidylinositol N-acetylglucosaminyltransferase, GPI19/PIG-P subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation initiation factor 3, subunit 12, N-terminal, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 3, subunit 12, N-terminal, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Oligosaccharyl transferase complex, subunit OST3/OST6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Oligosaccharyl transferase complex, subunit OST3/OST6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, R-type, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, R-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SecY subunit domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SecY subunit domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 5-like protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 5-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone deacetylase complex, SAP18 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone deacetylase complex, SAP18 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase III, subunit Rpc31 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase III, subunit Rpc31 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit G Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit G protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP, subunit POP1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP, subunit POP1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit H Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit H protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit F Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit F protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit D Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit D protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 4, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 4, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone acetyltransferase type B, catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone acetyltransferase type B, catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, delta/epsilon subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, delta/epsilon subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATP synthase subunit s-like protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit s-like protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome non-ATPase regulatory subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome non-ATPase regulatory subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1 regulatory subunit 35, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1 regulatory subunit 35, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med29, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med29, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NatC N(alpha)-terminal acetyltransferase, Mak10 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NatC N(alpha)-terminal acetyltransferase, Mak10 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
FAM175 family, BRISC complex, Abro1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the FAM175 family, BRISC complex, Abro1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med18, metazoa/fungi Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med18, metazoa/fungi protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prolyl 4-hydroxylase alpha-subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prolyl 4-hydroxylase alpha-subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-7 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-7 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, zeta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, zeta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome subunit Rpn10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome subunit Rpn10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase subunit 5, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase subunit 5, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Clathrin adaptor, mu subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Clathrin adaptor, mu subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase/Fumarate reductase, transmembrane subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/Fumarate reductase, transmembrane subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase III subunit Rpc5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase III subunit Rpc5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial inner membrane translocase complex, subunit Tim23 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial inner membrane translocase complex, subunit Tim23 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-quinone oxidoreductase subunit E-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-quinone oxidoreductase subunit E-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 75kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase epsilon catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase epsilon catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor TFIID subunit 1, animal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor TFIID subunit 1, animal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Importin subunit beta-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Importin subunit beta-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cation channel sperm-associated protein, subunit gamma Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cation channel sperm-associated protein, subunit gamma protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Globular protein, non-globular alpha/beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Globular protein, non-globular alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP, subunit p20 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP, subunit p20 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease P/MRP, subunit p29 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease P/MRP, subunit p29 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IIA, gamma subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IIA, gamma subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor epsilon subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor epsilon subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-7 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-7 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit VIIc Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit VIIc protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-8 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-8 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex alpha/beta subunit, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex alpha/beta subunit, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med30, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med30, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphoinositide 3-kinase regulatory subunit 5/6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphoinositide 3-kinase regulatory subunit 5/6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase delta, subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase delta, subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit VIa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit VIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 6 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 6 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone deacetylase complex subunit SAP30, Sin3 binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone deacetylase complex subunit SAP30, Sin3 binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase, cytochrome b556 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase, cytochrome b556 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 4 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 4 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel,T-type, alpha-1G subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel,T-type, alpha-1G subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ETC complex I subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ETC complex I subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med24, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med24, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
INO80 complex subunit B-like conserved region Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the INO80 complex subunit B-like conserved region protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Fatty acid oxidation complex, alpha subunit, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Fatty acid oxidation complex, alpha subunit, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, gamma subunit conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, gamma subunit conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit III, 4-helical bundle Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit III, 4-helical bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome b-c1 complex subunit 10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b-c1 complex subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-4 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-4 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor TFIIE, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor TFIIE, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med25, von Willebrand factor type A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med25, von Willebrand factor type A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Rab3-GAP regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Rab3-GAP regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATP-dependent Clp protease proteolytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP-dependent Clp protease proteolytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, C subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, C subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit Va/VI Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit Va/VI protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit 1, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit 1, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Archaeal RpoK/eukaryotic RPB6 RNA polymerase subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Archaeal RpoK/eukaryotic RPB6 RNA polymerase subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase III subunit RPC1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase III subunit RPC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase III subunit RPC4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase III subunit RPC4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5'-AMP-activated protein kinase subunit beta-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5'-AMP-activated protein kinase subunit beta-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF complex subunit BAF57 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF complex subunit BAF57 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Core binding factor, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Core binding factor, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SAGA complex, Sgf11 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SAGA complex, Sgf11 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-4 subunit, mammalian Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-4 subunit, mammalian protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gonadotropin, beta subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gonadotropin, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNE Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNE protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-ubiquinone oxidoreductase 51 kDa subunit, iron-sulphur binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone oxidoreductase 51 kDa subunit, iron-sulphur binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
F-actin capping protein, alpha subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the F-actin capping protein, alpha subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit C11/M/9 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit C11/M/9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V0 complex, c/d subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V0 complex, c/d subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, subunit B /E Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartyl/glutamyl-tRNA(Asn/Gln) amidotransferase, subunit B /E protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Inhibin, beta C subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, beta C subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerases, subunit N, zinc binding site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerases, subunit N, zinc binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phenylalanine-tRNA ligase, beta subunit, ferrodoxin-fold anticodon-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylalanine-tRNA ligase, beta subunit, ferrodoxin-fold anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Archaeal RpoH /eukaryotic RPB5 RNA polymerase subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Archaeal RpoH /eukaryotic RPB5 RNA polymerase subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor TFIIE, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor TFIIE, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer beta subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer beta subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 2A, regulatory subunit PR55 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 2A, regulatory subunit PR55 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Origin recognition complex, subunit 6, metazoa/plant Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Origin recognition complex, subunit 6, metazoa/plant protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNAB1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNAB1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNAB3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNAB3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNAB2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNAB2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Katanin p80 subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Katanin p80 subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA primase large subunit, eukaryotic/archaeal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA primase large subunit, eukaryotic/archaeal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome beta-type subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome beta-type subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glutamate-cysteine ligase catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate-cysteine ligase catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prolyl 4-hydroxylase, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prolyl 4-hydroxylase, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartate carbamoyltransferase regulatory subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartate carbamoyltransferase regulatory subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-ubiquinone oxidoreductase 51 kDa subunit, FMN-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone oxidoreductase 51 kDa subunit, FMN-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 2, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 2, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-6 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-6 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med25, synapsin 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med25, synapsin 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-2 complex subunit sigma Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-2 complex subunit sigma protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial outer membrane translocase complex, subunit Tom20 domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial outer membrane translocase complex, subunit Tom20 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Interferon gamma receptor alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Interferon gamma receptor alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med17 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med17 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med16 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
V-ATPase proteolipid subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the V-ATPase proteolipid subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, calcium-activated, BK, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, calcium-activated, BK, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein translocase complex, SecE/Sec61-gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein translocase complex, SecE/Sec61-gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5'-AMP-activated protein kinase catalytic subunit alpha-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5'-AMP-activated protein kinase catalytic subunit alpha-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5'-AMP-activated protein kinase catalytic subunit alpha-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5'-AMP-activated protein kinase catalytic subunit alpha-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Geranylgeranyl transferase type-2 subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Geranylgeranyl transferase type-2 subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
F-actin-capping protein subunit alpha Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the F-actin-capping protein subunit alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RISC-loading complex subunit TRBP2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RISC-loading complex subunit TRBP2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Rab3 GTPase-activating protein catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Rab3 GTPase-activating protein catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal peptidase 22kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal peptidase 22kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein alpha subunit, group 12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein alpha subunit, group 12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 2A, regulatory B subunit, B56 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 2A, regulatory B subunit, B56 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ciliary BBSome complex subunit 2, middle region Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ciliary BBSome complex subunit 2, middle region protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IIA, gamma subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IIA, gamma subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1 regulatory subunit 3B/C/D, Metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1 regulatory subunit 3B/C/D, Metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit E, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit E, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Organic solute transporter subunit alpha/Transmembrane protein 184 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Organic solute transporter subunit alpha/Transmembrane protein 184 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA pol I, largest subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA pol I, largest subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, MNLL subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, MNLL subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Adaptor protein complex AP-4, epsilon subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptor protein complex AP-4, epsilon subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium channel subunit beta-1/beta-3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium channel subunit beta-1/beta-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, 30-40kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, 30-40kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit 8, mitochondrial, Metazoan Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit 8, mitochondrial, Metazoan protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit b14.5b Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit b14.5b protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein prenyltransferase, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein prenyltransferase, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-ubiquinone oxidoreductase, 20 Kd subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone oxidoreductase, 20 Kd subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer beta subunit, appendage platform domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer beta subunit, appendage platform domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
3-oxoacid CoA-transferase, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 3-oxoacid CoA-transferase, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
3-oxoacid CoA-transferase, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 3-oxoacid CoA-transferase, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BLOC-1 complex, subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the BLOC-1 complex, subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Kinetochore-Ndc80 subunit Spc24 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Kinetochore-Ndc80 subunit Spc24 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP complex, mu/sigma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP complex, mu/sigma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, 30kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, 30kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GINS complex, subunit Sld5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GINS complex, subunit Sld5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase alpha, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase alpha, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, delta/epsilon subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, delta/epsilon subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP9/SRP14 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP9/SRP14 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, OSCP/delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, OSCP/delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med25, NR box Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med25, NR box protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphorylase kinase alpha/beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphorylase kinase alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit N/Rpb10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit N/Rpb10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med9 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-11 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-11 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Organic solute transporter subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Organic solute transporter subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome subunit P45 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome subunit P45 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nascent polypeptide-associated complex subunit alpha Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nascent polypeptide-associated complex subunit alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP54 subunit, GTPase domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP54 subunit, GTPase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Queuine tRNA-ribosyltransferase subunit QTRTD1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Queuine tRNA-ribosyltransferase subunit QTRTD1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit III Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit III protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Pyruvate dehydrogenase E1 component subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Pyruvate dehydrogenase E1 component subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinyl-CoA ligase, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinyl-CoA ligase, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonucleotide reductase, class I , alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase, class I , alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
H/ACA ribonucleoprotein complex, subunit Gar1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the H/ACA ribonucleoprotein complex, subunit Gar1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
V-type ATP synthase regulatory subunit B/beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the V-type ATP synthase regulatory subunit B/beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex subunit 7, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex subunit 7, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial inner membrane protease subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial inner membrane protease subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, alpha/beta subunit, nucleotide-binding domain, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, alpha/beta subunit, nucleotide-binding domain, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cleavage and polyadenylation specificity factor subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cleavage and polyadenylation specificity factor subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glutamyl-tRNA(Gln) amidotransferase, subunit B, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamyl-tRNA(Gln) amidotransferase, subunit B, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
FAM175 family, BRCA1-A complex, Abraxas subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the FAM175 family, BRCA1-A complex, Abraxas subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation initiation factor 3 complex subunit L Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 3 complex subunit L protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIID subunit, WD40-associated region Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIID subunit, WD40-associated region protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Biogenesis of lysosome-related organelles complex 1 subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Biogenesis of lysosome-related organelles complex 1 subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dynactin subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dynactin subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dynactin subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dynactin subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dynactin subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dynactin subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit H, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit H, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium channel subunit beta-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium channel subunit beta-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel gamma-like subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel gamma-like subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit RPB6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit RPB6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex subunit 7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex subunit 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIIH subunit Ssl1/p44 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIIH subunit Ssl1/p44 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex, subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex, subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prefoldin alpha subunit, archaea-type Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prefoldin alpha subunit, archaea-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Microsomal signal peptidase 12kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Microsomal signal peptidase 12kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle receptor, alpha subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle receptor, alpha subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
N-acetyltransferase B complex, non-catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the N-acetyltransferase B complex, non-catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CST complex subunit Stn1, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CST complex subunit Stn1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase I, subunit RPA34.5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase I, subunit RPA34.5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone deacetylase complex subunit SAP25 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone deacetylase complex subunit SAP25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP19 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP19 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RZZ complex, subunit KNTC1/ROD, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RZZ complex, subunit KNTC1/ROD, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase/fumarate reductase, flavoprotein subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase/fumarate reductase, flavoprotein subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase-like, 20kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase-like, 20kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome b558 alpha-subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b558 alpha-subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Extracellular Endonuclease, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Extracellular Endonuclease, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 4, WD40 domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 4, WD40 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit F6, mitochondrial subgroup Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit F6, mitochondrial subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, alpha-1F subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1F subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, alpha-1D subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1D subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex beta subunit/V1 complex, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex beta subunit/V1 complex, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RAVE subunit 2/Rogdi Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RAVE subunit 2/Rogdi protein domain from the InterPro Predicted Protein Domain Annotations dataset.
PI3 kinase, P85 regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the PI3 kinase, P85 regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
PAB-dependent poly(A)-specific ribonuclease subunit PAN2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the PAB-dependent poly(A)-specific ribonuclease subunit PAN2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 16 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import inner membrane translocase subunit Tim16 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit VIa, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit VIa, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Electron transfer flavoprotein, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Electron transfer flavoprotein, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
THO complex, subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the THO complex, subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gonadotropin, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gonadotropin, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1 regulatory subunit 26 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1 regulatory subunit 26 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-10 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-10 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-5 complex subunit zeta-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-5 complex subunit zeta-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit II C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit II C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinyl-CoA synthetase, beta subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinyl-CoA synthetase, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase C14, caspase non-catalytic subunit p10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C14, caspase non-catalytic subunit p10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin-2 complex subunit G2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin-2 complex subunit G2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CST complex subunit Ten1, animal and plant type Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CST complex subunit Ten1, animal and plant type protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome beta subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome beta subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit VIIa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit VIIa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS complex subunit 5, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS complex subunit 5, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex, subunit 2, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex, subunit 2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ESCRT-II complex, vps25 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ESCRT-II complex, vps25 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP54 subunit, M-domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP54 subunit, M-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, gamma-4 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, gamma-4 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex subunit 7, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex subunit 7, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphorylase kinase, gamma catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphorylase kinase, gamma catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial F1-F0 ATP synthase subunit F, predicted Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial F1-F0 ATP synthase subunit F, predicted protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATP synthase subunit alpha-like domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit alpha-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA (1-methyladenosine) methyltransferase catalytic subunit Gcd14 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA (1-methyladenosine) methyltransferase catalytic subunit Gcd14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, epsilon subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, epsilon subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome regulatory subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome regulatory subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF-like complex subunit BAF250a Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF-like complex subunit BAF250a protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Splicing factor 3B subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Splicing factor 3B subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CCAAT-binding transcription factor, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CCAAT-binding transcription factor, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, subunit omega/K/RPB6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, subunit omega/K/RPB6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATP synthase subunit s, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATP synthase subunit s, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase M, 15kDa subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase M, 15kDa subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
F-actin capping protein, beta subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the F-actin capping protein, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-quinone oxidoreductase, subunit D Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-quinone oxidoreductase, subunit D protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIIH subunit Tfb1/p62 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIIH subunit Tfb1/p62 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit E/RPC8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit E/RPC8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit E, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit E, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit G, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit G, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Adaptor protein complex AP-1, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptor protein complex AP-1, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP72 subunit, RNA-binding Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP72 subunit, RNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP9 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP9 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
H/ACA ribonucleoprotein complex, subunit Nhp2, eukaryote Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the H/ACA ribonucleoprotein complex, subunit Nhp2, eukaryote protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Prefoldin, subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Prefoldin, subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Clp protease proteolytic subunit /Translocation-enhancing protein TepA Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Clp protease proteolytic subunit /Translocation-enhancing protein TepA protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex, subunit CCDC53 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex, subunit CCDC53 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import inner membrane translocase subunit Tim50 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim50 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor NF-E2, 45 kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor NF-E2, 45 kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonucleotide reductase large subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonucleotide reductase large subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med13 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med11 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med14 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med14 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BLOC-2 complex, Hps6 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the BLOC-2 complex, Hps6 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor pi subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor pi subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer beta' subunit (COPB2) Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer beta' subunit (COPB2) protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone deacetylase complex subunit SAP130 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone deacetylase complex subunit SAP130 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIIH subunit Tfb4/p34 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIIH subunit Tfb4/p34 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ubiquinol-cytochrome c reductase, iron-sulphur subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ubiquinol-cytochrome c reductase, iron-sulphur subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase alpha, subunit B N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase alpha, subunit B N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BLOC-2 complex, Hps5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the BLOC-2 complex, Hps5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinyl-CoA synthetase, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinyl-CoA synthetase, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NAD(P) transhydrogenase, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NAD(P) transhydrogenase, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
F1F0 ATP synthase OSCP/delta subunit, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the F1F0 ATP synthase OSCP/delta subunit, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CD3 signalling complex delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CD3 signalling complex delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-5 complex subunit sigma-1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-5 complex subunit sigma-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Katanin p60 subunit A1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Katanin p60 subunit A1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, ESSS subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, ESSS subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] (complex I), alpha subcomplex, subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med31 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med31 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CST complex subunit Stn1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CST complex subunit Stn1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNAse P, Rpr2/Rpp21 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNAse P, Rpr2/Rpp21 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translocon-associated, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translocon-associated, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import receptor subunit TOM7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import receptor subunit TOM7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal peptidase complex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal peptidase complex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glycoprotein hormone subunit beta, cystine knot Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycoprotein hormone subunit beta, cystine knot protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, P/Q-type, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, P/Q-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor theta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor theta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Dimerization-anchoring domain of cAMP-dependent protein kinase, regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Dimerization-anchoring domain of cAMP-dependent protein kinase, regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
FACT complex subunit Spt16, N-terminal lobe domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the FACT complex subunit Spt16, N-terminal lobe domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation initiation factor 2, gamma subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 2, gamma subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome non-ATPase regulatory subunit Rpn12 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome non-ATPase regulatory subunit Rpn12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Katanin p60 ATPase-containing subunit A-like 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Katanin p60 ATPase-containing subunit A-like 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit II Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit II protein domain from the InterPro Predicted Protein Domain Annotations dataset.
V-type ATPase, V0 complex, 116kDa subunit family Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the V-type ATPase, V0 complex, 116kDa subunit family protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase II transcription factor SIII, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase II transcription factor SIII, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
cAMP-dependent protein kinase regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the cAMP-dependent protein kinase regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthase, large subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthase, large subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphatidylinositol N-acetylglucosaminyltransferase subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphatidylinositol N-acetylglucosaminyltransferase subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nuclear cap-binding protein subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear cap-binding protein subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nuclear cap-binding protein subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear cap-binding protein subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1 regulatory subunit 12A/B, chordates Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1 regulatory subunit 12A/B, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP54 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP54 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase III subunit RPC82-related, helix-turn-helix Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase III subunit RPC82-related, helix-turn-helix protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH-ubiquinone oxidoreductase, subunit 10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH-ubiquinone oxidoreductase, subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, B chain/subunit B/MI25 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, B chain/subunit B/MI25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
TFIIH subunit TTDA/Tfb5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the TFIIH subunit TTDA/Tfb5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Meprin alpha/beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Meprin alpha/beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome, subunit alpha/beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome, subunit alpha/beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Electron transfer flavoprotein, alpha/beta-subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Electron transfer flavoprotein, alpha/beta-subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DASH complex subunit Hsk3 like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DASH complex subunit Hsk3 like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF-like complex subunit BAF250/Osa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF-like complex subunit BAF250/Osa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
snRNA-activating protein complex subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the snRNA-activating protein complex subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 9 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 9 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Chromatin assembly factor 1 subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Chromatin assembly factor 1 subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-cell surface glycoprotein CD3 zeta/eta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-cell surface glycoprotein CD3 zeta/eta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glucosidase II beta subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glucosidase II beta subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase RPB5 subunit, eukaryote/virus Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase RPB5 subunit, eukaryote/virus protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit F, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit F, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
H/ACA ribonucleoprotein complex, subunit Gar1/Naf1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the H/ACA ribonucleoprotein complex, subunit Gar1/Naf1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Exocyst complex subunit Sec15-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Exocyst complex subunit Sec15-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium channel subunit beta-3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium channel subunit beta-3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Iron hydrogenase, large subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Iron hydrogenase, large subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Chromatin assembly factor 1 subunit B, C-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Chromatin assembly factor 1 subunit B, C-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase I, subunit A (TATA-binding protein-associated factor) Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase I, subunit A (TATA-binding protein-associated factor) protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA primase, large subunit, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA primase, large subunit, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, beta-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, beta-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V0 complex, subunit e1/e2, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V0 complex, subunit e1/e2, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, epsilon subunit, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, epsilon subunit, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome b-c1 complex, subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome b-c1 complex, subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase C14, ICE, catalytic subunit p20, active site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C14, ICE, catalytic subunit p20, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase alpha/epsilon, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase alpha/epsilon, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome alpha-subunit, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome alpha-subunit, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, beta subunit, protrusion Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, beta subunit, protrusion protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Calmodulin-binding domain C0, NMDA receptor, NR1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Calmodulin-binding domain C0, NMDA receptor, NR1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation elongation factor EF1B, beta/delta subunit, guanine nucleotide exchange protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Retinal cGMP phosphodiesterase, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Retinal cGMP phosphodiesterase, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase subunit 2, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase subunit 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GINS complex, subunit Psf3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GINS complex, subunit Psf3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GINS complex, subunit Psf1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GINS complex, subunit Psf1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cleavage/polyadenylation specificity factor, A subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cleavage/polyadenylation specificity factor, A subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase 1, beta subcomplex, subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase 1, beta subcomplex, subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex subunit 8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 2, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histone acetyltransferases subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histone acetyltransferases subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Potassium channel, voltage-dependent, beta subunit, KCNAB-related Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Potassium channel, voltage-dependent, beta subunit, KCNAB-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.
N-terminal acetyltransferase A, auxiliary subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the N-terminal acetyltransferase A, auxiliary subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-6 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-6 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nuclear envelope phosphatase-regulatory subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear envelope phosphatase-regulatory subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome C oxidase, subunit VIIB Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome C oxidase, subunit VIIB protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase II subunit GRINL1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase II subunit GRINL1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium/potassium-transporting ATPase subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium/potassium-transporting ATPase subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 5, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 5, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Hypoxia-inducible factor, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Hypoxia-inducible factor, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex, subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex, subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Clp protease, ATP-binding subunit ClpX Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Clp protease, ATP-binding subunit ClpX protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Activating signal cointegrator 1 complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Activating signal cointegrator 1 complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med19, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med19, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nerve growth factor, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nerve growth factor, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase, subunit 2, domain 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase, subunit 2, domain 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor IIIC, 90kDa subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor IIIC, 90kDa subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
COMPASS complex Set1 subunit, N-SET domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the COMPASS complex Set1 subunit, N-SET domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BIG/ATPase V1 complex, subunit S1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the BIG/ATPase V1 complex, subunit S1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Fanconi anemia complex, subunit FancL, WD-repeat containing domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Fanconi anemia complex, subunit FancL, WD-repeat containing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein farnesyltransferase subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein farnesyltransferase subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Casein kinase II, regulatory subunit, beta-sheet Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Casein kinase II, regulatory subunit, beta-sheet protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, beta-3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, beta-3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import receptor subunit TOM6 homologue Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import receptor subunit TOM6 homologue protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GMP phosphodiesterase, delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GMP phosphodiesterase, delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle, SRP54 subunit, helical bundle Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle, SRP54 subunit, helical bundle protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase T1A, proteasome beta-subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase T1A, proteasome beta-subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA (guanine-N-7) methyltransferase catalytic subunit Trm8, eukaryote Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA (guanine-N-7) methyltransferase catalytic subunit Trm8, eukaryote protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase II subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase II subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle subunit SRP68 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle subunit SRP68 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit 8 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, beta-2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, beta-2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, T-type, alpha-1H subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, T-type, alpha-1H subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit Vb, zinc binding site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit Vb, zinc binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit Vb Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit Vb protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-3 complex subunit beta 1, serine-rich domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-3 complex subunit beta 1, serine-rich domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Molybdopterin synthase sulfur carrier subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Molybdopterin synthase sulfur carrier subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translation initiation factor 2, alpha subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translation initiation factor 2, alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex subunit 7, central domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex subunit 7, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
snRNA-activating protein complex, subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the snRNA-activating protein complex, subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase alpha catalytic subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase alpha catalytic subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Alpha-crystallin, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-crystallin, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Centromere subunit L Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Centromere subunit L protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrator complex subunit 5, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrator complex subunit 5, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Spectrin, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Spectrin, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase subunit Cdc27 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase subunit Cdc27 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
H/ACA ribonucleoprotein complex, subunit Nop10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the H/ACA ribonucleoprotein complex, subunit Nop10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
GA-binding protein alpha subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the GA-binding protein alpha subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ER membrane protein complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ER membrane protein complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ER membrane protein complex subunit 6 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ER membrane protein complex subunit 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Conserved oligomeric Golgi complex subunit 8, Metazoal and Viridiplantae protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase III, subunit Rpc25 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase III, subunit Rpc25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sodium/potassium-transporting ATPase subunit alpha-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sodium/potassium-transporting ATPase subunit alpha-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin complex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin complex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 1, regulatory subunit 15A/B, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 1, regulatory subunit 15A/B, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein phosphatase 2A, regulatory subunit PR55, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein phosphatase 2A, regulatory subunit PR55, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA topoisomerase, type IIA, subunit A/ C-terminal, alpha-beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA topoisomerase, type IIA, subunit A/ C-terminal, alpha-beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, alpha 2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, alpha 2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 6, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 6, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial inner membrane translocase complex, subunit Tim17 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial inner membrane translocase complex, subunit Tim17 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Electron transfer flavoprotein, alpha subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Electron transfer flavoprotein, alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Importin subunit alpha Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Importin subunit alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Alpha-crystallin, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Alpha-crystallin, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta subunit, N-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta subunit, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
THO complex subunit 7/Mft1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the THO complex subunit 7/Mft1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Inhibin, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease H2, subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease H2, subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease H2, subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease H2, subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Ribonuclease H2, subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Ribonuclease H2, subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Inhibin, beta B subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, beta B subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA-splicing endonuclease, SEN2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA-splicing endonuclease, SEN2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Little elongation complex subunit 2 , C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Little elongation complex subunit 2 , C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med15, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med15, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF complex subunit SMARCC1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF complex subunit SMARCC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Inhibin, beta A subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Inhibin, beta A subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Proteasome endopeptidase complex, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Proteasome endopeptidase complex, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH dehydrogenase, subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH dehydrogenase, subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Rab3GAP regulatory subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Rab3GAP regulatory subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Methionine adenosyltransferase 2 subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Methionine adenosyltransferase 2 subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Katanin p80 subunit B1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Katanin p80 subunit B1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNFcomplex subunit SMARCC2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNFcomplex subunit SMARCC2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-4 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-4 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase epsilon, catalytic subunit A, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase epsilon, catalytic subunit A, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
BLOC-1 complex, pallidin subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the BLOC-1 complex, pallidin subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin complex subunit 2/barren Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin complex subunit 2/barren protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 4, metazoa Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 4, metazoa protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Non-SMC condensin II complex, subunit H2-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Non-SMC condensin II complex, subunit H2-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glutamate [NMDA] receptor, epsilon subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamate [NMDA] receptor, epsilon subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Nerve growth factor, beta subunit, mammalian Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Nerve growth factor, beta subunit, mammalian protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor TFIID, 23-30kDa subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor TFIID, 23-30kDa subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Biogenesis of lysosome-related organelles complex-1, subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Biogenesis of lysosome-related organelles complex-1, subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome complex ubiquitin receptor, subunit Rpn13 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome complex ubiquitin receptor, subunit Rpn13 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F0 complex, subunit F6, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F0 complex, subunit F6, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-3 complex subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-3 complex subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translocon-associated protein subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translocon-associated protein subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA polymerase alpha catalytic subunit, N-terminal domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA polymerase alpha catalytic subunit, N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Structure-specific endonuclease subunit Slx4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Structure-specific endonuclease subunit Slx4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Structure-specific endonuclease subunit Slx1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Structure-specific endonuclease subunit Slx1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glutamyl-tRNA(Gln) amidotransferase A subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glutamyl-tRNA(Gln) amidotransferase A subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Clathrin adaptor, mu subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Clathrin adaptor, mu subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF complex subunit SMARCA2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF complex subunit SMARCA2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, eta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, eta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNase P subunit p30 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNase P subunit p30 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta subunit, tail Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta subunit, tail protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex subunit 7 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex subunit 7 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 4 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Actin-related protein 2/3 complex subunit 2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Actin-related protein 2/3 complex subunit 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Peptidase C14, ICE, catalytic subunit p20 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Peptidase C14, ICE, catalytic subunit p20 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, L-type, alpha-1S subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, L-type, alpha-1S subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V0 complex, subunit e1/e2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V0 complex, subunit e1/e2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Preprotein translocase subunit SecE Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Preprotein translocase subunit SecE protein domain from the InterPro Predicted Protein Domain Annotations dataset.
DNA-directed RNA polymerase delta subunit/Asxl Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the DNA-directed RNA polymerase delta subunit/Asxl protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthetase, large subunit oligomerisation domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthetase, large subunit oligomerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Succinate dehydrogenase, cytochrome b subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Succinate dehydrogenase, cytochrome b subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
THO complex, subunit THOC1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the THO complex, subunit THOC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Carbamoyl-phosphate synthase large subunit, CPSase domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Carbamoyl-phosphate synthase large subunit, CPSase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mitochondrial import receptor subunit TOM5 homologue Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mitochondrial import receptor subunit TOM5 homologue protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage-dependent calcium channel, alpha-1 subunit, IQ domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage-dependent calcium channel, alpha-1 subunit, IQ domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Guanine nucleotide-binding protein, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Guanine nucleotide-binding protein, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cation channel sperm-associated protein subunit delta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cation channel sperm-associated protein subunit delta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, gamma 2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, gamma 2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, F1 complex, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, F1 complex, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
G-protein, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the G-protein, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit, Trm82 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit, Trm82 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5'-AMP-activated protein kinase subunit beta-2 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5'-AMP-activated protein kinase subunit beta-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Putative phosphatase regulatory subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Putative phosphatase regulatory subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CD3 protein, epsilon/gamma/delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CD3 protein, epsilon/gamma/delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription factor, GA-binding, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription factor, GA-binding, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-secretase aspartyl protease complex, presenilin enhancer-2 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-secretase aspartyl protease complex, presenilin enhancer-2 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit I Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit I protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit H Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit H protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit K Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit K protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit J Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit J protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit M Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit M protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit C Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit C protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit B Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit B protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit E Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit E protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit G Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit G protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Eukaryotic translation initiation factor 3 subunit F Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Eukaryotic translation initiation factor 3 subunit F protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CCR4-Not complex, Not1 subunit, domain of unknown function DUF3819 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
HAUS augmin-like complex subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the HAUS augmin-like complex subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IIF, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IIF, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
SWI/SNF complex subunit BRG1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the SWI/SNF complex subunit BRG1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Aspartyl/glutamyl-tRNA amidotransferase subunit B-related Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Aspartyl/glutamyl-tRNA amidotransferase subunit B-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.
5-hydroxytryptamine 3 receptor, A subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 5-hydroxytryptamine 3 receptor, A subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Signal recognition particle receptor, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Signal recognition particle receptor, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Molybdopterin converting factor, subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Molybdopterin converting factor, subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Citrate lyase beta subunit-like Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Citrate lyase beta subunit-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.
26S proteasome regulatory complex, non-ATPase subcomplex, Rpn2/Psmd1 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the 26S proteasome regulatory complex, non-ATPase subcomplex, Rpn2/Psmd1 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med1, metazoa/fungi Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med1, metazoa/fungi protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Protein translocase SEC61 complex, gamma subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Protein translocase SEC61 complex, gamma subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Mediator complex, subunit Med6, metazoa/plant Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Mediator complex, subunit Med6, metazoa/plant protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex, subunit 10/DOC domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex, subunit 10/DOC domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ESCRT-II complex, Vps25 subunit, N-terminal winged helix Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ESCRT-II complex, Vps25 subunit, N-terminal winged helix protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V1 complex, subunit S1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V1 complex, subunit S1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NAD(P) transhydrogenase, alpha subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NAD(P) transhydrogenase, alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Translocon-associated protein (TRAP), alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Translocon-associated protein (TRAP), alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Voltage gated sodium channel, alpha-9 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Voltage gated sodium channel, alpha-9 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cilia BBSome complex subunit 10 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cilia BBSome complex subunit 10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Casein kinase II, regulatory subunit, alpha-helical Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Casein kinase II, regulatory subunit, alpha-helical protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Adaptor protein complex AP-3, delta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Adaptor protein complex AP-3, delta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Gamma-aminobutyric-acid A receptor, beta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Gamma-aminobutyric-acid A receptor, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Coatomer, alpha subunit, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Coatomer, alpha subunit, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
NADH:ubiquinone oxidoreductase, B18 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the NADH:ubiquinone oxidoreductase, B18 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cleavage/polyadenylation specificity factor subunit 5 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cleavage/polyadenylation specificity factor subunit 5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
U2 snRNP auxilliary factor, large subunit, splicing factor Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the U2 snRNP auxilliary factor, large subunit, splicing factor protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-5 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-5 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Transcription initiation factor IIF, alpha subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Transcription initiation factor IIF, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Spo11/DNA topoisomerase VI subunit A Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Spo11/DNA topoisomerase VI subunit A protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Anaphase-promoting complex subunit 4 long domain Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Anaphase-promoting complex subunit 4 long domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.
B-block binding subunit of TFIIIC Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the B-block binding subunit of TFIIIC protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP complex subunit beta Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP complex subunit beta protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin subunit 1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
T-complex protein 1, theta subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the T-complex protein 1, theta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
AP-4 complex subunit epsilon-1, C-terminal Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the AP-4 complex subunit epsilon-1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase subunit VIIa-related, mitochondrial Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase subunit VIIa-related, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.
WASH complex, subunit strumpellin Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the WASH complex, subunit strumpellin protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Sarcoglycan complex subunit protein Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Sarcoglycan complex subunit protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Tryptophan synthase beta subunit-like PLP-dependent enzyme Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Tryptophan synthase beta subunit-like PLP-dependent enzyme protein domain from the InterPro Predicted Protein Domain Annotations dataset.
CST complex subunit CTC1 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the CST complex subunit CTC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Cytochrome c oxidase, subunit VIb Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Cytochrome c oxidase, subunit VIb protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Condensin-2 complex subunit D3 Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Condensin-2 complex subunit D3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.
RNA polymerase, beta subunit, conserved site Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the RNA polymerase, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Oligosaccharyl transferase, STT3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Oligosaccharyl transferase, STT3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.
ATPase, V0 complex, subunit 116kDa, eukaryotic Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the ATPase, V0 complex, subunit 116kDa, eukaryotic protein domain from the InterPro Predicted Protein Domain Annotations dataset.
Integrin beta-3 subunit Gene Set From InterPro Predicted Protein Domain Annotations proteins predicted to have the Integrin beta-3 subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Harmonizome 3.0

CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset

GEO Signatures of Differentially Expressed Genes for Small Molecules Dataset

LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules Dataset (Archived)

CAPNS1 Gene

CAPNS2 Gene

CAPNS1P1 Gene

CAPN2 Gene

CAPN1 Gene

CAPN15 Gene

CAPN14 Gene

CAPN13 Gene

CAPN12 Gene

CAPN11 Gene

CAPN10 Gene

CAPN8 Gene

CAPN7 Gene

CAPN6 Gene

CAPN5 Gene

CAPN3 Gene

CAPN9 Gene

LOC101928952 Gene

KRR1 Gene

RRP9 Gene

UTP3 Gene

LOC100422490 Gene

LOC100422497 Gene

UTP18 Gene

CMSS1 Gene

SPTSSA Gene

SPTSSB Gene

UTP6 Gene

KRR1P1 Gene

UTP23 Gene

UTP20 Gene

UTP4 Gene

UTP11 Gene

UTP25 Gene

FSAF1 Gene

RIIAD1 Gene

LOC102725016 Gene

LOC100507083 Gene

ATP5G2P1 Gene

ATP5G2P3 Gene

ATP5G2P2 Gene

ATP5G2P4 Gene

ATP5G3 Gene

ATP5G2 Gene

ATP5G1P3 Gene

ATP5G1P1 Gene

ATP5G1P2 Gene

ATP5G1P6 Gene

ATP5G1P7 Gene

ATP5G1P4 Gene

ATP5G1P5 Gene

ATP5G1P8 Gene

LOC102724991 Gene

ATP5G1 Gene

RNU5B-1 Gene

SNRPCP6 Gene

RNU6-67P Gene

RNU7-36P Gene

SNORA81 Gene

SNORA84 Gene

SGSM3 Gene

SNORD115-14 Gene

SNORD115-16 Gene

SNORD115-17 Gene

SNORD115-10 Gene

RNU1-16P Gene

RNU7-53P Gene

RNU5A-5P Gene

SNORD48 Gene

SNORD90 Gene

SNORD41 Gene

SNORD47 Gene

SNORD44 Gene

SNORD93 Gene

SNORD4B Gene

SNORD4A Gene