Harmonizome 3.0

rong>centromererong> rong>proteinrong> J-like

rong>centromererong> rong>proteinrong> V pseudogene 3

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V pseudogene 2

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V pseudogene 1

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

inner rong>centromererong> rong>proteinrong> antigens 135/155kDa

In mammalian cells, 2 broad groups of rong>centromererong>-interacting rong>proteinrong>s have been described: constitutively binding rong>centromererong> rong>proteinrong>s and 'passenger,' or transiently interacting, rong>proteinrong>s (reviewed by Choo, 1997). The constitutive rong>proteinrong>s include CENPA (rong>centromererong> rong>proteinrong> A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger rong>proteinrong>s' encompasses a broad collection of rong>proteinrong>s that localize to the rong>centromererong> during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner rong>centromererong> rong>proteinrong>s (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger rong>proteinrong> group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at rong>centromererong>s as the cell cycle progresses into mid-metaphase. During telophase, the rong>proteinrong>s are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> C pseudogene 1

rong>centromererong> rong>proteinrong> O

This gene encodes a component of the interphase rong>centromererong> complex. The encoded rong>proteinrong> is localized to the rong>centromererong> throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple rong>proteinrong> isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

rong>centromererong> rong>proteinrong> N

The rong>proteinrong> encoded by this gene forms part of the nucleosome-associated complex and is important for kinetochore assembly. It is bound to kinetochores during S phase and G2 and recruits other rong>proteinrong>s to the rong>centromererong>. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different rong>proteinrong> isoforms. [provided by RefSeq, Jul 2012]

rong>centromererong> rong>proteinrong> M

The rong>proteinrong> encoded by this gene is an inner rong>proteinrong> of the kinetochore, the multi-rong>proteinrong> complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive rong>centromererong>-associated network rong>proteinrong> group, whose members interact with outer kinetochore rong>proteinrong>s and help to maintain rong>centromererong> identity at each cell division cycle. The rong>proteinrong> is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive rong>centromererong>-associated network rong>proteinrong>, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

rong>centromererong> rong>proteinrong> L

CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to rong>centromererong>s and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> K

CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to rong>centromererong>s and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> J

This gene encodes a rong>proteinrong> that belongs to the rong>centromererong> rong>proteinrong> family. During cell division, this rong>proteinrong> plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This rong>proteinrong> can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding rong>proteinrong>. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]

rong>centromererong> rong>proteinrong> I

This gene encodes a rong>centromererong> rong>proteinrong> that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This rong>proteinrong> regulates the recruitment of kinetochore-associated rong>proteinrong>s that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]

rong>centromererong> rong>proteinrong> H

rong>Centromererong> and kinetochore rong>proteinrong>s play a critical role in rong>centromererong> structure, kinetochore formation, and sister chromatid separation. The rong>proteinrong> encoded by this gene colocalizes with inner kinetochore plate rong>proteinrong>s CENP-A and CENP-C in both interphase and metaphase. It localizes outside of centromeric heterochromatin, where CENP-B is localized, and inside the kinetochore corona, where CENP-E is localized during prometaphase. It is thought that this rong>proteinrong> can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the rong>proteinrong> localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active rong>centromererong>-kinetochore complex. [provided by RefSeq, Jul 2008]

rong>centromererong> rong>proteinrong> F, 350/400kDa

This gene encodes a rong>proteinrong> that associates with the rong>centromererong>-kinetochore complex. The rong>proteinrong> is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the rong>proteinrong> associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this rong>proteinrong> suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this rong>proteinrong> have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

rong>centromererong> rong>proteinrong> E, 312kDa

Centrosome-associated rong>proteinrong> E (CENPE) is a kinesin-like motor rong>proteinrong> that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated rong>proteinrong>s, it is not present during interphase and first appears at the rong>centromererong> region of chromosomes during prometaphase. This rong>proteinrong> is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This rong>proteinrong> also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct rong>proteinrong> isoforms. [provided by RefSeq, Nov 2014]

rong>centromererong> rong>proteinrong> W

Predicted to enable DNA binding activity and rong>proteinrong> heterodimerization activity. Involved in chromosome segregation; kinetochore assembly; and mitotic cell cycle. Located in kinetochore and nucleoplasm. Part of inner kinetochore. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. Involved in several processes, including rong>centromererong> complex assembly; pericentric heterochromatin formation; and positive regulation of cytokinesis. Acts upstream of or within ameboidal-type cell migration. Located in several cellular components, including midbody; nucleus; and spindle midzone. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> U

The rong>centromererong> is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active rong>centromererong>s are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for rong>centromererong> assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> T

The rong>centromererong> is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active rong>centromererong>s are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for rong>centromererong> assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> Q

CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to rong>centromererong>s and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> L pseudogene

rong>centromererong> rong>proteinrong> U pseudogene 1

rong>centromererong> rong>proteinrong> U pseudogene 2

rong>centromererong> rong>proteinrong> N pseudogene

rong>centromererong> rong>proteinrong> J-like

rong>centromererong> rong>proteinrong> I pseudogene 1

rong>centromererong> rong>proteinrong> C

rong>Centromererong> rong>proteinrong> C 1 is a rong>centromererong> autoantigen and a component of the inner kinetochore plate. The rong>proteinrong> is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]

rong>centromererong> rong>proteinrong> B, 80kDa

This gene product is a highly conserved rong>proteinrong> that facilitates rong>centromererong> formation. It is a DNA-binding rong>proteinrong> that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This rong>proteinrong> is proposed to play an important role in the assembly of specific rong>centromererong> structures in interphase nuclei and on mitotic chromosomes. It is also considered a major rong>centromererong> autoantigen recognized by sera from patients with anti-rong>centromererong> antibodies. [provided by RefSeq, Jul 2008]

rong>centromererong> rong>proteinrong> A

rong>Centromererong>s are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a rong>centromererong> rong>proteinrong> which contains a histone H3 related histone fold domain that is required for targeting to the rong>centromererong>. rong>Centromererong> rong>proteinrong> A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The rong>proteinrong> is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]

rong>centromererong> rong>proteinrong> P

CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to rong>centromererong>s and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]

rong>centromererong> rong>proteinrong> N pseudogene

rong>centromererong> rong>proteinrong> V pseudogene

rong>centromererong> rong>proteinrong> S

This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding rong>proteinrong>-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The rong>proteinrong> is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

rong>centromererong> rong>proteinrong> X

Enables DNA binding activity. Contributes to double-stranded DNA binding activity. Involved in interstrand cross-link repair; replication fork processing; and resolution of meiotic recombination intermediates. Part of chromosome and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V like 3

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V like 1

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

rong>centromererong> rong>proteinrong> V like 2

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Mar 2025]

tumor rong>proteinrong> p53 inducible rong>proteinrong> 3

The rong>proteinrong> encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3-like

heat shock 70kDa rong>proteinrong> 5 (glucose-regulated rong>proteinrong>, 78kDa) pseudogene

GTPase activating rong>proteinrong> (SH3 domain) binding rong>proteinrong> 1

This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding rong>proteinrong>s and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating rong>proteinrong> by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

RAS p21 rong>proteinrong> activator (GTPase activating rong>proteinrong>) 1

The rong>proteinrong> encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating rong>proteinrong>s. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the rong>proteinrong> enhances the weak intrinsic GTPase activity of RAS rong>proteinrong>s resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either rong>proteinrong> are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 4

PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

ligand of numb-rong>proteinrong> X 1, E3 ubiquitin rong>proteinrong> ligase pseudogene

MYC binding rong>proteinrong> 2, E3 ubiquitin rong>proteinrong> ligase

This gene encodes an E3 ubiquitin-rong>proteinrong> ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of rong>proteinrong>s. The encoded rong>proteinrong> plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this rong>proteinrong> regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]

mitogen-activated rong>proteinrong> kinase-activated rong>proteinrong> kinase 5

The rong>proteinrong> encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded rong>proteinrong> is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock rong>proteinrong> HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]

mitogen-activated rong>proteinrong> kinase-activated rong>proteinrong> kinase 3

This gene encodes a member of the Ser/Thr rong>proteinrong> kinase family. This kinase functions as a mitogen-activated rong>proteinrong> kinase (MAP kinase)- activated rong>proteinrong> kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same rong>proteinrong>. [provided by RefSeq, Sep 2011]

mitogen-activated rong>proteinrong> kinase-activated rong>proteinrong> kinase 2

This gene encodes a member of the Ser/Thr rong>proteinrong> kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock rong>proteinrong> HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5 pseudogene 4

tumor rong>proteinrong> p53 inducible rong>proteinrong> 11

Predicted to be involved in negative regulation of cell population proliferation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ring finger rong>proteinrong> 128, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene is a type I transmembrane rong>proteinrong> that localizes to the endocytic pathway. This rong>proteinrong> contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

ring finger rong>proteinrong> 125, E3 ubiquitin rong>proteinrong> ligase

This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this rong>proteinrong> associates with membranes and is primarily localized to intracellular membrane systems. The encoded rong>proteinrong> may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

mitogen-activated rong>proteinrong> kinase 1 interacting rong>proteinrong> 1-like

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 10 pseudogene 1

amyloid beta (A4) precursor rong>proteinrong>-binding, family B, member 1 interacting rong>proteinrong>

Predicted to be involved in signal transduction. Predicted to act upstream of or within T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell and positive regulation of cell adhesion. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5 pseudogene 1

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5 pseudogene 3

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5 pseudogene 2

Predicted to enable G-rong>proteinrong> beta-subunit binding activity. Predicted to be involved in G rong>proteinrong>-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-rong>proteinrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5 pseudogene 5

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 1 pseudogene

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 1 pseudogene

tumor rong>proteinrong> p53 inducible rong>proteinrong> 13

Involved in several processes, including negative regulation of cell cycle; response to UV; and response to xenobiotic stimulus. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

rong>proteinrong> tyrosine phosphatase, receptor type, C-associated rong>proteinrong>

The rong>proteinrong> encoded by this gene was identified as a transmembrane phosphorong>proteinrong> specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this rong>proteinrong>. [provided by RefSeq, Jul 2008]

putative ubiquitin-like rong>proteinrong> FUBI-like rong>proteinrong> ENSP00000310146

mitogen-activated rong>proteinrong> kinase binding rong>proteinrong> 1

This gene encodes a scaffold rong>proteinrong> that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing rong>proteinrong> 2) signaling pathways. The encoded rong>proteinrong> interacts with another related JNK pathway scaffold rong>proteinrong>, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This rong>proteinrong> may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded rong>proteinrong> cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 2-like 1

Enables several functions, including cyclin binding activity; enzyme binding activity; and rong>proteinrong> domain specific binding activity. Involved in several processes, including regulation of rong>proteinrong> metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex. [provided by Alliance of Genome Resources, Mar 2025]

tumor rong>proteinrong> p53 binding rong>proteinrong> 1

This gene encodes a rong>proteinrong> that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This rong>proteinrong> plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response rong>proteinrong>s to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]

tumor rong>proteinrong> p53 binding rong>proteinrong> 2

This gene encodes a member of the ASPP (apoptosis-stimulating rong>proteinrong> of p53) family of p53 interacting rong>proteinrong>s. The rong>proteinrong> contains four ankyrin repeats and an SH3 domain involved in rong>proteinrong>-rong>proteinrong> interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong>, pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 11 (Gq class) pseudogene

ring finger rong>proteinrong> 138, E3 ubiquitin rong>proteinrong> ligase pseudogene 1

low density liporong>proteinrong> receptor-related rong>proteinrong> associated rong>proteinrong> 1

This gene encodes a rong>proteinrong> that interacts with the low density liporong>proteinrong> (LDL) receptor-related rong>proteinrong> and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

double homeobox rong>proteinrong> 4-like rong>proteinrong> 4

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 14

This gene encodes a member of the guanine nucleotide-binding, or G rong>proteinrong> family. G rong>proteinrong>s are heterotrimers consisting of alpha, beta and gamma subunits. The encoded rong>proteinrong> is a member of the alpha family of G rong>proteinrong>s, more specifically the alpha q subfamily of G rong>proteinrong>s. The encoded rong>proteinrong> may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 15 (Gq class)

Enables G rong>proteinrong>-coupled receptor binding activity. Acts upstream of or within with a positive effect on calcium-mediated signaling. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-rong>proteinrong> complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>) alpha 12

Enables G rong>proteinrong> activity; rong>proteinrong> phosphatase 2A binding activity; and rong>proteinrong> phosphatase activator activity. Involved in regulation of TOR signaling and regulation of proteasomal ubiquitin-dependent rong>proteinrong> catabolic process. Located in lateral plasma membrane; neuron projection; and neuronal cell body. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 13

Enables G rong>proteinrong> activity. Involved in G rong>proteinrong>-coupled receptor signaling pathway. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 11 (Gq class)

The rong>proteinrong> encoded by this gene belongs to the family of guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which function as modulators or transducers in various transmembrane signaling systems. G rong>proteinrong>s are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

rong>proteinrong> kinase C, delta binding rong>proteinrong>

The rong>proteinrong> encoded by this gene was identified as a binding rong>proteinrong> of the rong>proteinrong> kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this rong>proteinrong> was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this rong>proteinrong>. [provided by RefSeq, Jul 2008]

tumor rong>proteinrong> p53 regulated apoptosis inducing rong>proteinrong> 1

This gene is specifically expressed in the thymus, and encodes a rong>proteinrong> that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

nuclear fragile X mental retardation rong>proteinrong> interacting rong>proteinrong> 2

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025]

nuclear fragile X mental retardation rong>proteinrong> interacting rong>proteinrong> 1

This gene encodes a nuclear RNA binding rong>proteinrong> that contains a C2H2 zinc finger motif and a nuclear localization signal. This rong>proteinrong> is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This rong>proteinrong> interacts with the fragile X mental retardation rong>proteinrong> (FMRP), the tumor suppressor rong>proteinrong> BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

ring finger rong>proteinrong> 19A, RBR E3 ubiquitin rong>proteinrong> ligase

This gene encodes a member of the ring between ring fingers (RBR) rong>proteinrong> family, and the encoded rong>proteinrong> contains two RING-finger motifs and an in between RING fingers motif. This rong>proteinrong> is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting rong>proteinrong> of alpha synuclein in neurons. The encoded rong>proteinrong> may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 7

Predicted to enable G-rong>proteinrong> beta-subunit binding activity. Predicted to be involved in G rong>proteinrong>-coupled receptor signaling pathway and regulation of adenylate cyclase activity. Predicted to act upstream of or within behavioral fear response; locomotory behavior; and receptor guanylyl cyclase signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 4

Predicted to enable G-rong>proteinrong> beta-subunit binding activity. Involved in negative regulation of cell growth. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 5

G rong>proteinrong>s are trimeric (alpha-beta-gamma) membrane-associated rong>proteinrong>s that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G rong>proteinrong> with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 2

This gene encodes one of the gamma subunits of a guanine nucleotide-binding rong>proteinrong>. Such rong>proteinrong>s are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 3

Guanine nucleotide binding rong>proteinrong>s are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The rong>proteinrong> encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 8

Predicted to enable G-rong>proteinrong> beta-subunit binding activity. Predicted to be involved in G rong>proteinrong>-coupled receptor signaling pathway. Predicted to act upstream of or within cellular response to pheromone; nose development; and social behavior. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-rong>proteinrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

double homeobox rong>proteinrong> 4-like rong>proteinrong> 4

VAMP (vesicle-associated membrane rong>proteinrong>)-associated rong>proteinrong> B and C

The rong>proteinrong> encoded by this gene is a type IV membrane rong>proteinrong> found in plasma and intracellular vesicle membranes. The encoded rong>proteinrong> is found as a homodimer and as a heterodimer with VAPA. This rong>proteinrong> also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

VAMP (vesicle-associated membrane rong>proteinrong>)-associated rong>proteinrong> A, 33kDa

The rong>proteinrong> encoded by this gene is a type IV membrane rong>proteinrong>. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This rong>proteinrong> may function in vesicle trafficking, membrane fusion, rong>proteinrong> complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

S-phase kinase-associated rong>proteinrong> 2, E3 ubiquitin rong>proteinrong> ligase

This gene encodes a member of the F-box rong>proteinrong> family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box rong>proteinrong>s constitute one of the four subunits of ubiquitin rong>proteinrong> ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box rong>proteinrong>s are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different rong>proteinrong>-rong>proteinrong> interaction modules or no recognizable motifs. The rong>proteinrong> encoded by this gene belongs to the Fbls class; in addition to an F-box, this rong>proteinrong> contains 10 tandem leucine-rich repeats. This rong>proteinrong> is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated rong>proteinrong> 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]

T-complex rong>proteinrong> 11 X-linked rong>proteinrong> 2-like

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

PTPRF interacting rong>proteinrong>, binding rong>proteinrong> 1 (liprin beta 1)

The rong>proteinrong> encoded by this gene is a member of the LAR rong>proteinrong>-tyrosine phosphatase-interacting rong>proteinrong> (liprin) family. Liprins interact with members of LAR family of transmembrane rong>proteinrong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent rong>proteinrong>s that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This rong>proteinrong> was found to interact with S100A4, a calcium-binding rong>proteinrong> related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this rong>proteinrong> by rong>proteinrong> kinase C and rong>proteinrong> kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

PTPRF interacting rong>proteinrong>, binding rong>proteinrong> 2 (liprin beta 2)

This gene encodes a member of the LAR rong>proteinrong>-tyrosine phosphatase-interacting rong>proteinrong> (liprin) family. The encoded rong>proteinrong> is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR rong>proteinrong>-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]

mitogen-activated rong>proteinrong> kinase 1 interacting rong>proteinrong> 1-like pseudogene

lymphocyte cytosolic rong>proteinrong> 2 (SH2 domain containing leukocyte rong>proteinrong> of 76kDa)

This gene encodes an adapter rong>proteinrong> that acts as a substrate of the T cell antigen receptor (TCR)-activated rong>proteinrong> tyrosine kinase pathway. The encoded rong>proteinrong> associates with growth factor receptor bound rong>proteinrong> 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar rong>proteinrong> in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), q polypeptide pseudogene 1

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse rong>proteinrong> known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This rong>proteinrong> has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This rong>proteinrong> also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 2

This gene encodes a scaffold rong>proteinrong> that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This rong>proteinrong> has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 3

The rong>proteinrong> encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this rong>proteinrong> may interact with, and regulate the activity of numerous rong>proteinrong> kinases of the JNK signaling pathway, and thus function as a scaffold rong>proteinrong> in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene 1

putative paraneoplastic antigen-like rong>proteinrong> 6B-like rong>proteinrong> LOC649238

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta 5

Heterotrimeric guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which integrate signals between receptors and effector rong>proteinrong>s, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 4

Heterotrimeric guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which integrate signals between receptors and effector rong>proteinrong>s, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 1

Heterotrimeric guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which integrate signals between receptors and effector rong>proteinrong>s, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 3

Heterotrimeric guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which integrate signals between receptors and effector rong>proteinrong>s, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G rong>proteinrong> beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 2

Heterotrimeric guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s), which integrate signals between receptors and effector rong>proteinrong>s, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 2

Enables translation repressor activity. Involved in negative regulation of translational initiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1

The rong>proteinrong> encoded by this gene interacts with poly(A)-binding rong>proteinrong> and with the cap-binding complex eIF4A. It is involved in translational initiation and rong>proteinrong> biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

nuclear fragile X mental retardation rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

G rong>proteinrong>-coupled receptor associated sorting rong>proteinrong> 2

The rong>proteinrong> encoded by this gene is a member of a family that regulates the activity of G rong>proteinrong>-coupled receptors (GPCRs). The encoded rong>proteinrong> has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same rong>proteinrong> have been found for this gene. [provided by RefSeq, May 2010]

G rong>proteinrong>-coupled receptor associated sorting rong>proteinrong> 1

This gene encodes a member of the GPRASP (G rong>proteinrong>-coupled receptor associated sorting rong>proteinrong>) family. The rong>proteinrong> may modulate lysosomal sorting and functional down-regulation of a variety of G-rong>proteinrong> coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting rong>proteinrong> include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same rong>proteinrong> have been identified. [provided by RefSeq, May 2010]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha inhibiting activity polypeptide 2 pseudogene 2

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha inhibiting activity polypeptide 2 pseudogene 1

tumor rong>proteinrong> p53 binding rong>proteinrong> 2 pseudogene 1

ring finger rong>proteinrong> 138, E3 ubiquitin rong>proteinrong> ligase pseudogene 2

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 12-like

mitogen-activated rong>proteinrong> kinase kinase kinase 1, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded rong>proteinrong> is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other rong>proteinrong>s. This rong>proteinrong> has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

amyloid beta precursor rong>proteinrong> (cytoplasmic tail) binding rong>proteinrong> 2

The rong>proteinrong> encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor rong>proteinrong> transport and/or processing. The beta-amyloid precursor rong>proteinrong> is a cell surface rong>proteinrong> with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded rong>proteinrong> may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

receptor (G rong>proteinrong>-coupled) activity modifying rong>proteinrong> 1

The rong>proteinrong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain rong>proteinrong>s, called receptor (calcitonin) activity modifying rong>proteinrong>s (RAMPs). RAMPs are type I transmembrane rong>proteinrong>s with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP1) rong>proteinrong>, CRLR functions as a CGRP receptor. The RAMP1 rong>proteinrong> is involved in the terminal glycosylation, maturation, and presentation of the CGRP receptor to the cell surface. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

receptor (G rong>proteinrong>-coupled) activity modifying rong>proteinrong> 3

The rong>proteinrong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain rong>proteinrong>s, called receptor (calcitonin) activity modifying rong>proteinrong>s (RAMPs). RAMPs are type I transmembrane rong>proteinrong>s with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP3) rong>proteinrong>, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]

receptor (G rong>proteinrong>-coupled) activity modifying rong>proteinrong> 2

The rong>proteinrong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain rong>proteinrong>s, called receptor (calcitonin) activity modifying rong>proteinrong>s (RAMPs). RAMPs are type I transmembrane rong>proteinrong>s with an extracellular N terminus and a cytoplasmic C terminus. RAMPs are required to transport calcitonin-receptor-like receptor (CRLR) to the plasma membrane. CRLR, a receptor with seven transmembrane domains, can function as either a calcitonin-gene-related peptide (CGRP) receptor or an adrenomedullin receptor, depending on which members of the RAMP family are expressed. In the presence of this (RAMP2) rong>proteinrong>, CRLR functions as an adrenomedullin receptor. The RAMP2 rong>proteinrong> is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]

tumor rong>proteinrong> p53 inducible nuclear rong>proteinrong> 1

Predicted to enable antioxidant activity. Involved in autophagic cell death; positive regulation of DNA-templated transcription; and positive regulation of autophagy. Located in autophagosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

tumor rong>proteinrong> p53 inducible nuclear rong>proteinrong> 2

The rong>proteinrong> encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded rong>proteinrong> can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this rong>proteinrong> serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]

ring finger rong>proteinrong> 34, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene contains a RINF finger, a motif known to be involved in rong>proteinrong>-rong>proteinrong> and rong>proteinrong>-DNA interactions. This rong>proteinrong> interacts with DNAJA3/hTid-1, which is a DnaJ rong>proteinrong> reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this rong>proteinrong>. This rong>proteinrong> can be cleaved by caspase-3 during the induction of apoptosis. This rong>proteinrong> also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

tumor rong>proteinrong> p53 pathway corepressor 1 (non-rong>proteinrong> coding)

Predicted to act upstream of or within negative regulation of gene expression. Predicted to be part of ribonucleorong>proteinrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

S-phase kinase-associated rong>proteinrong> 2, E3 ubiquitin rong>proteinrong> ligase pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

ring finger rong>proteinrong> 138, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct rong>proteinrong>s and known to be involved in rong>proteinrong>-DNA and rong>proteinrong>-rong>proteinrong> interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), q polypeptide

This locus encodes a guanine nucleotide-binding rong>proteinrong>. The encoded rong>proteinrong>, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha z polypeptide

The rong>proteinrong> encoded by this gene is a member of a G rong>proteinrong> subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded rong>proteinrong> may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha activating activity polypeptide, olfactory type

This gene encodes a stimulatory G rong>proteinrong> alpha subunit which mediates odorant signaling in the olfactory epithelium. This rong>proteinrong> couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

ring finger rong>proteinrong> 8, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene contains a RING finger motif and an FHA domain. This rong>proteinrong> has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear rong>proteinrong>s. This rong>proteinrong> is also known to play a role in the DNA damage response and depletion of this rong>proteinrong> causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

ring finger rong>proteinrong> 5, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene contains a RING finger, which is a motif known to be involved in rong>proteinrong>-rong>proteinrong> interactions. This rong>proteinrong> is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]

transmembrane rong>proteinrong> 129, E3 ubiquitin rong>proteinrong> ligase

Enables ubiquitin rong>proteinrong> ligase activity. Involved in rong>proteinrong> polyubiquitination; retrograde rong>proteinrong> transport, ER to cytosol; and ubiquitin-dependent rong>proteinrong> catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

ring finger rong>proteinrong> 5, E3 ubiquitin rong>proteinrong> ligase pseudogene 1

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 10

Predicted to enable G-rong>proteinrong> beta-subunit binding activity. Predicted to be involved in G rong>proteinrong>-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-rong>proteinrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 11

This gene is a member of the guanine nucleotide-binding rong>proteinrong> (G rong>proteinrong>) gamma family and encodes a lipid-anchored, cell membrane rong>proteinrong>. As a member of the heterotrimeric G rong>proteinrong> complex, this rong>proteinrong> plays a role in this transmembrane signaling system. This rong>proteinrong> is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 12

Enables PDZ domain binding activity. Predicted to be involved in G rong>proteinrong>-coupled receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 13

Heterotrimeric G rong>proteinrong>s, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G rong>proteinrong>-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]

ELK3, ETS-domain rong>proteinrong> (SRF accessory rong>proteinrong> 2)

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. rong>Proteinrong>s in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This rong>proteinrong> is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

ELK4, ETS-domain rong>proteinrong> (SRF accessory rong>proteinrong> 1)

This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. rong>Proteinrong>s of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The rong>proteinrong> encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha activating activity polypeptide O

The rong>proteinrong> encoded by this gene represents the alpha subunit of the Go heterotrimeric G-rong>proteinrong> signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha transducing activity polypeptide 1

Transducin is a 3-subunit guanine nucleotide-binding rong>proteinrong> (G rong>proteinrong>) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same rong>proteinrong>, have been identified. [provided by RefSeq, Feb 2009]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding rong>proteinrong> (G rong>proteinrong>) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 2B

Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding rong>proteinrong> (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding rong>proteinrong>s regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]

STIP1 homology and U-box containing rong>proteinrong> 1, E3 ubiquitin rong>proteinrong> ligase pseudogene

CMT1A duplicated region transcript 15 rong>proteinrong>-like rong>proteinrong>

mitogen-activated rong>proteinrong> kinase-activated rong>proteinrong> kinase 2 pseudogene

heterochromatin rong>proteinrong> 1, binding rong>proteinrong> 3

Enables DNA binding activity and nucleosome binding activity. Involved in several processes, including cellular response to hypoxia; heterochromatin organization; and regulation of nucleus size. Located in chromosome and nuclear speck. [provided by Alliance of Genome Resources, Mar 2025]

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

ring finger rong>proteinrong> 41, E3 ubiquitin rong>proteinrong> ligase

This gene encodes an E3 ubiquitin ligase. The encoded rong>proteinrong> plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

double homeobox rong>proteinrong> 4-like rong>proteinrong> 4

ribosomal rong>proteinrong> S19 binding rong>proteinrong> 1

Enables enzyme binding activity. Involved in ribosomal small subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. Part of small-subunit processome. [provided by Alliance of Genome Resources, Mar 2025]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

ring finger rong>proteinrong> 168, E3 ubiquitin rong>proteinrong> ligase

This gene encodes an E3 ubiquitin ligase rong>proteinrong> that contains a RING finger, a motif present in a variety of functionally distinct rong>proteinrong>s and known to be involved in rong>proteinrong>-DNA and rong>proteinrong>-rong>proteinrong> interactions. The rong>proteinrong> is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]

zinc finger rong>proteinrong> interacting with K rong>proteinrong> 1 pseudogene 1

GTPase activating rong>proteinrong> (SH3 domain) binding rong>proteinrong> 2

Enables molecular condensate scaffold activity. Involved in positive regulation of stress granule assembly; rong>proteinrong> homooligomerization; and stress granule assembly. Located in cytoplasmic stress granule and cytosol. [provided by Alliance of Genome Resources, Mar 2025]

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 2

The rong>proteinrong> encoded by this gene is a member of the LAR rong>proteinrong>-tyrosine phosphatase-interacting rong>proteinrong> (liprin) family. Liprins interact with members of LAR family of transmembrane rong>proteinrong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent rong>proteinrong>s that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This rong>proteinrong> has been shown to bind the calcium/calmodulin-dependent serine rong>proteinrong> kinase (MAGUK family) rong>proteinrong> (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 3

The rong>proteinrong> encoded by this gene is a member of the LAR rong>proteinrong>-tyrosine phosphatase-interacting rong>proteinrong> (liprin) family. Liprins interact with members of LAR family of transmembrane rong>proteinrong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family rong>proteinrong> has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]

rong>proteinrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting rong>proteinrong> (liprin), alpha 1

The rong>proteinrong> encoded by this gene is a member of the LAR rong>proteinrong>-tyrosine phosphatase-interacting rong>proteinrong> (liprin) family. Liprins interact with members of LAR family of transmembrane rong>proteinrong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This rong>proteinrong> binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

regulator of G-rong>proteinrong> signaling 7 binding rong>proteinrong>

This gene encodes a rong>proteinrong> that binds to all members of the R7 subfamily of regulators of G rong>proteinrong> signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded rong>proteinrong> could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the rong>proteinrong> to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

ligand of numb-rong>proteinrong> X 1, E3 ubiquitin rong>proteinrong> ligase

This gene encodes a membrane-bound rong>proteinrong> that is involved in signal transduction and rong>proteinrong> interactions. The encoded product is an E3 ubiquitin-rong>proteinrong> ligase, which mediates ubiquitination and subsequent proteasomal degradation of rong>proteinrong>s containing phosphotyrosine binding (PTB) domains. This rong>proteinrong> may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]

NGFI-A binding rong>proteinrong> 1 (EGR1 binding rong>proteinrong> 1)

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

NGFI-A binding rong>proteinrong> 2 (EGR1 binding rong>proteinrong> 2)

This gene encodes a member of the family of NGFI-A binding (NAB) rong>proteinrong>s, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB rong>proteinrong>s can homo- or hetero-multimerize with other EGR or NAB rong>proteinrong>s through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded rong>proteinrong> is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 10 pseudogene

mitogen-activated rong>proteinrong> kinase-activated rong>proteinrong> kinase 5 pseudogene 1

cyclin B1 interacting rong>proteinrong> 1, E3 ubiquitin rong>proteinrong> ligase

HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]

cysteine and glycine-rich rong>proteinrong> 3 (cardiac LIM rong>proteinrong>)

This gene encodes a member of the CSRP family of LIM domain rong>proteinrong>s, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this rong>proteinrong> is found in a group of rong>proteinrong>s with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same rong>proteinrong>, have been found for this gene. [provided by RefSeq, Jul 2008]

serpin peptidase inhibitor, clade H (heat shock rong>proteinrong> 47), member 1, (collagen binding rong>proteinrong> 1)

This gene encodes a member of the serpin superfamily of serine rong>proteinrong>ase inhibitors. The encoded rong>proteinrong> is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded rong>proteinrong> have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. 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, May 2011]

class E vacuolar rong>proteinrong>-sorting machinery rong>proteinrong> hse1-like

regulator of G rong>proteinrong> signaling 9 binding rong>proteinrong>

The rong>proteinrong> encoded by this gene functions as a regulator of G rong>proteinrong>-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This rong>proteinrong> is associated with a heterotetrameric complex, specifically interacting with the regulator of G-rong>proteinrong> signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]

double homeobox rong>proteinrong> 4-like rong>proteinrong> 4

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma 10 pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha inhibiting activity polypeptide 2

The rong>proteinrong> encoded by this gene is an alpha subunit of guanine nucleotide binding rong>proteinrong>s (G rong>proteinrong>s). The encoded rong>proteinrong> contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha inhibiting activity polypeptide 3

Guanine nucleotide-binding rong>proteinrong>s (G rong>proteinrong>s) are involved as modulators or transducers in various transmembrane signaling pathways. G rong>proteinrong>s are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G rong>proteinrong>-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha inhibiting activity polypeptide 1

Guanine nucleotide binding rong>proteinrong>s are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other rong>proteinrong>s. The rong>proteinrong> encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded rong>proteinrong> is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

mitogen-activated rong>proteinrong> kinase associated rong>proteinrong> 1

This gene encodes a rong>proteinrong> that is highly similar to the yeast SIN1 rong>proteinrong>, a stress-activated rong>proteinrong> kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]

ring finger rong>proteinrong> 40, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene contains a RING finger, a motif known to be involved in rong>proteinrong>-rong>proteinrong> and rong>proteinrong>-DNA interactions. This rong>proteinrong> was reported to interact with the tumor suppressor rong>proteinrong> RB1. Studies of the rat counterpart suggested that this rong>proteinrong> may function as an E3 ubiquitin-rong>proteinrong> ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 2-like 1 pseudogene

double homeobox rong>proteinrong> 4-like rong>proteinrong> 4

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

ring finger rong>proteinrong> 20, E3 ubiquitin rong>proteinrong> ligase

The rong>proteinrong> encoded by this gene shares similarity with BRE1 of S. cerevisiae. The rong>proteinrong> encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This rong>proteinrong> acts as a putative tumor suppressor and positively regulates the p53 tumor suppressor as well as numerous histone H2A and H2B genes. In contrast, this rong>proteinrong> also suppresses the expression of several protooncogenes and growth-related genes, including many genes that are induced by epidermal growth factor. This gene selectively suppresses the expression of some genes by interfering with chromatin recruitment of transcription elongation factor SII (TFIIS). [provided by RefSeq, Feb 2012]

zinc finger rong>proteinrong> interacting with K rong>proteinrong> 1

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

GTPase activating rong>proteinrong> (SH3 domain) binding rong>proteinrong> 1 pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), alpha 13 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

mitogen-activated rong>proteinrong> kinase 8 interacting rong>proteinrong> 1 pseudogene

valosin containing rong>proteinrong> (p97)/p47 complex interacting rong>proteinrong> 1

Enables cysteine-type deubiquitinase activity. Involved in rong>proteinrong> deubiquitination; rong>proteinrong>-DNA covalent cross-linking repair; and regulation of rong>proteinrong> localization to chromatin. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa rong>proteinrong>-interacting rong>proteinrong> 3 pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 1-like

This gene encodes a G-rong>proteinrong> beta-subunit-like polypeptide which is a member of the WD repeat rong>proteinrong> family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multirong>proteinrong> complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This rong>proteinrong> contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

heat shock 70kDa rong>proteinrong> 5 (glucose-regulated rong>proteinrong>, 78kDa)

The rong>proteinrong> encoded by this gene is a member of the heat shock rong>proteinrong> 70 (HSP70) family. This rong>proteinrong> localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding and assembly of rong>proteinrong>s in the ER and is a master regulator of ER homeostasis. During cellular stress, as during viral infection or tumorogenesis, this rong>proteinrong> interacts with the transmembrane stress sensor rong>proteinrong>s PERK (rong>proteinrong> kinase R-like endoplasmic reticulum kinase), IRE1 (inositol-requiring kinase 1), and ATF6 (activating transcription factor 6) where it acts as a repressor of the unfolded rong>proteinrong> response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this rong>proteinrong> to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this rong>proteinrong> may facilitate viral attachment and entry to host cells. This gene is a therapeutic target for the treatment of coronavirus diseases and chemoresistant cancers. [provided by RefSeq, Jul 2020]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 2-like 1 pseudogene

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), beta polypeptide 2-like 1 pseudogene

heat shock 70kDa rong>proteinrong> 5 (glucose-regulated rong>proteinrong>, 78kDa) pseudogene

adaptor-related rong>proteinrong> complex 1 associated regulatory rong>proteinrong>

Enables AP-1 adaptor complex binding activity and kinesin binding activity. Involved in negative regulation of receptor recycling and vesicle targeting, trans-Golgi to endosome. Acts upstream of or within negative regulation of substrate adhesion-dependent cell spreading. Located in Golgi apparatus and transport vesicle. [provided by Alliance of Genome Resources, Mar 2025]

poly(A) binding rong>proteinrong> interacting rong>proteinrong> 1 pseudogene

NGFI-A binding rong>proteinrong> 1 (EGR1 binding rong>proteinrong> 1) pseudogene

STIP1 homology and U-box containing rong>proteinrong> 1, E3 ubiquitin rong>proteinrong> ligase

This gene encodes a rong>proteinrong> containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded rong>proteinrong> binds to and ubiquitinates shock cognate 71 kDa rong>proteinrong> (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]

TYRO rong>proteinrong> tyrosine kinase binding rong>proteinrong>

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded rong>proteinrong> may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycorong>proteinrong>s and may act as an activating signal transduction element. This rong>proteinrong> may bind zeta-chain (TCR) associated rong>proteinrong> kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma transducing activity polypeptide 2

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling rong>proteinrong>s. The encoded rong>proteinrong> is thought to play a crucial role in cone phototransduction. It belongs to the G rong>proteinrong> gamma family and localized specifically in cones. Several transcript variants encoding the same rong>proteinrong> have been found for this gene. [provided by RefSeq, Nov 2010]

guanine nucleotide binding rong>proteinrong> (G rong>proteinrong>), gamma transducing activity polypeptide 1

This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding rong>proteinrong> (G rong>proteinrong>) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [provided by RefSeq, Jul 2016]

TEPSIN adaptor related rong>proteinrong> complex 4 accessory rong>proteinrong>

Located in coated vesicle membrane and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Mar 2025]

G rong>proteinrong>-coupled receptor associated sorting rong>proteinrong> family member 3

This gene is a member of a gene family which encodes rong>proteinrong>s with a basic helix-loop-helix domain. Other members of this gene family encode rong>proteinrong>s which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding rong>proteinrong>s. The coding region of this gene is located entirely within the terminal exon. The encoded rong>proteinrong> may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same rong>proteinrong>, have been identified. [provided by RefSeq, Sep 2011]

COMM domain-containing rong>proteinrong> 6-like

charged multivesicular body rong>proteinrong> 1B

CHMP1B belongs to the chromatin-modifying rong>proteinrong>/charged multivesicular body rong>proteinrong> (CHMP) family. These rong>proteinrong>s are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor rong>proteinrong>s and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

ribosomal rong>proteinrong> L7a pseudogene

nuclear speckle splicing regulatory rong>proteinrong> 1

Enables mRNA binding activity. Involved in developmental process and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of ribonucleorong>proteinrong> complex. [provided by Alliance of Genome Resources, Mar 2025]

long intergenic non-rong>proteinrong> coding RNA 1221

ribosomal rong>proteinrong> S4X pseudogene 3

ribosomal rong>proteinrong> S4X pseudogene 1

ribosomal rong>proteinrong> S4X pseudogene 6

ribosomal rong>proteinrong> S4X pseudogene 7

ribosomal rong>proteinrong> S4X pseudogene 4

BCL2-related rong>proteinrong> A1

This gene encodes a member of the BCL-2 rong>proteinrong> family. The rong>proteinrong>s of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The rong>proteinrong> encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ribosomal rong>proteinrong> S4X pseudogene 8

ribosomal rong>proteinrong> S4X pseudogene 9

probable ribosome biogenesis rong>proteinrong> RLP24 pseudogene

CDC28 rong>proteinrong> kinase regulatory subunit 1B

CKS1B rong>proteinrong> 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 rong>proteinrong>. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a rong>proteinrong>. [provided by RefSeq, Sep 2008]

ribosomal rong>proteinrong> L31 pseudogene 13

cartilage associated rong>proteinrong>

The rong>proteinrong> encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded rong>proteinrong> is a scaffolding rong>proteinrong> that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]

Helicobacter pylori responsive 1 (non-rong>proteinrong> coding)

cytoplasmic polyadenylation element binding rong>proteinrong> 4

Enables RNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; negative regulation of cytoplasmic translation; and response to ischemia. Located in cytoplasm and nucleus. Biomarker of liver cirrhosis; portal hypertension; and primary biliary cholangitis. [provided by Alliance of Genome Resources, Mar 2025]

cytoplasmic polyadenylation element binding rong>proteinrong> 1

This gene encodes a member of the cytoplasmic polyadenylation element binding rong>proteinrong> family. This highly conserved rong>proteinrong> binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded rong>proteinrong> functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

cytoplasmic polyadenylation element binding rong>proteinrong> 3

Enables mRNA 3'-UTR binding activity and translation factor activity, RNA binding. Involved in cellular response to amino acid stimulus and regulation of gene expression. Located in several cellular components, including cytosol; midbody; and nucleoplasm. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Mar 2025]

cytoplasmic polyadenylation element binding rong>proteinrong> 2

The rong>proteinrong> encoded by this gene is highly similar to cytoplasmic polyadenylation element binding rong>proteinrong> (CPEB), an mRNA-binding rong>proteinrong> that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this rong>proteinrong> in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

zinc finger rong>proteinrong> 717-like

UPF0607 rong>proteinrong> ENSP00000381514-like

long intergenic non-rong>proteinrong> coding RNA 1227

SERPINE1 mRNA binding rong>proteinrong> 1 pseudogene

polled intersex syndrome regulated transcript 1 (non-rong>proteinrong> coding RNA)