Harmonizome 3.0

From Hub ong>Proteinong>s

Sets of ong>proteinong>s interacting with hub ong>proteinong>s aggregated from data

From Nuclear Receptor Signaling Atlas

ong>Proteinong>-ong>proteinong> interactions inferred from membership in complexes

From Pathway Commons

ong>Proteinong>-ong>proteinong> interactions from low-throughput or high-throughput studies aggregated by Pathway Commons from the following databases: Reactome, NCI Pathways, PhosphoSite, HumanCyc, HPRD, PANTHER, DIP, BioGRID, IntAct, BIND, Transfac, MiRTarBase, Drugbank, Recon X, Comparative Toxicogenomics Database, and KEGG

From Virus MINT

Interactions between viral and human ong>proteinong>s manually curated from literature

From COMPARTMENTS

ong>Proteinong> subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

ong>Proteinong> subcellular localization evidence scores by integrating experimental data

From COMPARTMENTS

Gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

From CORUM

ong>Proteinong>s participating in complexes by manual literature curation

From Guide to Pharmacology

ong>Proteinong> ligand-receptor interactions curated by experts

From Human ong>Proteinong> Atlas

Semiquantitative ong>proteinong> expression profiles for tissues

From Human Proteome Map

ong>Proteinong> expression profiles for tissues and cell types

From InterPro

ong>Proteinong> domains predicted for gene products based on sequence similarity to known domain signatures

From LOCATE

Subcellular localization of ong>proteinong>s from low-throughput or high-throughput ong>proteinong> localization assays

From Nuclear Receptor Signaling Atlas

ong>Proteinong>s identified in complexes isolated from cultured cells

From Proteomics Database

ong>Proteinong> expression profiles for tissues and cell types reprocessed from many proteomics datasets

From SILAC Phosphoproteomics

Phosphorylation levels of ong>proteinong>s in cell lines following ligand treatment

From TISSUES

ong>Proteinong> tissue expression evidence scores by manual literature curation

From TISSUES

ong>Proteinong> tissue expression evidence scores by integrating experimental data

From TISSUES

Gene-tissue co-occurrence scores from text-mining biomedical abstracts

From Virus MINT

Interactions between viruses and human ong>proteinong>s manually curated from literature

From LOCATE

Subcellular localization of ong>proteinong>s by sequence similarity to localization sequences

From TISSUES

ong>Proteinong> tissue expression evidence scores by manual literature curation

From TISSUES

ong>Proteinong> tissue expression evidence scores by integrating experimental data

From TISSUES

Gene-tissue co-occurrence scores from text-mining biomedical abstracts

From COMPARTMENTS

ong>Proteinong> subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

ong>Proteinong> subcellular localization evidence scores by integrating experimental data

From COMPARTMENTS

Gene-cellular compartment co-occurrence scores from text-mining biomedical abstracts

From Cell Maps for AI

ong>Proteinong> localization assemblies constructed from integrating AP-MS biomolecular interaction and IF imaging data

From Human ong>Proteinong> Atlas

RNA-seq gene expression profiles for cell lines from HPA

From Human ong>Proteinong> Atlas

RNA-seq gene expression profiles for tissues from HPA

From Human ong>Proteinong> Atlas

RNA-seq gene expression profiles for tissue samples from HPA

ong>centromereong> ong>proteinong> J-like

ong>centromereong> ong>proteinong> V pseudogene 3

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

ong>centromereong> ong>proteinong> V pseudogene 2

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

ong>centromereong> ong>proteinong> V pseudogene 1

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

inner ong>centromereong> ong>proteinong> antigens 135/155kDa

In mammalian cells, 2 broad groups of ong>centromereong>-interacting ong>proteinong>s have been described: constitutively binding ong>centromereong> ong>proteinong>s and 'passenger,' or transiently interacting, ong>proteinong>s (reviewed by Choo, 1997). The constitutive ong>proteinong>s include CENPA (ong>centromereong> ong>proteinong> A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger ong>proteinong>s' encompasses a broad collection of ong>proteinong>s that localize to the ong>centromereong> 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 ong>centromereong> ong>proteinong>s (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger ong>proteinong> group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at ong>centromereong>s as the cell cycle progresses into mid-metaphase. During telophase, the ong>proteinong>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]

ong>centromereong> ong>proteinong> C pseudogene 1

ong>centromereong> ong>proteinong> O

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

ong>centromereong> ong>proteinong> N

The ong>proteinong> 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 ong>proteinong>s to the ong>centromereong>. Pseudogenes of this gene are located on chromosome 2. Alternative splicing results in multiple transcript variants that encode different ong>proteinong> isoforms. [provided by RefSeq, Jul 2012]

ong>centromereong> ong>proteinong> M

The ong>proteinong> encoded by this gene is an inner ong>proteinong> of the kinetochore, the multi-ong>proteinong> complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive ong>centromereong>-associated network ong>proteinong> group, whose members interact with outer kinetochore ong>proteinong>s and help to maintain ong>centromereong> identity at each cell division cycle. The ong>proteinong> is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive ong>centromereong>-associated network ong>proteinong>, 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]

ong>centromereong> ong>proteinong> L

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

ong>centromereong> ong>proteinong> K

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

ong>centromereong> ong>proteinong> J

This gene encodes a ong>proteinong> that belongs to the ong>centromereong> ong>proteinong> family. During cell division, this ong>proteinong> 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 ong>proteinong> 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 ong>proteinong>. 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]

ong>centromereong> ong>proteinong> I

This gene encodes a ong>centromereong> ong>proteinong> 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 ong>proteinong> regulates the recruitment of kinetochore-associated ong>proteinong>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]

ong>centromereong> ong>proteinong> H

ong>Centromereong> and kinetochore ong>proteinong>s play a critical role in ong>centromereong> structure, kinetochore formation, and sister chromatid separation. The ong>proteinong> encoded by this gene colocalizes with inner kinetochore plate ong>proteinong>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 ong>proteinong> can bind to itself, as well as to CENP-A, CENP-B or CENP-C. Multimers of the ong>proteinong> localize constitutively to the inner kinetochore plate and play an important role in the organization and function of the active ong>centromereong>-kinetochore complex. [provided by RefSeq, Jul 2008]

ong>centromereong> ong>proteinong> F, 350/400kDa

This gene encodes a ong>proteinong> that associates with the ong>centromereong>-kinetochore complex. The ong>proteinong> is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the ong>proteinong> 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 ong>proteinong> 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 ong>proteinong> have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

ong>centromereong> ong>proteinong> E, 312kDa

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

ong>centromereong> ong>proteinong> W

Predicted to enable DNA binding activity and ong>proteinong> 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]

ong>centromereong> ong>proteinong> V

Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. Involved in several processes, including ong>centromereong> 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]

ong>centromereong> ong>proteinong> U

The ong>centromereong> 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 ong>centromereong>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 ong>centromereong> assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

ong>centromereong> ong>proteinong> T

The ong>centromereong> 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 ong>centromereong>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 ong>centromereong> assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

ong>centromereong> ong>proteinong> Q

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

ong>centromereong> ong>proteinong> L pseudogene

ong>centromereong> ong>proteinong> U pseudogene 1

ong>centromereong> ong>proteinong> U pseudogene 2

ong>centromereong> ong>proteinong> N pseudogene

ong>centromereong> ong>proteinong> J-like

ong>centromereong> ong>proteinong> I pseudogene 1

ong>centromereong> ong>proteinong> C

ong>Centromereong> ong>proteinong> C 1 is a ong>centromereong> autoantigen and a component of the inner kinetochore plate. The ong>proteinong> 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]

ong>centromereong> ong>proteinong> B, 80kDa

This gene product is a highly conserved ong>proteinong> that facilitates ong>centromereong> formation. It is a DNA-binding ong>proteinong> 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 ong>proteinong> is proposed to play an important role in the assembly of specific ong>centromereong> structures in interphase nuclei and on mitotic chromosomes. It is also considered a major ong>centromereong> autoantigen recognized by sera from patients with anti-ong>centromereong> antibodies. [provided by RefSeq, Jul 2008]

ong>centromereong> ong>proteinong> A

ong>Centromereong>s are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a ong>centromereong> ong>proteinong> which contains a histone H3 related histone fold domain that is required for targeting to the ong>centromereong>. ong>Centromereong> ong>proteinong> 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 ong>proteinong> 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]

ong>centromereong> ong>proteinong> P

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

ong>centromereong> ong>proteinong> N pseudogene

ong>centromereong> ong>proteinong> V pseudogene

ong>centromereong> ong>proteinong> 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 ong>proteinong>-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 ong>proteinong> 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]

ong>centromereong> ong>proteinong> 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]

ong>centromereong> ong>proteinong> V like 3

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

ong>centromereong> ong>proteinong> V like 1

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

ong>centromereong> ong>proteinong> V like 2

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

tumor ong>proteinong> p53 inducible ong>proteinong> 3

The ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3-like

heat shock 70kDa ong>proteinong> 5 (glucose-regulated ong>proteinong>, 78kDa) pseudogene

GTPase activating ong>proteinong> (SH3 domain) binding ong>proteinong> 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 ong>proteinong>s and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating ong>proteinong> 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 ong>proteinong> activator (GTPase activating ong>proteinong>) 1

The ong>proteinong> encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating ong>proteinong>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 ong>proteinong> enhances the weak intrinsic GTPase activity of RAS ong>proteinong>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 ong>proteinong> 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]

ong>proteinong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting ong>proteinong> (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 ong>proteinong>-interacting ong>proteinong> 3 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

ligand of numb-ong>proteinong> X 1, E3 ubiquitin ong>proteinong> ligase pseudogene

MYC binding ong>proteinong> 2, E3 ubiquitin ong>proteinong> ligase

This gene encodes an E3 ubiquitin-ong>proteinong> ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of ong>proteinong>s. The encoded ong>proteinong> plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this ong>proteinong> 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 ong>proteinong> kinase-activated ong>proteinong> kinase 5

The ong>proteinong> 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 ong>proteinong> is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock ong>proteinong> 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 ong>proteinong> kinase-activated ong>proteinong> kinase 3

This gene encodes a member of the Ser/Thr ong>proteinong> kinase family. This kinase functions as a mitogen-activated ong>proteinong> kinase (MAP kinase)- activated ong>proteinong> 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 ong>proteinong>. [provided by RefSeq, Sep 2011]

mitogen-activated ong>proteinong> kinase-activated ong>proteinong> kinase 2

This gene encodes a member of the Ser/Thr ong>proteinong> 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 ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 5 pseudogene 4

tumor ong>proteinong> p53 inducible ong>proteinong> 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 ong>proteinong> 128, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene is a type I transmembrane ong>proteinong> that localizes to the endocytic pathway. This ong>proteinong> 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 ong>proteinong> 125, E3 ubiquitin ong>proteinong> 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 ong>proteinong> associates with membranes and is primarily localized to intracellular membrane systems. The encoded ong>proteinong> may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]

mitogen-activated ong>proteinong> kinase 1 interacting ong>proteinong> 1-like

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 10 pseudogene 1

amyloid beta (A4) precursor ong>proteinong>-binding, family B, member 1 interacting ong>proteinong>

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 ong>proteinong> (G ong>proteinong>), gamma 5 pseudogene 1

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 5 pseudogene 3

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 5 pseudogene 2

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 5 pseudogene 5

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

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

tumor ong>proteinong> p53 inducible ong>proteinong> 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]

ong>proteinong> tyrosine phosphatase, receptor type, C-associated ong>proteinong>

The ong>proteinong> encoded by this gene was identified as a transmembrane phosphoong>proteinong> 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 ong>proteinong>. [provided by RefSeq, Jul 2008]

putative ubiquitin-like ong>proteinong> FUBI-like ong>proteinong> ENSP00000310146

mitogen-activated ong>proteinong> kinase binding ong>proteinong> 1

This gene encodes a scaffold ong>proteinong> that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing ong>proteinong> 2) signaling pathways. The encoded ong>proteinong> interacts with another related JNK pathway scaffold ong>proteinong>, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This ong>proteinong> 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 ong>proteinong> cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3 pseudogene

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), beta polypeptide 2-like 1

Enables several functions, including cyclin binding activity; enzyme binding activity; and ong>proteinong> domain specific binding activity. Involved in several processes, including regulation of ong>proteinong> 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 ong>proteinong> p53 binding ong>proteinong> 1

This gene encodes a ong>proteinong> that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This ong>proteinong> 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 ong>proteinong>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 ong>proteinong> p53 binding ong>proteinong> 2

This gene encodes a member of the ASPP (apoptosis-stimulating ong>proteinong> of p53) family of p53 interacting ong>proteinong>s. The ong>proteinong> contains four ankyrin repeats and an SH3 domain involved in ong>proteinong>-ong>proteinong> 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 ong>proteinong>-interacting ong>proteinong> 3 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong>, pseudogene

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha 11 (Gq class) pseudogene

ring finger ong>proteinong> 138, E3 ubiquitin ong>proteinong> ligase pseudogene 1

low density lipoong>proteinong> receptor-related ong>proteinong> associated ong>proteinong> 1

This gene encodes a ong>proteinong> that interacts with the low density lipoong>proteinong> (LDL) receptor-related ong>proteinong> 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 ong>proteinong> 4-like ong>proteinong> 4

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha 14

This gene encodes a member of the guanine nucleotide-binding, or G ong>proteinong> family. G ong>proteinong>s are heterotrimers consisting of alpha, beta and gamma subunits. The encoded ong>proteinong> is a member of the alpha family of G ong>proteinong>s, more specifically the alpha q subfamily of G ong>proteinong>s. The encoded ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), alpha 15 (Gq class)

Enables G ong>proteinong>-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-ong>proteinong> complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

guanine nucleotide binding ong>proteinong> (G ong>proteinong>) alpha 12

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha 13

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha 11 (Gq class)

The ong>proteinong> encoded by this gene belongs to the family of guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which function as modulators or transducers in various transmembrane signaling systems. G ong>proteinong>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]

ong>proteinong> kinase C, delta binding ong>proteinong>

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

tumor ong>proteinong> p53 regulated apoptosis inducing ong>proteinong> 1

This gene is specifically expressed in the thymus, and encodes a ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1

This gene encodes a nuclear RNA binding ong>proteinong> that contains a C2H2 zinc finger motif and a nuclear localization signal. This ong>proteinong> is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This ong>proteinong> interacts with the fragile X mental retardation ong>proteinong> (FMRP), the tumor suppressor ong>proteinong> 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 ong>proteinong> 19A, RBR E3 ubiquitin ong>proteinong> ligase

This gene encodes a member of the ring between ring fingers (RBR) ong>proteinong> family, and the encoded ong>proteinong> contains two RING-finger motifs and an in between RING fingers motif. This ong>proteinong> is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting ong>proteinong> of alpha synuclein in neurons. The encoded ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 7

Predicted to enable G-ong>proteinong> beta-subunit binding activity. Predicted to be involved in G ong>proteinong>-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 ong>proteinong> (G ong>proteinong>), gamma 4

Predicted to enable G-ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 5

G ong>proteinong>s are trimeric (alpha-beta-gamma) membrane-associated ong>proteinong>s that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 2

This gene encodes one of the gamma subunits of a guanine nucleotide-binding ong>proteinong>. Such ong>proteinong>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 ong>proteinong> (G ong>proteinong>), gamma 3

Guanine nucleotide binding ong>proteinong>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 ong>proteinong> encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 8

Predicted to enable G-ong>proteinong> beta-subunit binding activity. Predicted to be involved in G ong>proteinong>-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-ong>proteinong> complex. [provided by Alliance of Genome Resources, Mar 2025]

double homeobox ong>proteinong> 4-like ong>proteinong> 4

VAMP (vesicle-associated membrane ong>proteinong>)-associated ong>proteinong> B and C

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

VAMP (vesicle-associated membrane ong>proteinong>)-associated ong>proteinong> A, 33kDa

The ong>proteinong> encoded by this gene is a type IV membrane ong>proteinong>. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This ong>proteinong> may function in vesicle trafficking, membrane fusion, ong>proteinong> 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 ong>proteinong> 2, E3 ubiquitin ong>proteinong> ligase

This gene encodes a member of the F-box ong>proteinong> family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box ong>proteinong>s constitute one of the four subunits of ubiquitin ong>proteinong> ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box ong>proteinong>s are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different ong>proteinong>-ong>proteinong> interaction modules or no recognizable motifs. The ong>proteinong> encoded by this gene belongs to the Fbls class; in addition to an F-box, this ong>proteinong> contains 10 tandem leucine-rich repeats. This ong>proteinong> 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 ong>proteinong> 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 ong>proteinong> 11 X-linked ong>proteinong> 2-like

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3 pseudogene

PTPRF interacting ong>proteinong>, binding ong>proteinong> 1 (liprin beta 1)

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

PTPRF interacting ong>proteinong>, binding ong>proteinong> 2 (liprin beta 2)

This gene encodes a member of the LAR ong>proteinong>-tyrosine phosphatase-interacting ong>proteinong> (liprin) family. The encoded ong>proteinong> is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR ong>proteinong>-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 ong>proteinong> kinase 1 interacting ong>proteinong> 1-like pseudogene

lymphocyte cytosolic ong>proteinong> 2 (SH2 domain containing leukocyte ong>proteinong> of 76kDa)

This gene encodes an adapter ong>proteinong> that acts as a substrate of the T cell antigen receptor (TCR)-activated ong>proteinong> tyrosine kinase pathway. The encoded ong>proteinong> associates with growth factor receptor bound ong>proteinong> 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), q polypeptide pseudogene 1

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1

This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse ong>proteinong> known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This ong>proteinong> 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 ong>proteinong> 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 ong>proteinong> kinase 8 interacting ong>proteinong> 2

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

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 3

The ong>proteinong> 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 ong>proteinong> may interact with, and regulate the activity of numerous ong>proteinong> kinases of the JNK signaling pathway, and thus function as a scaffold ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene 1

putative paraneoplastic antigen-like ong>proteinong> 6B-like ong>proteinong> LOC649238

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), beta 5

Heterotrimeric guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which integrate signals between receptors and effector ong>proteinong>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 ong>proteinong> (G ong>proteinong>), beta polypeptide 4

Heterotrimeric guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which integrate signals between receptors and effector ong>proteinong>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 ong>proteinong> (G ong>proteinong>), beta polypeptide 1

Heterotrimeric guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which integrate signals between receptors and effector ong>proteinong>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 ong>proteinong> (G ong>proteinong>), beta polypeptide 3

Heterotrimeric guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which integrate signals between receptors and effector ong>proteinong>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 ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), beta polypeptide 2

Heterotrimeric guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s), which integrate signals between receptors and effector ong>proteinong>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 ong>proteinong> interacting ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1

The ong>proteinong> encoded by this gene interacts with poly(A)-binding ong>proteinong> and with the cap-binding complex eIF4A. It is involved in translational initiation and ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene

G ong>proteinong>-coupled receptor associated sorting ong>proteinong> 2

The ong>proteinong> encoded by this gene is a member of a family that regulates the activity of G ong>proteinong>-coupled receptors (GPCRs). The encoded ong>proteinong> 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 ong>proteinong> have been found for this gene. [provided by RefSeq, May 2010]

G ong>proteinong>-coupled receptor associated sorting ong>proteinong> 1

This gene encodes a member of the GPRASP (G ong>proteinong>-coupled receptor associated sorting ong>proteinong>) family. The ong>proteinong> may modulate lysosomal sorting and functional down-regulation of a variety of G-ong>proteinong> coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting ong>proteinong> 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 ong>proteinong> have been identified. [provided by RefSeq, May 2010]

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha inhibiting activity polypeptide 2 pseudogene 2

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha inhibiting activity polypeptide 2 pseudogene 1

tumor ong>proteinong> p53 binding ong>proteinong> 2 pseudogene 1

ring finger ong>proteinong> 138, E3 ubiquitin ong>proteinong> ligase pseudogene 2

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 12-like

mitogen-activated ong>proteinong> kinase kinase kinase 1, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> 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 ong>proteinong> is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other ong>proteinong>s. This ong>proteinong> 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 ong>proteinong> (cytoplasmic tail) binding ong>proteinong> 2

The ong>proteinong> encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor ong>proteinong> transport and/or processing. The beta-amyloid precursor ong>proteinong> is a cell surface ong>proteinong> with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded ong>proteinong> 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 ong>proteinong>-coupled) activity modifying ong>proteinong> 1

The ong>proteinong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain ong>proteinong>s, called receptor (calcitonin) activity modifying ong>proteinong>s (RAMPs). RAMPs are type I transmembrane ong>proteinong>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) ong>proteinong>, CRLR functions as a CGRP receptor. The RAMP1 ong>proteinong> 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 ong>proteinong>-coupled) activity modifying ong>proteinong> 3

The ong>proteinong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain ong>proteinong>s, called receptor (calcitonin) activity modifying ong>proteinong>s (RAMPs). RAMPs are type I transmembrane ong>proteinong>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) ong>proteinong>, CRLR functions as an adrenomedullin receptor. [provided by RefSeq, Jul 2008]

receptor (G ong>proteinong>-coupled) activity modifying ong>proteinong> 2

The ong>proteinong> encoded by this gene is a member of the RAMP family of single-transmembrane-domain ong>proteinong>s, called receptor (calcitonin) activity modifying ong>proteinong>s (RAMPs). RAMPs are type I transmembrane ong>proteinong>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) ong>proteinong>, CRLR functions as an adrenomedullin receptor. The RAMP2 ong>proteinong> is involved in core glycosylation and transportation of adrenomedullin receptor to the cell surface. [provided by RefSeq, Jul 2008]

tumor ong>proteinong> p53 inducible nuclear ong>proteinong> 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 ong>proteinong> p53 inducible nuclear ong>proteinong> 2

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

ring finger ong>proteinong> 34, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene contains a RINF finger, a motif known to be involved in ong>proteinong>-ong>proteinong> and ong>proteinong>-DNA interactions. This ong>proteinong> interacts with DNAJA3/hTid-1, which is a DnaJ ong>proteinong> 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 ong>proteinong>. This ong>proteinong> can be cleaved by caspase-3 during the induction of apoptosis. This ong>proteinong> also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]

tumor ong>proteinong> p53 pathway corepressor 1 (non-ong>proteinong> coding)

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

S-phase kinase-associated ong>proteinong> 2, E3 ubiquitin ong>proteinong> ligase pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

ring finger ong>proteinong> 138, E3 ubiquitin ong>proteinong> ligase

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), q polypeptide

This locus encodes a guanine nucleotide-binding ong>proteinong>. The encoded ong>proteinong>, 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 ong>proteinong> (G ong>proteinong>), alpha z polypeptide

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha activating activity polypeptide, olfactory type

This gene encodes a stimulatory G ong>proteinong> alpha subunit which mediates odorant signaling in the olfactory epithelium. This ong>proteinong> 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 ong>proteinong> 8, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene contains a RING finger motif and an FHA domain. This ong>proteinong> 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 ong>proteinong>s. This ong>proteinong> is also known to play a role in the DNA damage response and depletion of this ong>proteinong> causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

ring finger ong>proteinong> 5, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene contains a RING finger, which is a motif known to be involved in ong>proteinong>-ong>proteinong> interactions. This ong>proteinong> 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 ong>proteinong> 129, E3 ubiquitin ong>proteinong> ligase

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

ring finger ong>proteinong> 5, E3 ubiquitin ong>proteinong> ligase pseudogene 1

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 10

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 11

This gene is a member of the guanine nucleotide-binding ong>proteinong> (G ong>proteinong>) gamma family and encodes a lipid-anchored, cell membrane ong>proteinong>. As a member of the heterotrimeric G ong>proteinong> complex, this ong>proteinong> plays a role in this transmembrane signaling system. This ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 12

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

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 13

Heterotrimeric G ong>proteinong>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 ong>proteinong>-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 ong>proteinong> (SRF accessory ong>proteinong> 2)

This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. ong>Proteinong>s in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This ong>proteinong> 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 ong>proteinong> (SRF accessory ong>proteinong> 1)

This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. ong>Proteinong>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 ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), alpha activating activity polypeptide O

The ong>proteinong> encoded by this gene represents the alpha subunit of the Go heterotrimeric G-ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), alpha transducing activity polypeptide 1

Transducin is a 3-subunit guanine nucleotide-binding ong>proteinong> (G ong>proteinong>) 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 ong>proteinong>, have been identified. [provided by RefSeq, Feb 2009]

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding ong>proteinong> (G ong>proteinong>) 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 2B

Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding ong>proteinong> (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 ong>proteinong>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 ong>proteinong> 1, E3 ubiquitin ong>proteinong> ligase pseudogene

CMT1A duplicated region transcript 15 ong>proteinong>-like ong>proteinong>

mitogen-activated ong>proteinong> kinase-activated ong>proteinong> kinase 2 pseudogene

heterochromatin ong>proteinong> 1, binding ong>proteinong> 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 ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

ring finger ong>proteinong> 41, E3 ubiquitin ong>proteinong> ligase

This gene encodes an E3 ubiquitin ligase. The encoded ong>proteinong> 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 ong>proteinong> 4-like ong>proteinong> 4

ribosomal ong>proteinong> S19 binding ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

ring finger ong>proteinong> 168, E3 ubiquitin ong>proteinong> ligase

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

zinc finger ong>proteinong> interacting with K ong>proteinong> 1 pseudogene 1

GTPase activating ong>proteinong> (SH3 domain) binding ong>proteinong> 2

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

ong>proteinong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting ong>proteinong> (liprin), alpha 2

The ong>proteinong> encoded by this gene is a member of the LAR ong>proteinong>-tyrosine phosphatase-interacting ong>proteinong> (liprin) family. Liprins interact with members of LAR family of transmembrane ong>proteinong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent ong>proteinong>s that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This ong>proteinong> has been shown to bind the calcium/calmodulin-dependent serine ong>proteinong> kinase (MAGUK family) ong>proteinong> (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]

ong>proteinong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting ong>proteinong> (liprin), alpha 3

The ong>proteinong> encoded by this gene is a member of the LAR ong>proteinong>-tyrosine phosphatase-interacting ong>proteinong> (liprin) family. Liprins interact with members of LAR family of transmembrane ong>proteinong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family ong>proteinong> 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]

ong>proteinong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting ong>proteinong> (liprin), alpha 1

The ong>proteinong> encoded by this gene is a member of the LAR ong>proteinong>-tyrosine phosphatase-interacting ong>proteinong> (liprin) family. Liprins interact with members of LAR family of transmembrane ong>proteinong> tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This ong>proteinong> 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-ong>proteinong> signaling 7 binding ong>proteinong>

This gene encodes a ong>proteinong> that binds to all members of the R7 subfamily of regulators of G ong>proteinong> signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded ong>proteinong> could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the ong>proteinong> 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 ong>proteinong>-interacting ong>proteinong> 3 pseudogene

ligand of numb-ong>proteinong> X 1, E3 ubiquitin ong>proteinong> ligase

This gene encodes a membrane-bound ong>proteinong> that is involved in signal transduction and ong>proteinong> interactions. The encoded product is an E3 ubiquitin-ong>proteinong> ligase, which mediates ubiquitination and subsequent proteasomal degradation of ong>proteinong>s containing phosphotyrosine binding (PTB) domains. This ong>proteinong> 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 ong>proteinong> 1 (EGR1 binding ong>proteinong> 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 ong>proteinong> 2 (EGR1 binding ong>proteinong> 2)

This gene encodes a member of the family of NGFI-A binding (NAB) ong>proteinong>s, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB ong>proteinong>s can homo- or hetero-multimerize with other EGR or NAB ong>proteinong>s through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), gamma 10 pseudogene

mitogen-activated ong>proteinong> kinase-activated ong>proteinong> kinase 5 pseudogene 1

cyclin B1 interacting ong>proteinong> 1, E3 ubiquitin ong>proteinong> 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 ong>proteinong> 3 (cardiac LIM ong>proteinong>)

This gene encodes a member of the CSRP family of LIM domain ong>proteinong>s, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this ong>proteinong> is found in a group of ong>proteinong>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 ong>proteinong>, have been found for this gene. [provided by RefSeq, Jul 2008]

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

This gene encodes a member of the serpin superfamily of serine ong>proteinong>ase inhibitors. The encoded ong>proteinong> is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded ong>proteinong> 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 ong>proteinong>-sorting machinery ong>proteinong> hse1-like

regulator of G ong>proteinong> signaling 9 binding ong>proteinong>

The ong>proteinong> encoded by this gene functions as a regulator of G ong>proteinong>-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 ong>proteinong> is associated with a heterotetrameric complex, specifically interacting with the regulator of G-ong>proteinong> 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 ong>proteinong> 4-like ong>proteinong> 4

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), gamma 10 pseudogene

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha inhibiting activity polypeptide 2

The ong>proteinong> encoded by this gene is an alpha subunit of guanine nucleotide binding ong>proteinong>s (G ong>proteinong>s). The encoded ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), alpha inhibiting activity polypeptide 3

Guanine nucleotide-binding ong>proteinong>s (G ong>proteinong>s) are involved as modulators or transducers in various transmembrane signaling pathways. G ong>proteinong>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 ong>proteinong>-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha inhibiting activity polypeptide 1

Guanine nucleotide binding ong>proteinong>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 ong>proteinong>s. The ong>proteinong> encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded ong>proteinong> 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 ong>proteinong> interacting ong>proteinong> 1 pseudogene

mitogen-activated ong>proteinong> kinase associated ong>proteinong> 1

This gene encodes a ong>proteinong> that is highly similar to the yeast SIN1 ong>proteinong>, a stress-activated ong>proteinong> 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 ong>proteinong> 40, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene contains a RING finger, a motif known to be involved in ong>proteinong>-ong>proteinong> and ong>proteinong>-DNA interactions. This ong>proteinong> was reported to interact with the tumor suppressor ong>proteinong> RB1. Studies of the rat counterpart suggested that this ong>proteinong> may function as an E3 ubiquitin-ong>proteinong> 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 ong>proteinong> (G ong>proteinong>), beta polypeptide 2-like 1 pseudogene

double homeobox ong>proteinong> 4-like ong>proteinong> 4

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3 pseudogene

ring finger ong>proteinong> 20, E3 ubiquitin ong>proteinong> ligase

The ong>proteinong> encoded by this gene shares similarity with BRE1 of S. cerevisiae. The ong>proteinong> encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinating histone H2B. This ong>proteinong> 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 ong>proteinong> 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 ong>proteinong> interacting with K ong>proteinong> 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 ong>proteinong> (SH3 domain) binding ong>proteinong> 1 pseudogene

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), alpha 13 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

mitogen-activated ong>proteinong> kinase 8 interacting ong>proteinong> 1 pseudogene

valosin containing ong>proteinong> (p97)/p47 complex interacting ong>proteinong> 1

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

poly(A) binding ong>proteinong> interacting ong>proteinong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa ong>proteinong>-interacting ong>proteinong> 3 pseudogene

guanine nucleotide binding ong>proteinong> (G ong>proteinong>), beta polypeptide 1-like

This gene encodes a G-ong>proteinong> beta-subunit-like polypeptide which is a member of the WD repeat ong>proteinong> 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 multiong>proteinong> complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This ong>proteinong> 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]