Harmonizome 3.0

From Allen Brain Atlas

mRNA expression profiles for 6 adult human brain tissue samples spanning ~300 brain structures

From Allen Brain Atlas

mRNA expression profiles for human brain tissue samples spanning 27 time points and 26 brain structures

From Allen Brain Atlas

mRNA expression profiles for human brain tissue samples spanning 31 time points and 26 brain structures

From Allen Brain Atlas

mRNA expression profiles for 4 human prenatal brain tissue samples spanning 4 time points and ~300 brain structures

From BioGPS

mRNA expression profiles for human tissues and cell types

From Jaspar PWMs

Target genes of human transcription factors predicted using known transcription factor binding site motifs

From Hub <strong>Proteinstrong>s

Sets of <strong>proteinstrong>s interacting with hub <strong>proteinstrong>s aggregated from data

From Nuclear Receptor Signaling Atlas

<strong>Proteinstrong>-<strong>proteinstrong> interactions inferred from membership in complexes

From Pathway Commons

<strong>Proteinstrong>-<strong>proteinstrong> 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 <strong>proteinstrong>s manually curated from literature

From COMPARTMENTS

<strong>Proteinstrong> subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

<strong>Proteinstrong> subcellular localization evidence scores by integrating experimental data

From COMPARTMENTS

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

From CORUM

<strong>Proteinstrong>s participating in complexes by manual literature curation

From Guide to Pharmacology

<strong>Proteinstrong> ligand-receptor interactions curated by experts

From Human <strong>Proteinstrong> Atlas

Semiquantitative <strong>proteinstrong> expression profiles for tissues

From Human Proteome Map

<strong>Proteinstrong> expression profiles for tissues and cell types

From InterPro

<strong>Proteinstrong> domains predicted for gene products based on sequence similarity to known domain signatures

From LOCATE

Subcellular localization of <strong>proteinstrong>s from low-throughput or high-throughput <strong>proteinstrong> localization assays

From Nuclear Receptor Signaling Atlas

<strong>Proteinstrong>s identified in complexes isolated from cultured cells

From Proteomics Database

<strong>Proteinstrong> expression profiles for tissues and cell types reprocessed from many proteomics datasets

From SILAC Phosphoproteomics

Phosphorylation levels of <strong>proteinstrong>s in cell lines following ligand treatment

From TISSUES

<strong>Proteinstrong> tissue expression evidence scores by manual literature curation

From TISSUES

<strong>Proteinstrong> 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 <strong>proteinstrong>s manually curated from literature

From LOCATE

Subcellular localization of <strong>proteinstrong>s by sequence similarity to localization sequences

From TISSUES

<strong>Proteinstrong> tissue expression evidence scores by manual literature curation

From TISSUES

<strong>Proteinstrong> tissue expression evidence scores by integrating experimental data

From TISSUES

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

From COMPARTMENTS

<strong>Proteinstrong> subcellular localization evidence scores by manual literature curation

From COMPARTMENTS

<strong>Proteinstrong> 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

<strong>Proteinstrong> localization assemblies constructed from integrating AP-MS biomolecular interaction and IF imaging data

From Human <strong>Proteinstrong> Atlas

RNA-seq gene expression profiles for cell lines from HPA

From Human <strong>Proteinstrong> Atlas

RNA-seq gene expression profiles for tissues from HPA

From Human <strong>Proteinstrong> Atlas

RNA-seq gene expression profiles for tissue samples from HPA

From Human Metabolome Database

Biomolecular interactions between metabolites and <strong>proteinstrong>s, such as processing enzymes, curated from literature

From Human Phenotype Ontology

Phenotype-causing gene mutations of human phenotypes from disease knowledgebases

From The Human BioMolecular Atlas Program

Gene-cell type annotations from integrated reference scRNA-seq gene expression profiles

From The Human BioMolecular Atlas Program

Anatomical structure and cell type biomarker annotations from the HuBMAP ASCT+B tables

From The Human BioMolecular Atlas Program

Anatomical structure and cell type biomarker annotations from the HuBMAP ASCT+B tables, augmented with RNA-seq coexpression data from ARCHS4

tumor <strong>proteinstrong> p53 inducible <strong>proteinstrong> 3

The <strong>proteinstrong> 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 <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3-like

heat shock 70kDa <strong>proteinstrong> 5 (glucose-regulated <strong>proteinstrong>, 78kDa) pseudogene

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

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

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (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 <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

ligand of numb-<strong>proteinstrong> X 1, E3 ubiquitin <strong>proteinstrong> ligase pseudogene

MYC binding <strong>proteinstrong> 2, E3 ubiquitin <strong>proteinstrong> ligase

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

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

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

mitogen-activated <strong>proteinstrong> kinase-activated <strong>proteinstrong> kinase 2

This gene encodes a member of the Ser/Thr <strong>proteinstrong> 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 <strong>proteinstrong> 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 <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5 pseudogene 4

tumor <strong>proteinstrong> p53 inducible <strong>proteinstrong> 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 <strong>proteinstrong> 128, E3 ubiquitin <strong>proteinstrong> ligase

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

mitogen-activated <strong>proteinstrong> kinase 1 interacting <strong>proteinstrong> 1-like

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 10 pseudogene 1

amyloid beta (A4) precursor <strong>proteinstrong>-binding, family B, member 1 interacting <strong>proteinstrong>

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 <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5 pseudogene 1

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5 pseudogene 3

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5 pseudogene 2

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5 pseudogene 5

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (liprin), alpha 1 pseudogene

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (liprin), alpha 1 pseudogene

tumor <strong>proteinstrong> p53 inducible <strong>proteinstrong> 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]

<strong>proteinstrong> tyrosine phosphatase, receptor type, C-associated <strong>proteinstrong>

The <strong>proteinstrong> encoded by this gene was identified as a transmembrane phospho<strong>proteinstrong> 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 <strong>proteinstrong>. [provided by RefSeq, Jul 2008]

putative ubiquitin-like <strong>proteinstrong> FUBI-like <strong>proteinstrong> ENSP00000310146

mitogen-activated <strong>proteinstrong> kinase binding <strong>proteinstrong> 1

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

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), beta polypeptide 2-like 1

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

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

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

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong>, pseudogene

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha 11 (Gq class) pseudogene

ring finger <strong>proteinstrong> 138, E3 ubiquitin <strong>proteinstrong> ligase pseudogene 1

low density lipo<strong>proteinstrong> receptor-related <strong>proteinstrong> associated <strong>proteinstrong> 1

This gene encodes a <strong>proteinstrong> that interacts with the low density lipo<strong>proteinstrong> (LDL) receptor-related <strong>proteinstrong> 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 <strong>proteinstrong> 4-like <strong>proteinstrong> 4

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha 14

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

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>) alpha 12

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha 13

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha 11 (Gq class)

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

<strong>proteinstrong> kinase C, delta binding <strong>proteinstrong>

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

tumor <strong>proteinstrong> p53 regulated apoptosis inducing <strong>proteinstrong> 1

This gene is specifically expressed in the thymus, and encodes a <strong>proteinstrong> 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 <strong>proteinstrong> interacting <strong>proteinstrong> 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 <strong>proteinstrong> interacting <strong>proteinstrong> 1

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

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

Predicted to enable G-<strong>proteinstrong> beta-subunit binding activity. Predicted to be involved in G <strong>proteinstrong>-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 <strong>proteinstrong> (G <strong>proteinstrong>), gamma 4

Predicted to enable G-<strong>proteinstrong> 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 <strong>proteinstrong> (G <strong>proteinstrong>), gamma 5

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

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

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 8

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

double homeobox <strong>proteinstrong> 4-like <strong>proteinstrong> 4

VAMP (vesicle-associated membrane <strong>proteinstrong>)-associated <strong>proteinstrong> B and C

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

VAMP (vesicle-associated membrane <strong>proteinstrong>)-associated <strong>proteinstrong> A, 33kDa

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

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

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

PTPRF interacting <strong>proteinstrong>, binding <strong>proteinstrong> 1 (liprin beta 1)

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

PTPRF interacting <strong>proteinstrong>, binding <strong>proteinstrong> 2 (liprin beta 2)

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

lymphocyte cytosolic <strong>proteinstrong> 2 (SH2 domain containing leukocyte <strong>proteinstrong> of 76kDa)

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

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1

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

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

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 3

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

putative paraneoplastic antigen-like <strong>proteinstrong> 6B-like <strong>proteinstrong> LOC649238

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), beta 5

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

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

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

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

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

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

G <strong>proteinstrong>-coupled receptor associated sorting <strong>proteinstrong> 2

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

G <strong>proteinstrong>-coupled receptor associated sorting <strong>proteinstrong> 1

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha inhibiting activity polypeptide 2 pseudogene 2

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha inhibiting activity polypeptide 2 pseudogene 1

tumor <strong>proteinstrong> p53 binding <strong>proteinstrong> 2 pseudogene 1

ring finger <strong>proteinstrong> 138, E3 ubiquitin <strong>proteinstrong> ligase pseudogene 2

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 12-like

mitogen-activated <strong>proteinstrong> kinase kinase kinase 1, E3 ubiquitin <strong>proteinstrong> ligase

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

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

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

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

receptor (G <strong>proteinstrong>-coupled) activity modifying <strong>proteinstrong> 2

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

tumor <strong>proteinstrong> p53 inducible nuclear <strong>proteinstrong> 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 <strong>proteinstrong> p53 inducible nuclear <strong>proteinstrong> 2

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

ring finger <strong>proteinstrong> 34, E3 ubiquitin <strong>proteinstrong> ligase

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

tumor <strong>proteinstrong> p53 pathway corepressor 1 (non-<strong>proteinstrong> coding)

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

S-phase kinase-associated <strong>proteinstrong> 2, E3 ubiquitin <strong>proteinstrong> ligase pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

ring finger <strong>proteinstrong> 138, E3 ubiquitin <strong>proteinstrong> ligase

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), q polypeptide

This locus encodes a guanine nucleotide-binding <strong>proteinstrong>. The encoded <strong>proteinstrong>, 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 <strong>proteinstrong> (G <strong>proteinstrong>), alpha z polypeptide

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha activating activity polypeptide, olfactory type

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

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

ring finger <strong>proteinstrong> 5, E3 ubiquitin <strong>proteinstrong> ligase

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

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

ring finger <strong>proteinstrong> 5, E3 ubiquitin <strong>proteinstrong> ligase pseudogene 1

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 10

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 11

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

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 13

Heterotrimeric G <strong>proteinstrong>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 <strong>proteinstrong>-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 <strong>proteinstrong> (SRF accessory <strong>proteinstrong> 2)

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

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

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

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding <strong>proteinstrong> (G <strong>proteinstrong>) 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 <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 2B

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

CMT1A duplicated region transcript 15 <strong>proteinstrong>-like <strong>proteinstrong>

mitogen-activated <strong>proteinstrong> kinase-activated <strong>proteinstrong> kinase 2 pseudogene

heterochromatin <strong>proteinstrong> 1, binding <strong>proteinstrong> 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 <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

ring finger <strong>proteinstrong> 41, E3 ubiquitin <strong>proteinstrong> ligase

This gene encodes an E3 ubiquitin ligase. The encoded <strong>proteinstrong> 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 <strong>proteinstrong> 4-like <strong>proteinstrong> 4

ribosomal <strong>proteinstrong> S19 binding <strong>proteinstrong> 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 <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

ring finger <strong>proteinstrong> 168, E3 ubiquitin <strong>proteinstrong> ligase

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

zinc finger <strong>proteinstrong> interacting with K <strong>proteinstrong> 1 pseudogene 1

GTPase activating <strong>proteinstrong> (SH3 domain) binding <strong>proteinstrong> 2

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

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (liprin), alpha 2

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

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (liprin), alpha 3

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

<strong>proteinstrong> tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting <strong>proteinstrong> (liprin), alpha 1

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

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

ligand of numb-<strong>proteinstrong> X 1, E3 ubiquitin <strong>proteinstrong> ligase

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

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

mitogen-activated <strong>proteinstrong> kinase-activated <strong>proteinstrong> kinase 5 pseudogene 1

cyclin B1 interacting <strong>proteinstrong> 1, E3 ubiquitin <strong>proteinstrong> 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 <strong>proteinstrong> 3 (cardiac LIM <strong>proteinstrong>)

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

serpin peptidase inhibitor, clade H (heat shock <strong>proteinstrong> 47), member 1, (collagen binding <strong>proteinstrong> 1)

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

regulator of G <strong>proteinstrong> signaling 9 binding <strong>proteinstrong>

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma 10 pseudogene

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha inhibiting activity polypeptide 2

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

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha inhibiting activity polypeptide 1

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

mitogen-activated <strong>proteinstrong> kinase associated <strong>proteinstrong> 1

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

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

double homeobox <strong>proteinstrong> 4-like <strong>proteinstrong> 4

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

ring finger <strong>proteinstrong> 20, E3 ubiquitin <strong>proteinstrong> ligase

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), alpha 13 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

mitogen-activated <strong>proteinstrong> kinase 8 interacting <strong>proteinstrong> 1 pseudogene

valosin containing <strong>proteinstrong> (p97)/p47 complex interacting <strong>proteinstrong> 1

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

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

BCL2/adenovirus E1B 19 kDa <strong>proteinstrong>-interacting <strong>proteinstrong> 3 pseudogene

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), beta polypeptide 1-like

This gene encodes a G-<strong>proteinstrong> beta-subunit-like polypeptide which is a member of the WD repeat <strong>proteinstrong> 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 multi<strong>proteinstrong> complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This <strong>proteinstrong> 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 <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

poly(A) binding <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

heat shock 70kDa <strong>proteinstrong> 5 (glucose-regulated <strong>proteinstrong>, 78kDa)

The <strong>proteinstrong> encoded by this gene is a member of the heat shock <strong>proteinstrong> 70 (HSP70) family. This <strong>proteinstrong> localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding and assembly of <strong>proteinstrong>s in the ER and is a master regulator of ER homeostasis. During cellular stress, as during viral infection or tumorogenesis, this <strong>proteinstrong> interacts with the transmembrane stress sensor <strong>proteinstrong>s PERK (<strong>proteinstrong> 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 <strong>proteinstrong> response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this <strong>proteinstrong> to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this <strong>proteinstrong> 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 <strong>proteinstrong> (G <strong>proteinstrong>), beta polypeptide 2-like 1 pseudogene

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), beta polypeptide 2-like 1 pseudogene

heat shock 70kDa <strong>proteinstrong> 5 (glucose-regulated <strong>proteinstrong>, 78kDa) pseudogene

adaptor-related <strong>proteinstrong> complex 1 associated regulatory <strong>proteinstrong>

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 <strong>proteinstrong> interacting <strong>proteinstrong> 1 pseudogene

NGFI-A binding <strong>proteinstrong> 1 (EGR1 binding <strong>proteinstrong> 1) pseudogene

STIP1 homology and U-box containing <strong>proteinstrong> 1, E3 ubiquitin <strong>proteinstrong> ligase

This gene encodes a <strong>proteinstrong> containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded <strong>proteinstrong> binds to and ubiquitinates shock cognate 71 kDa <strong>proteinstrong> (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 <strong>proteinstrong> tyrosine kinase binding <strong>proteinstrong>

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded <strong>proteinstrong> may associate with the killer-cell inhibitory receptor (KIR) family of membrane glyco<strong>proteinstrong>s and may act as an activating signal transduction element. This <strong>proteinstrong> may bind zeta-chain (TCR) associated <strong>proteinstrong> 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 <strong>proteinstrong> (G <strong>proteinstrong>), gamma transducing activity polypeptide 2

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

guanine nucleotide binding <strong>proteinstrong> (G <strong>proteinstrong>), gamma transducing activity polypeptide 1

This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding <strong>proteinstrong> (G <strong>proteinstrong>) 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 <strong>proteinstrong> complex 4 accessory <strong>proteinstrong>

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

G <strong>proteinstrong>-coupled receptor associated sorting <strong>proteinstrong> family member 3

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

COMM domain-containing <strong>proteinstrong> 6-like

charged multivesicular body <strong>proteinstrong> 1B

CHMP1B belongs to the chromatin-modifying <strong>proteinstrong>/charged multivesicular body <strong>proteinstrong> (CHMP) family. These <strong>proteinstrong>s are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor <strong>proteinstrong>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 <strong>proteinstrong> L7a pseudogene

nuclear speckle splicing regulatory <strong>proteinstrong> 1

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

long intergenic non-<strong>proteinstrong> coding RNA 1221

ribosomal <strong>proteinstrong> S4X pseudogene 3

ribosomal <strong>proteinstrong> S4X pseudogene 1

ribosomal <strong>proteinstrong> S4X pseudogene 6

ribosomal <strong>proteinstrong> S4X pseudogene 7

ribosomal <strong>proteinstrong> S4X pseudogene 4

BCL2-related <strong>proteinstrong> A1

This gene encodes a member of the BCL-2 <strong>proteinstrong> family. The <strong>proteinstrong>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 <strong>proteinstrong> 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 <strong>proteinstrong> S4X pseudogene 8

ribosomal <strong>proteinstrong> S4X pseudogene 9

probable ribosome biogenesis <strong>proteinstrong> RLP24 pseudogene

CDC28 <strong>proteinstrong> kinase regulatory subunit 1B

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

ribosomal <strong>proteinstrong> L31 pseudogene 13

cartilage associated <strong>proteinstrong>

The <strong>proteinstrong> encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded <strong>proteinstrong> is a scaffolding <strong>proteinstrong> 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-<strong>proteinstrong> coding)

cytoplasmic polyadenylation element binding <strong>proteinstrong> 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 <strong>proteinstrong> 1

This gene encodes a member of the cytoplasmic polyadenylation element binding <strong>proteinstrong> family. This highly conserved <strong>proteinstrong> binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded <strong>proteinstrong> 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 <strong>proteinstrong> 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 <strong>proteinstrong> 2

The <strong>proteinstrong> encoded by this gene is highly similar to cytoplasmic polyadenylation element binding <strong>proteinstrong> (CPEB), an mRNA-binding <strong>proteinstrong> 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 <strong>proteinstrong> in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

zinc finger <strong>proteinstrong> 717-like

UPF0607 <strong>proteinstrong> ENSP00000381514-like

long intergenic non-<strong>proteinstrong> coding RNA 1227

SERPINE1 mRNA binding <strong>proteinstrong> 1 pseudogene

polled intersex syndrome regulated transcript 1 (non-<strong>proteinstrong> coding RNA)

40S ribosomal <strong>proteinstrong> SA-like

alpha- and gamma-adaptin binding <strong>proteinstrong>

The <strong>proteinstrong> encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

golgin subfamily A member 6-like <strong>proteinstrong> 1

zinc finger <strong>proteinstrong> 532 pseudogene

ret finger <strong>proteinstrong>-like 4A-like 1

Predicted to enable <strong>proteinstrong> homodimerization activity; <strong>proteinstrong> kinase binding activity; and ubiquitin <strong>proteinstrong> ligase activity. Predicted to be involved in several processes, including positive regulation of autophagy; positive regulation of canonical NF-kappaB signal transduction; and regulation of viral entry into host cell. Predicted to be active in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ribosomal <strong>proteinstrong> L5 pseudogene

ribosomal <strong>proteinstrong> L12 pseudogene 31

transmembrane epididymal <strong>proteinstrong> 1 pseudogene

mitochondrial ribosomal <strong>proteinstrong> S31 pseudogene 4

nuclease-sensitive element-binding <strong>proteinstrong> 1 pseudogene

zinc finger <strong>proteinstrong> 117

This gene encodes a <strong>proteinstrong> containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger <strong>proteinstrong>. [provided by RefSeq, Jan 2017]

zinc finger <strong>proteinstrong> 114

Enables identical <strong>proteinstrong> binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger <strong>proteinstrong> 112

Predicted to enable DNA-binding transcription activator 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]

<strong>proteinstrong> kinase, cAMP-dependent, regulatory, type II, alpha

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent <strong>proteinstrong> kinase, which transduces the signal through phosphorylation of different target <strong>proteinstrong>s. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The <strong>proteinstrong> encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring <strong>proteinstrong>s and determine the subcellular localization of cAMP-dependent <strong>proteinstrong> kinase. This subunit has been shown to regulate <strong>proteinstrong> transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

<strong>proteinstrong> kinase, cAMP-dependent, regulatory, type II, beta

cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent <strong>proteinstrong> kinase, which transduces the signal through phosphorylation of different target <strong>proteinstrong>s. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The <strong>proteinstrong> encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding <strong>proteinstrong> 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

transmembrane <strong>proteinstrong> 200B

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

ribosomal <strong>proteinstrong> L12 pseudogene 36

WW domain binding <strong>proteinstrong> 2 pseudogene

keratin associated <strong>proteinstrong> 2-3

Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

keratin associated <strong>proteinstrong> 2-2

Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

keratin associated <strong>proteinstrong> 2-1

Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

keratin associated <strong>proteinstrong> 2-4

This <strong>proteinstrong> is a member of the keratin-associated <strong>proteinstrong> (KAP) family. The KAP <strong>proteinstrong>s form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This <strong>proteinstrong> is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]

ribosomal <strong>proteinstrong> L12 pseudogene 38

zinc finger <strong>proteinstrong> 736 pseudogene 3, Y-linked

vacuole membrane <strong>proteinstrong> 1

This gene encodes a transmembrane <strong>proteinstrong> that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded <strong>proteinstrong> in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded <strong>proteinstrong> mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]

nuclear pore associated <strong>proteinstrong> 1 pseudogene

ribosomal <strong>proteinstrong> S26 pseudogene 43

ribosomal <strong>proteinstrong> S26 pseudogene 42

ribosomal <strong>proteinstrong> S26 pseudogene 41

ribosomal <strong>proteinstrong> S26 pseudogene 40

ribosomal <strong>proteinstrong> S26 pseudogene 47

ribosomal <strong>proteinstrong> S26 pseudogene 46

ribosomal <strong>proteinstrong> S26 pseudogene 45

ribosomal <strong>proteinstrong> S26 pseudogene 44

ribosomal <strong>proteinstrong> S26 pseudogene 49

ribosomal <strong>proteinstrong> S26 pseudogene 48

putative <strong>proteinstrong> FAM90A10

FAM90A10 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[supplied by OMIM, Oct 2009]

RAN binding <strong>proteinstrong> 1 pseudogene

discs, large (Drosophila) homolog-associated <strong>proteinstrong> 2

The product of this gene is a membrane-associated <strong>proteinstrong> that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, only the paternal allele is expressed in the testis (PMID:18055845). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2014]

discs, large (Drosophila) homolog-associated <strong>proteinstrong> 3

Predicted to enable PDZ domain binding activity; molecular adaptor activity; and scaffold <strong>proteinstrong> binding activity. Predicted to be involved in modulation of chemical synaptic transmission and <strong>proteinstrong>-containing complex assembly. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including cholinergic synapse; glutamatergic synapse; and neuromuscular junction. [provided by Alliance of Genome Resources, Mar 2025]