GNAI3

Guanine nucleotide-binding protein G(k) subunit alpha is a protein that in humans is encoded by the GNAI3 gene. This protein is one of the 4 subunits in the G_i/o family of G-proteins. These subunits play an important role in inhibitory signaling for G protein-coupled receptors.^[5][6] Variants in this gene are associated with Auriculocondylar Syndrome 1, a rare syndrome which often involves atypical ear and/or facial features and developmental delays.

AliasesGNAI3, 87U6, ARCND1, G protein subunit alpha i3, HG1A

External IDsOMIM: 139370; MGI: 95773; GeneCards: GNAI3

PDBOrtholog search: PDBe RCSB

Chr.Chromosome 1 (human)^[1]

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GNAI3
Identifiers
Aliases	GNAI3, 87U6, ARCND1, G protein subunit alpha i3, HG1A
External IDs	OMIM: 139370; MGI: 95773; GeneCards: GNAI3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IHB, 2ODE, 2V4Z, 4G5O, 4G5R, 4G5S
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.3 Start 109,548,615 bp[1] End 109,600,195 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.3|3 46.83 cM Start 108,014,596 bp[2] End 108,053,462 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gingival epithelium skin of thigh parietal pleura visceral pleura hair follicle skin of hip tibia cartilage tissue oral cavity cervix epithelium Top expressed in abdominal wall medial ganglionic eminence dermis skin of external ear primitive streak efferent ductule vas deferens gastrula seminal vesicula granulocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signal transducer activity metal ion binding protein domain specific binding nucleotide binding GTPase activating protein binding guanyl nucleotide binding GDP binding G protein-coupled receptor binding G-protein beta/gamma-subunit complex binding G protein-coupled serotonin receptor binding protein binding GTPase activity GTP binding Cellular component extracellular exosome lysosomal membrane cytoplasm microtubule organizing center Golgi apparatus heterotrimeric G-protein complex membrane centrosome midbody membrane raft zymogen granule cytoskeleton plasma membrane nucleus nucleolus Golgi membrane endoplasmic reticulum membrane Biological process cell cycle signal transduction negative regulation of adenylate cyclase activity GTP metabolic process cell division vesicle fusion dopamine receptor signaling pathway adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway protein folding adenylate cyclase-modulating G protein-coupled receptor signaling pathway transport positive regulation of macroautophagy G protein-coupled receptor signaling pathway brain development positive regulation of superoxide anion generation positive regulation of NAD(P)H oxidase activity positive regulation of vascular associated smooth muscle cell proliferation negative regulation of apoptotic signaling pathway Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 2773 14679 Ensembl ENSG00000065135 ENSMUSG00000000001 UniProt P08754 Q9DC51 RefSeq (mRNA) NM_006496 NM_010306 RefSeq (protein) NP_006487 NP_034436 Location (UCSC) Chr 1: 109.55 – 109.6 Mb Chr 3: 108.01 – 108.05 Mb PubMed search [3] [4]
Wikidata
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