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GNAI3 G protein subunit alpha i3 [ Homo sapiens (human) ]

Gene ID: 2773, updated on 22-Jan-2020

Summary

Official Symbol
GNAI3provided by HGNC
Official Full Name
G protein subunit alpha i3provided by HGNC
Primary source
HGNC:HGNC:4387
See related
Ensembl:ENSG00000065135 MIM:139370
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
87U6; ARCND1
Summary
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins 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 protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
Expression
Ubiquitous expression in esophagus (RPKM 27.0), bone marrow (RPKM 22.0) and 25 other tissues See more
Orthologs

Genomic context

See GNAI3 in Genome Data Viewer
Location:
1p13.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (109548615..109600195)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110091186..110138465)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378893 Neighboring gene G protein-coupled receptor 61 Neighboring gene RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence Neighboring gene microRNA 197 Neighboring gene G protein subunit alpha transducin 2 Neighboring gene adenosine monophosphate deaminase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Auriculocondylar syndrome 1
MedGen: C4551996 OMIM: 602483 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genome-wide association study of recurrent early-onset major depressive disorder.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-mediated phosphorylation of WAVE2 requires both G(alpha)i-dependent and -independent pathways, and is conserved both in X4 and R5 viral infection of resting CD4 T cells and primary macrophages PubMed
env HIV-1 gp120 induces IL-1beta release from macrophages in a time- and concentration-dependent manner through binding to the chemokine receptor CCR5 and coupling to G(i)alpha protein PubMed
env CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 induce the cleavage of CD62 ligand by a mechanism dependent on matrix metalloproteinases 1 and 3, CD4, CXCR4, Galpha(i), and p38 MAPK, whereas CCR5-tropic gp120 does not PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26559

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled serotonin receptor binding IEA
Inferred from Electronic Annotation
more info
 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activating protein binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IDA
Inferred from Direct Assay
more info
PubMed 
dopamine receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of adenylate cyclase activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NAD(P)H oxidase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of superoxide anion generation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular smooth muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
protein folding TAS
Traceable Author Statement
more info
 
vesicle fusion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
zymogen granule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein G(i) subunit alpha
Names
g(i) alpha-3
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
guanine nucleotide-binding protein G(k) subunit alpha

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032795.1 RefSeqGene

    Range
    5001..52280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006496.4NP_006487.1  guanine nucleotide-binding protein G(i) subunit alpha

    See identical proteins and their annotated locations for NP_006487.1

    Status: REVIEWED

    Source sequence(s)
    AL355310
    Consensus CDS
    CCDS802.1
    UniProtKB/Swiss-Prot
    P08754
    Related
    ENSP00000358867.4, ENST00000369851.7
    Conserved Domains (1) summary
    cd00066
    Location:34348
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    109548615..109600195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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