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

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; AllianceGenome:HGNC:4387
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; HG1A; ARCND1; ARCODS
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: mouse all
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Genomic context

Location:: 1p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (109548615..109600195)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (109581338..109632911)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (110091237..110142817)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GNAI3 mediated by Lin28A regulates lipopolysaccharide-induced inflammation and osteogenic differentiation in periodontal stem cells by mediating the NF-kappaB/NLRP3 inflammasome pathway.
Title: GNAI3 mediated by Lin28A regulates lipopolysaccharide-induced inflammation and osteogenic differentiation in periodontal stem cells by mediating the NF-κB/NLRP3 inflammasome pathway.
Integrins regulate hERG1 dynamics by girdin-dependent Galphai3: signaling and modeling in cancer cells.
Title: Integrins regulate hERG1 dynamics by girdin-dependent Gαi3: signaling and modeling in cancer cells.
Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
Title: Gαi1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
Title: A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1.
A highly conserved delta-opioid receptor region determines RGS4 interaction.
Title: A highly conserved δ-opioid receptor region determines RGS4 interaction.
The CpG-SNP rs11810577 in GNAI3 in the gastric acid secretion pathway was significantly associated with susceptibility to gastric cancer.
Title: Novel CpG-SNPs in the gastric acid secretion pathway GNAI3 and susceptibility to gastric cancer.
We found that the inhibitory Galphai3 protein selectively bound to the G-protein-binding domain on the C-terminus of PC1. The dissociation of Galphai3 upon cleavage of PC1 increased TRPC4 activity.
Title: Gα(i)-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation.
These results provide mechanistic insights into the critical role played by Galphai1/3 proteins in VEGF-induced VEGFR2 endocytosis, signaling and angiogenesis.
Title: Gαi1 and Gαi3mediate VEGF-induced VEGFR2 endocytosis, signaling and angiogenesis.
direct binding of GATA4 to the GNAI3 promoter, both in vitro and in vivo, is reported.
Title: Role of GATA binding protein 4 (GATA4) in the regulation of tooth development via GNAI3.
magnetic field-dependent nuclear magnetic resonance relaxation analyses were used to investigate the structural and dynamic properties of GDP bound Galpha on a microsecond timescale.
Title: Dynamic regulation of GDP binding to G proteins revealed by magnetic field-dependent NMR relaxation analyses.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

EBI GWAS Catalog

Description
Genome-wide association study of recurrent early-onset major depressive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3455 (e-PCR)
- UniSTS:154707

AL033729 (e-PCR)
- UniSTS:93598

RH99215 (e-PCR)
- UniSTS:88258

SHGC-145381 (e-PCR)
- UniSTS:174537

D1S3364 (e-PCR)
- UniSTS:54477

SHGC-80989 (e-PCR)
- UniSTS:102613

SHGC-75278 (e-PCR)
- UniSTS:50646

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GDP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in GTP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell division	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of adenylate cyclase activity	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: guanine nucleotide-binding protein G(i) subunit alpha-3

Names: g(i) alpha-3; guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3; guanine nucleotide-binding protein G(i) subunit alpha; guanine nucleotide-binding protein G(k) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1A

NCBI Reference Sequences (RefSeq)

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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

NG_032795.1 RefSeqGene

Range

5001..52280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006496.4 → NP_006487.1 guanine nucleotide-binding protein G(i) subunit alpha-3

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, P17539, Q5TZX1

Related

ENSP00000358867.4, ENST00000369851.7

Conserved Domains (1) summary

cd00066
Location:34 → 348

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)