GNAI1 G protein subunit alpha i1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNAI1provided by HGNC
Official Full Name: G protein subunit alpha i1provided by HGNC
Primary source: HGNC:HGNC:4384
See related: Ensembl:ENSG00000127955 MIM:139310; AllianceGenome:HGNC:4384
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: Gi; HG1B; NEDHISB
Summary: Guanine nucleotide binding proteins 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 proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein 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]
Expression: Ubiquitous expression in fat (RPKM 39.3), brain (RPKM 28.1) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (80134831..80226181)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (81386157..81477526)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (79764147..79855497)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
Title: Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
Overexpressed Galphai1 exerts pro-tumorigenic activity in nasopharyngeal carcinoma.
Title: Overexpressed Gαi1 exerts pro-tumorigenic activity in nasopharyngeal carcinoma.
Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.
Title: Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients.
Galphai1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
Title: Gαi1/3 mediate Netrin-1-CD146-activated signaling and angiogenesis.
LncRNA PINK1-AS promotes Galphai1-driven gastric cancer tumorigenesis by sponging microRNA-200a.
Title: LncRNA PINK1-AS promotes Gαi1-driven gastric cancer tumorigenesis by sponging microRNA-200a.
The Galphai protein subclass selectivity to the dopamine D2 receptor is also decided by their location at the cell membrane.
Title: The Gαi protein subclass selectivity to the dopamine D(2) receptor is also decided by their location at the cell membrane.
Feeling at home: Structure of the NTSR1-Gi complex in a lipid environment.
Title: Feeling at home: Structure of the NTSR1-G(i) complex in a lipid environment.
Galphai1 inhibition mechanism of ATP-bound adenylyl cyclase type 5.
Title: Gαi1 inhibition mechanism of ATP-bound adenylyl cyclase type 5.
Structures of Galpha Proteins in Complex with Their Chaperone Reveal Quality Control Mechanisms.
Title: Structures of Gα Proteins in Complex with Their Chaperone Reveal Quality Control Mechanisms.
Preferential Coupling of Dopamine D2S and D2L Receptor Isoforms with Gi1 and Gi2 Proteins-In Silico Study.
Title: Preferential Coupling of Dopamine D(2S) and D(2L) Receptor Isoforms with G(i1) and G(i2) Proteins-In Silico Study.

Submit: New GeneRIF Correction See all GeneRIFs (81)

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
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities MedGen: C5676975 OMIM: 619854 GeneReviews: GNAI1-Related Neurodevelopmental Disorder	not available

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-03-28) ClinGen Genome Curation PagePubMed

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

GNAI1_981 (e-PCR)
- UniSTS:277288

GNAI1_V244 (e-PCR)
- UniSTS:277288

D7S2639 (e-PCR)
- UniSTS:22321

GNAI1 (e-PCR)
- UniSTS:479799

G17154 (e-PCR)
- UniSTS:23616

SHGC-30450 (e-PCR)
- UniSTS:80995

D7S2741 (e-PCR)
- UniSTS:62829

SHGC-56112 (e-PCR)
- UniSTS:71538

RH16584 (e-PCR)
- UniSTS:48524

D7S634 (e-PCR), detects polymorphism
- UniSTS:73115

GDB:1318186 (e-PCR)
- UniSTS:46494

D7S634 (e-PCR), detects polymorphism
- UniSTS:5819

GNAI1 (e-PCR)
- UniSTS:278484

SHGC-142078 (e-PCR)
- UniSTS:171233

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables D2 dopamine receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables G protein activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled serotonin 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	ISS Inferred from Sequence or Structural Similarity more info
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	ISS Inferred from Sequence or Structural Similarity 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 GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables GTPase activity	TAS Traceable Author Statement more info
enables adenylate cyclase regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in T cell migration	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-inhibiting G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in adenylate cyclase-inhibiting serotonin 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to forskolin	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein localization to cell cortex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cAMP-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitotic spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to peptide hormone	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to prostaglandin E	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell cortex	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
is_active_in cytosol	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
part_of heterotrimeric G-protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal 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-1

Names: Gi1 protein alpha subunit; adenylate cyclase-inhibiting G alpha protein; guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1; heterotrimeric guanine nucleotide-binding protein 1B

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.

mRNA and Protein(s)

NM_001256414.2 → NP_001243343.1 guanine nucleotide-binding protein G(i) subunit alpha-1 isoform 2

See identical proteins and their annotated locations for NP_001243343.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC080066, AK304442, BC026326

Consensus CDS

CCDS59061.1

UniProtKB/Swiss-Prot

P63096

Related

ENSP00000410572.2, ENST00000457358.7

Conserved Domains (1) summary

cd00066
Location:1 → 296

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
NM_002069.6 → NP_002060.4 guanine nucleotide-binding protein G(i) subunit alpha-1 isoform 1

See identical proteins and their annotated locations for NP_002060.4

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC004159, AC080066

Consensus CDS

CCDS5595.1

UniProtKB/Swiss-Prot

A8KA88, B4E2V1, C9J3A4, P04898, P11015, P31871, P63096, Q5U074, Q8TAN5, Q9UGA4

Related

ENSP00000497260.1, ENST00000649796.2

Conserved Domains (1) summary

cd00066
Location:34 → 348

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