GABRG1 gamma-aminobutyric acid type A receptor subunit gamma1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABRG1provided by HGNC
Official Full Name: gamma-aminobutyric acid type A receptor subunit gamma1provided by HGNC
Primary source: HGNC:HGNC:4086
See related: Ensembl:ENSG00000163285 MIM:137166; AllianceGenome:HGNC:4086
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
Summary: The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward brain (RPKM 11.0) See more
Orthologs: mouse all
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Genomic context

Location:: 4p12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (46035769..46124054, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (46004706..46090897, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (46037786..46126071, complement)

Chromosome 4 - NC_000004.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Steady-state activation of the high-affinity isoform of the alpha4beta2delta GABAA receptor.
Title: Steady-state activation of the high-affinity isoform of the α4β2δ GABA(A) receptor.
The strongest association for alcohol use disorder (rs3756007) was located in GABRA2, the strongest association for antisocial behavior (rs11941860) was located in GABRG1, and the interaction term yielded top associations in GABRA2 (rs2119183) and the intergenic region between GABRA2 and GABRG1 (rs536599).
Title: Effects of Common and Rare Chromosome 4 GABAergic Gene Variation on Alcohol Use and Antisocial Behavior.
rs1497577 not significantly associated with adaptation to subjective responses to alcohol
Title: Adaptation of Subjective Responses to Alcohol is Affected by an Interaction of GABRA2 Genotype and Recent Drinking.
Switching the intracellular domains of the gamma2 and gamma1 subunits substantiated this inference. Because this region determines post-synaptic localization, we hypothesize that GABAARs containing gamma1 and gamma2 use different mechanisms for synaptic clustering.
Title: GABAA receptor α and γ subunits shape synaptic currents via different mechanisms.
A significant GABRG1 genotype influences self-administration of alcohol and GABAergic manipulation.
Title: Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study.
we genotyped 13 single nucleotide polymorphisms spanning GABRG1 and GABRA2 in African Americans with alcohol dependence
Title: GABRG1 and GABRA2 variation associated with alcohol dependence in African Americans.
An intronic single nucleotide polymorphism (SNP) (rs17536211) in GABRG1 shows the strongest statistical evidence of association of recovery from eating disorders.
Title: Genetic association of recovery from eating disorders: the role of GABA receptor SNPs.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
A single nucleotide polymorphism of the GABRG1 gene (rs1497571) is associated with level of response to alcohol and drinking patterns.
Title: Associations among GABRG1, level of response to alcohol, and drinking behaviors.
results of the present study suggest that hippocampal neurons expressing GABAAgamma receptor subunits resist the progression of neurofibrillary degeneration in Alzheimer disease hippocampus
Title: An immunohistochemical study of GABA A receptor gamma subunits in Alzheimer's disease hippocampus: relationship to neurofibrillary tangle progression.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-83115 (e-PCR)
- UniSTS:183943

SHGC-85404 (e-PCR)
- UniSTS:183952

RH102865 (e-PCR)
- UniSTS:97199

RH106541 (e-PCR)
- UniSTS:209618

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GABA receptor binding	IEA Inferred from Electronic Annotation more info
contributes_to GABA-A receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables GABA-A receptor activity	IEA Inferred from Electronic Annotation more info
enables GABA-gated chloride ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to benzodiazepine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to chloride channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables chloride channel activity	IEA Inferred from Electronic Annotation more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in chloride transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in chloride transport	IEA Inferred from Electronic Annotation more info
involved_in gamma-aminobutyric acid signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in inhibitory synapse assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in synaptic transmission, GABAergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of GABA-A receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of chloride channel complex	IEA Inferred from Electronic Annotation more info
is_active_in dendrite membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor subunit gamma-1

Names: GABA(A) receptor subunit gamma-1; GABA(A) receptor, gamma; GABAAR subunit gamma-1; gamma-1 polypeptide; gamma-aminobutyric acid (GABA) A receptor, gamma 1; gamma-aminobutyric acid type A receptor gamma1 subunit

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_046964.1 RefSeqGene

Range

5012..93297

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173536.4 → NP_775807.2 gamma-aminobutyric acid receptor subunit gamma-1 precursor

See identical proteins and their annotated locations for NP_775807.2

Status: REVIEWED

Source sequence(s)

AC095058, AK122845

Consensus CDS

CCDS3470.1

UniProtKB/Swiss-Prot

Q5H9T8, Q8N1C3

UniProtKB/TrEMBL

A8K191

Related

ENSP00000295452.4, ENST00000295452.5

Conserved Domains (2) summary

TIGR00860
Location:66 → 462

LIC; Cation transporter family protein

cd19000
Location:88 → 269

LGIC_ECD_GABAAR_G; extracellular domain of gamma-aminobutyric acid receptor subunit gamma