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

Gene ID: 2565, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See GABRG1 in Genome Data Viewer
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_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 931, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:45986993-45987530 Neighboring gene MPRA-validated peak5030 silencer Neighboring gene RN7SK pseudogene 199 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha2 Neighboring gene Sharpr-MPRA regulatory region 442 Neighboring gene RNA, U6 small nuclear 412, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Voluntary intravenous self-administration of alcohol detects an interaction between GABAergic manipulation and GABRG1 polymorphism genotype: a pilot study. Plawecki MH, et al. Alcohol Clin Exp Res, 2013 Jan. PMID 22817768, Free PMC Article
  2. Genetic association of recovery from eating disorders: the role of GABA receptor SNPs. Bloss CS, et al. Neuropsychopharmacology, 2011 Oct. PMID 21750581, Free PMC Article
  3. Associations among GABRG1, level of response to alcohol, and drinking behaviors. Ray LA, et al. Alcohol Clin Exp Res, 2009 Aug. PMID 19426171, Free PMC Article
  4. Human chromosomal localization of genes encoding the gamma 1 and gamma 2 subunits of the gamma-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome. Wilcox AS, et al. Proc Natl Acad Sci U S A, 1992 Jul 1. PMID 1321425, Free PMC Article
  5. Markers in the 5'-region of GABRG1 associate to alcohol dependence and are in linkage disequilibrium with markers in the adjacent GABRA2 gene. Covault J, et al. Neuropsychopharmacology, 2008 Mar. PMID 17507911, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • MGC33838, DKFZp686H2042

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-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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inhibitory synapse assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane potential IBA
Inferred from Biological aspect of Ancestor
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
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
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
  
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transmembrane transporter complex IBA
Inferred from Biological aspect of Ancestor
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

  1. NG_046964.1 RefSeqGene

    Range
    5012..93297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    46035769..46124054 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007990.2 → XP_016863479.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    46004706..46090897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349573.1 → XP_054205548.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N1C3.2 GenPept UniProtKB/Swiss-Prot:Q8N1C3

Gene LinkOut

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