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

Gene ID: 2565, updated on 7-Apr-2025

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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-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

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_173536.4NP_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:66462
    LIC; Cation transporter family protein
    cd19000
    Location:88269
    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_017007990.2XP_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_054349573.1XP_054205548.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1