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GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 [ Homo sapiens (human) ]

Gene ID: 2556, updated on 27-Nov-2024

Summary

Official Symbol
GABRA3provided by HGNC
Official Full Name
gamma-aminobutyric acid type A receptor subunit alpha3provided by HGNC
Primary source
HGNC:HGNC:4077
See related
Ensembl:ENSG00000011677 MIM:305660; AllianceGenome:HGNC:4077
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
EPILX2
Summary
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 11.7) and placenta (RPKM 1.8) See more
Orthologs
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Genomic context

See GABRA3 in Genome Data Viewer
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152166234..152451315, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150432298..150717938, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151334706..151619787, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373369 Neighboring gene MAGEA10-MAGEA5 readthrough Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151297273-151298472 Neighboring gene MAGE family member A5, pseudogene Neighboring gene Sharpr-MPRA regulatory region 4801 Neighboring gene MAGE family member A10 Neighboring gene Sharpr-MPRA regulatory region 4725 Neighboring gene RNA, U6 small nuclear 764, pseudogene Neighboring gene microRNA 105-1 Neighboring gene microRNA 105-2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:151599729-151600928 Neighboring gene microRNA 767 Neighboring gene keratin 8 pseudogene 8 Neighboring gene MAGEA3 divergent transcript Neighboring gene gamma-aminobutyric acid type A receptor subunit theta

Genomic regions, transcripts, and products

Expression

  • 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

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

  • MGC33793

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA-A receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GABA-A receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GABA-A receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GABA-gated chloride ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables GABA-gated chloride ion channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables GABA-gated chloride ion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables GABA-gated chloride ion channel activity ISS
Inferred from Sequence or Structural Similarity
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 gamma-aminobutyric acid signaling pathway ISS
Inferred from Sequence or Structural Similarity
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 GABA-A receptor complex ISS
Inferred from Sequence or Structural Similarity
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 plasma membrane TAS
Traceable Author Statement
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
 

General protein information

Preferred Names
gamma-aminobutyric acid receptor subunit alpha-3
Names
GABA(A) receptor subunit alpha-3
GABA(A) receptor, alpha 3
GABAAR subunit alpha-3
gamma-aminobutyric acid (GABA) A receptor, alpha 3
gamma-aminobutyric acid type A receptor alpha3 subunit
gamma-animobutyric acid (GABA) A receptor, alpha 3

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_007102.2 RefSeqGene

    Range
    5044..290125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000808.4NP_000799.1  gamma-aminobutyric acid receptor subunit alpha-3 precursor

    See identical proteins and their annotated locations for NP_000799.1

    Status: REVIEWED

    Source sequence(s)
    AC116666, BC028629, DA402645, S62908
    Consensus CDS
    CCDS14706.1
    UniProtKB/Swiss-Prot
    P34903, Q8TAF9
    UniProtKB/TrEMBL
    B2R621
    Related
    ENSP00000359337.4, ENST00000370314.9
    Conserved Domains (2) summary
    TIGR00860
    Location:69478
    LIC; Cation transporter family protein
    cd19036
    Location:75274
    LGIC_ECD_GABAAR_A3; extracellular domain of gamma-aminobutyric acid receptor subunit alpha-3 (GABAAR-A3 or GABRA3)

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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    152166234..152451315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724811.4XP_006724874.1  gamma-aminobutyric acid receptor subunit alpha-3 isoform X1

    Conserved Domains (2) summary
    pfam02931
    Location:68275
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:282310
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    150432298..150717938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326758.1XP_054182733.1  gamma-aminobutyric acid receptor subunit alpha-3 isoform X1