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

    Gene ID: 2556, updated on 9-Dec-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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