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

    Gene ID: 2556, updated on 11-Apr-2024

    Summary

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    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
    mouse all
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    Genomic context

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    Location:
    Xq28
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152166234..152451315, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150432298..150717938, complement)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Identification of Positive Allosteric Modulators of Glycine Receptors from a High-Throughput Screen Using a Fluorescent Membrane Potential Assay. Stead C, et al. J Biomol Screen, 2016 Dec. PMID 27412533
    2. The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis. Gumireddy K, et al. Nat Commun, 2016 Feb 12. PMID 26869349, Free PMC Article
    3. Gamma-aminobutyric acid promotes human hepatocellular carcinoma growth through overexpressed gamma-aminobutyric acid A receptor alpha 3 subunit. Liu Y, et al. World J Gastroenterol, 2008 Dec 21. PMID 19084931, Free PMC Article
    4. Gammaaminobutyric acid A receptor alpha 3 subunit is overexpressed in lung cancer. Liu Y, et al. Pathol Oncol Res, 2009 Sep. PMID 19048400
    5. Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population. Jongjaroenprasert W, et al. Clin Endocrinol (Oxf), 2008 Apr. PMID 17970773

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiR-92b inhibited cells EMT by targeting Gabra3 and predicted prognosis of triple negative breast cancer patients.
      Title: MiR-92b inhibited cells EMT by targeting Gabra3 and predicted prognosis of triple negative breast cancer patients.
    2. The intracellular domain of GABRA3 and GABRB3 each contain essential anterograde trafficking signals that are required to overcome ER retention of assembled GABAA homo- or heteropentamers.
      Title: Anterograde trafficking signals in GABA(A) subunits are required for functional expression.
    3. data indicate that the activation of CT-GABRA3 is correlated with that of MAGEA6. Therefore, MAGEA6 is linked with CT-GABRA3 through a bidirectional promoter.
      Title: Epigenetic Coactivation of MAGEA6 and CT-GABRA3 Defines Orientation of a Segmental Duplication in the Human X Chromosome.
    4. The GABRA3 found distribute in intercalated nucleui of amygdala and dentate gyrus.
      Title: GABA(A) receptor subunits in the human amygdala and hippocampus: Immunohistochemical distribution of 7 subunits.
    5. These small-molecule GlyR PAMs have high potential both as early tool compounds to enable pharmacological studies of GlyR inhibitory neurotransmission and as a starting point for the development of potent, selective GlyRalpha3 PAMs as novel analgesics.
      Title: Identification of Positive Allosteric Modulators of Glycine Receptors from a High-Throughput Screen Using a Fluorescent Membrane Potential Assay.
    6. GABA alpha2 and/or alpha3 receptor subtypes are involved in GABAergic modulation of prolactin secretion.
      Title: The effects of the nonselective benzodiazepine lorazepam and the α2 /α3 subunit-selective GABAA receptor modulators AZD7325 and AZD6280 on plasma prolactin levels.
    7. GABRA3 induced MMP-2 and MMP-9 expression through activation of the JNK/AP-1 signaling pathway, promoting lymphatic metastasis in lung adenocarcinoma.
      Title: GABRA3 promotes lymphatic metastasis in lung adenocarcinoma by mediating upregulation of matrix metalloproteinases.
    8. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
      Title: Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
    9. The alpha3-immunoreactivity in the cerebellar cortex was relatively weak, but it was abundantly observed in different cell populations in the subcortical cerebellar structures
      Title: The α1, α2, α3, and γ2 subunits of GABAA receptors show characteristic spatial and temporal expression patterns in rhombencephalic structures during normal human brain development.
    10. Gabra3 activates the AKT pathway to promote breast cancer cell migration, invasion and metastasis. The A-to-I RNA-edited form of Gabra3 is found only in non-invasive breast cancers. Edited Gabra3 suppresses breast cancer cell invasion and metastasis.
      Title: The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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

    Associated conditions

    Description Tests
    Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
    MedGen: C5774178 OMIM: 301091 GeneReviews: Not available
    		not available

    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

    • 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-gated chloride ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GABA-gated chloride ion channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 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
    		  
    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 alpha-3
    Names
    GABA(A) receptor subunit alpha-3
    GABA(A) receptor, 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_000808.4 → NP_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:69 → 478
      LIC; Cation transporter family protein
      cd19036
      Location:75 → 274
      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_2023_10

    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_006724811.4 → XP_006724874.1  gamma-aminobutyric acid receptor subunit alpha-3 isoform X1

      Conserved Domains (2) summary
      pfam02931
      Location:68 → 275
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:282 → 310
      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_054326758.1 → XP_054182733.1  gamma-aminobutyric acid receptor subunit alpha-3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34903.1 GenPept UniProtKB/Swiss-Prot:P34903

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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