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    GABRQ gamma-aminobutyric acid type A receptor subunit theta [ Homo sapiens (human) ]

    Gene ID: 55879, updated on 27-Nov-2024

    Summary

    Official Symbol
    GABRQprovided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor subunit thetaprovided by HGNC
    Primary source
    HGNC:HGNC:14454
    See related
    Ensembl:ENSG00000268089 MIM:300349; AllianceGenome:HGNC:14454
    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
    THETA
    Summary
    The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]
    Expression
    Biased expression in brain (RPKM 1.4), adrenal (RPKM 0.9) and 4 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GABRQ 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 (152637895..152658965)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150904491..150933803)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151806349..151826007)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha3 Neighboring gene microRNA 105-2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:151599729-151600928 Neighboring gene keratin 8 pseudogene 8 Neighboring gene MAGEA3 divergent transcript Neighboring gene MAGE family member A4 pseudogene Neighboring gene MAGE family member A3

    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

    • MGC129629, MGC129630

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 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-gated chloride ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to chloride channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables neurotransmitter transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    gamma-aminobutyric acid receptor subunit theta
    Names
    GABA(A) receptor subunit theta
    GABAAR subunit theta
    gamma-aminobutyric acid (GABA) A receptor, theta
    gamma-aminobutyric acid type A receptor theta subunit

    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_015965.2 RefSeqGene

      Range
      5001..20180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018558.4NP_061028.3  gamma-aminobutyric acid receptor subunit theta precursor

      See identical proteins and their annotated locations for NP_061028.3

      Status: REVIEWED

      Source sequence(s)
      AC244102, AF189259
      Consensus CDS
      CCDS14707.1
      UniProtKB/Swiss-Prot
      A6NFN1, Q32MB4, Q9NZK8, Q9UN88
      Related
      ENSP00000469332.1, ENST00000598523.3
      Conserved Domains (1) summary
      cl27321
      Location:60353
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    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
      152637895..152658965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531184.4XP_011529486.1  gamma-aminobutyric acid receptor subunit theta isoform X1

      Conserved Domains (2) summary
      pfam02931
      Location:60265
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:272354
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      252995..282318
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333346.1XP_054189321.1  gamma-aminobutyric acid receptor subunit theta isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150904491..150933803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327398.1XP_054183373.1  gamma-aminobutyric acid receptor subunit theta isoform X1