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

    Gene ID: 2565, updated on 5-Nov-2017
    Official Symbol
    GABRG1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor gamma1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4086
    See related
    Ensembl:ENSG00000163285 MIM:137166; Vega:OTTHUMG00000128609
    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]
    Orthologs
    Location:
    4p12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (46035769..46124065, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46037786..46126082, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 931, pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 199 Neighboring gene gamma-aminobutyric acid type A receptor alpha2 subunit Neighboring gene RNA, U6 small nuclear 412, pseudogene

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Nicotine addiction, organism-specific biosystem (from KEGG)
      Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Nicotine addiction, conserved biosystem (from KEGG)
      Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
    • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
      Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
      Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC33838, DKFZp686H2042

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    GABA-A receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular ligand-gated ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    gamma-aminobutyric acid signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    gamma-aminobutyric acid receptor subunit gamma-1
    Names
    GABA(A) receptor subunit gamma-1
    GABA(A) receptor, gamma
    gamma-1 polypeptide
    gamma-aminobutyric acid (GABA) A receptor, gamma 1

    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
      5001..93297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173536.3NP_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
      Q8N1C3
      Related
      ENSP00000295452.4, OTTHUMP00000158769, ENST00000295452.4, OTTHUMT00000250470
      Conserved Domains (3) summary
      TIGR00860
      Location:66462
      LIC; Cation transporter family protein
      pfam02931
      Location:65270
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:277459
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      46035769..46124065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007990.1XP_016863479.1  gamma-aminobutyric acid receptor subunit gamma-1 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      46036916..46125198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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