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    GABRB1 gamma-aminobutyric acid type A receptor beta1 subunit [ Homo sapiens (human) ]

    Gene ID: 2560, updated on 14-Jun-2016
    Official Symbol
    GABRB1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid type A receptor beta1 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4081
    See related
    Ensembl:ENSG00000163288 HPRD:15924; MIM:137190; Vega:OTTHUMG00000044269
    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 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 GABA A receptor, beta 1 subunit. It is mapped to chromosome 4p12 in a cluster comprised of genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor. Alteration of this gene is implicated in the pathogenetics of schizophrenia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4p12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (47031278..47438409)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (47033295..47432801)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B2 Neighboring gene gamma-aminobutyric acid type A receptor alpha4 subunit Neighboring gene uncharacterized LOC105374442 Neighboring gene uncharacterized LOC107986276 Neighboring gene uncharacterized LOC107986277 Neighboring gene COMM domain containing 8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • GABA A receptor activation, organism-specific biosystem (from REACTOME)
      GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • 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...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
      Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
    • 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
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • 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...
    • Serotonergic synapse, organism-specific biosystem (from KEGG)
      Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GABA receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    GABA-A receptor activity ISS
    Inferred from Sequence or Structural Similarity
    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
     
    ligand-gated ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cellular response to histamine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    central nervous system neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ovulation cycle IEA
    Inferred from Electronic Annotation
    more info
     
    response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-A receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    GABA-A receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    gamma-aminobutyric acid receptor subunit beta-1
    Names
    GABA(A) receptor subunit beta-1
    GABA(A) receptor, beta 1
    gamma-aminobutyric acid (GABA) A receptor, beta 1
    gamma-aminobutyric acid A receptor beta 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.

    mRNA and Protein(s)

    1. NM_000812.3NP_000803.2  gamma-aminobutyric acid receptor subunit beta-1 precursor

      See identical proteins and their annotated locations for NP_000803.2

      Status: REVIEWED

      Source sequence(s)
      AK225167, AK225686, DC352362, X14767
      Consensus CDS
      CCDS3474.1
      UniProtKB/Swiss-Prot
      P18505
      UniProtKB/TrEMBL
      X5DNL6
      Related
      ENSP00000295454, OTTHUMP00000125281, ENST00000295454, OTTHUMT00000216896
      Conserved Domains (3) summary
      pfam02931
      Location:41243
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250469
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:9472
      LIC; Cation transporter family protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    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
      47031278..47438409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007986.1XP_016863475.1  

    2. XM_017007985.1XP_016863474.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      47032490..47427496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)