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FLASH GENE
Symbol GABRB1 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 1
HGNC id 4081
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region
  • four transmembrane segments (4TM), one of which forming the wall of the channel
  • a large intracellular loop
    • HOMOLOGY
    interspecies ortholog to murine Gabrb1
    homolog to Drosophila Lcch3
    homolog to C.elegans T21C12.1d
    Homologene
    FAMILY ligand-gated ionic channel family
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    intracellular,nuclear envelope
    basic FUNCTION
  • mediating the fastest inhibitory synaptic transmission in the central nervous system
  • involved in inhibitory effects on neurotransmission, and associate with the formation of protease-resistant prion protein in prion-infected neuroblastoma cells
  • important link between GABRB1 function and increased alcohol consumption that could underlie some forms of alcohol abuse
  • is responsible for mediating inhibitory neurotransmission in the thalamus
  • involvement of the GABRB1 gene in the thalamus structure and their interactive effects on intelligence
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text chloride channel
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component component of a pentameric receptor (alpha, beta, gamma, delta and rho)
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to GABA
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE45
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the Folic acid (FA)-treated cells in a concentration-dependent manner
    constitutional     --low  
    GABRB1 disruption has been implicated in autism
    Susceptibility to high alcohol consumption
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS