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FLASH GENE
Symbol GABRA1 contributors: mct - updated : 28-01-2012
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 1
HGNC id 4075
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 and a large intracellular loop
  • HOMOLOGY
    interspecies homolog to murine Gabra1
    Homologene
    FAMILY ligand-gated ionic channel family
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • can translocate into synapses in response to electrical stimulation
  • NPTN specifically co-localizes with GABRA1 and GABRA2 but not with GABRA3 subunits at GABAergic synapses
  • basic FUNCTION
  • mediating neuronal inhibition by binding to
  • the GABA/benzodiazepine receptor and opening an integral chloride channel
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NPTN interacts with subtypes of GABRA1 in inhibitory synapses (pMID: 24554721)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EJM5 , EIEE19
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in brains of subjects with autism
    Susceptibility
  • to mood disorder
  • to schizophrenia
  • Variant & Polymorphism SNP increasing the risk of schizophrenia
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    important target for drug development against pain
    ANIMAL & CELL MODELS