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FLASH GENE
Symbol GABRA5 contributors: mct - updated : 19-12-2018
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 5
HGNC id 4079
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
    • mono polymer pentamer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • gamma-aminobutyric acid (GABA) A receptor, ionotropic, alpha 5, mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
  • modulates the induction of long-term potentiation at ventral but not dorsal CA1 hippocampal synapses
  • likely play a role in the loss of GABAergic inhibition and contribute to long-lasting secondary allodynia and hyperalgesia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GABRA5-activity increases during inflammation and this increase is critical for inflammation-induced memory deficits
  • GABRA5 concentrate extrasynaptically through RDX-mediated anchorage at the actin cytoskeleton
  • intimate association of GABRA5 with GPHN, resulting in constant synaptic levels of GABRA5 throughout circuit formation that regulates neuronal development
  • CDK5 cooperates with GABRA5 to regulate neuronal development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE79
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    mapped within the commonly deleted PWS/AS region
    constitutional germinal mutation     loss of function
    in autism-like behaviors
    Susceptibility
  • susceptibility to bipolar affective disorder (? MAFD10)
  • to Panic disorder (PD)
    • Variant & Polymorphism SNP
  • rs2075716, and rs35399885, are associated to PD
    • Candidate gene GABA A-receptor subunit genes are candidate genes for autism (see GABRB3)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gabra5-null mice and alpha5 subunit((H105R)) knock-in mice exhibit signs of hippocampal dysfunction, but are capable of improved performance in several learning and memory tasks
  • in alpha5(H105R) mice a behavioral-cognitive phenotype affecting basal locomotion and the memory for location of objects indicative of hippocampal dysfunction resulting from moderately decreased alpha5-subunit contents
  • deletion of Gabra5 caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations