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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
Corresponding disease
EIEE19 epileptic encephalopathy, early infantile, 19
EJM5 myoclonic epilepsy, juvenile, 5
Location 5q33.2      Physical location : 161.274.196 - 161.326.963
Synonym symbol(s) GAA1, GABAAR-alpha1
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 52.77 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - D5S2916 - D5S380 - D5S2917 - ADRA1B - D5S403 - D5S429 - GABRB2 - GABRA6 - GABRA1 - GABRG2 - D5S422 - HMMR - qter
Authors Westbrook (92), Kostrzewa (98)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 4376 - 456 - 1998 9781031
11 - 4263 - 456 - 1998 9781031
10 - 4000 - 456 - 1998 9781031
10 - 4412 - 456 - 1998 9781031
10 - 4067 - 456 - 1998 9781031
9 - 4022 - 456 - 1998 9781031
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
 brainhindbraincerebellum highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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