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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
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)
Physical map
LOC348938 5q33.3 hypothetical protein LOC348938 ADAM19 5q32-q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) SOX30 5q33 a disintegrin and metalloproteinase domain 19 (meltrin beta) LOC389341 5 similar to RIKEN cDNA 4921536K21 FLJ20546 5q33.3 hypothetical protein FLJ20546 LSM11 5q33.3 U7 snRNA-associated Sm-like protein ENTH 5q23.1-q33.3 U7 snRNA-associated Sm-like protein LOC391843 5 similar to 60S acidic ribosomal protein P2 LOC345471 5q33.3 similar to Hsp90 co-chaperone Cdc37 (Hsp90 chaperone protein kinase-targeting subunit) (p50Cdc37) LOC285721 5q33.3 hypothetical LOC285721 EBF 5q34 early B-cell factor FLJ31951 5q33.3 hypothetical protein FLJ31951 MGC10067 5q33.3 hypothetical protein MGC10067 IL12B 5q31.1-q33.1 interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ADRA1B 5q33.1 adrenergic, alpha-1B-, receptor TTC1 5q32-q33.2 tetratricopeptide repeat domain 1 KIAA1935 5q34 KIAA1935 protein FABP6 5q23-q35 fatty acid binding protein 6, ileal (gastrotropin) FLJ14166 5q34 hypothetical protein FLJ14166 C1QTNF2 5q33.3 C1q and tumor necrosis factor related protein 2 LOC63920 5q34 transposon-derived Buster3 transposase-like SLU7 5q34 step II splicing factor SLU7 PTTG1 5q35.1 pituitary tumor-transforming 1 FLJ21477 5q34 hypothetical protein FLJ21477 GABRB2 5q33.1-q34 gamma-aminobutyric acid (GABA) A receptor, beta 2 GABRA6 5q33.1-q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 6 GABRA1 5q33.2 gamma-aminobutyric acid (GABA) A receptor, alpha 1 GABRG2 5q31.3-q33.2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 MRP63P6 5q34 mitochondrial ribosomal protein 63 pseudogene 6 CCNG1 5q32-q34 cyclin G1 LOC134492 5q34 similar to RIKEN cDNA 2700047N05 HMMR 5q33.3 hyaluronan-mediated motility receptor (RHAMM) MAT2B 5q34-q35.1 methionine adenosyltransferase II, beta LOC391844 5 similar to beta-tropomyosin LOC391845 5 similar to ribosomal protein S15 LOC391846 5 similar to 60S ribosomal protein L7
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
    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