Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GABRB1 contributors: mct - updated : 18-11-2016
HGNC name gamma-aminobutyric acid (GABA) A receptor, beta 1
HGNC id 4081
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with genes encoding alpha 4, alpha 2 and gamma 1 subunits of the GABA A receptor
STRUCTURE 407.13 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2226 - 474 - 2014 25192656
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral   
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
  • 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