Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GAD1 contributors: mct/pgu - updated : 17-09-2013
HGNC name glutamate decarboxylase 1 (brain, 67kDa)
HGNC id 4092
DNA
TYPE functioning gene
STRUCTURE 44.46 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text
  • three other splice variants may exist (PMID: 17652798)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 3488 66.8 594 - 2000 10671565
  • GAD67
  • being the predominant form of this gene
    • 7 splicing 1272 25.1 224 - 2000 10671565
  • GAD25
  • representing a truncated form of the full-length transcript variant GAD67
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Nervousbrain   predominantly
    Reproductivefemale systembreastmammary gland moderately
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to rattus Gad1 (97.3 pc)
    homolog to murine Gad1 (97.3 pc)
    Homologene
    FAMILY
  • group II decarboxylase family (DDC, GAD, HDC AND TYRDC)
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • vesicle membrane
    • basic FUNCTION
  • involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
  • catalyzing the production of GABA from L-glutamic acid
  • acting as a carboxy-lyase
  • involved in glutamate decarboxylation to succinate
  • potentially involved in variety of skin activities (PMID;
  • adult-like expression of GAD1 emerges quite late in the postnatal period
  • activity-driven expression of GAD1 critically controls GABA synthesis and, thus, vesicular filling of the transmitter
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , other
    signaling neurotransmission
  • neurotransmitter biosynthesis
  • synaptic transmission
    • a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • pyridoxal phosphate
    • protein
  • BASP1 could participate in the transport of GAD2 and GAD1 to the presynaptic termini and their retention on the synaptic vesicles as an anchoring protein
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SSCP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in cortical GABAergic neurons of schizophrenic brain
    Susceptibility to schizophrenia
    Variant & Polymorphism SNP SNP increasing the risk of bipolar affective disorder, and schizophrenia
    Candidate gene autoantigen and autoreactive T cell target in insulin-dependent diabetes
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Gad67 -/- mice