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
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