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FLASH GENE
Symbol GAD1 contributors: mct/pgu - updated : 17-09-2013
HGNC name glutamate decarboxylase 1 (brain, 67kDa)
HGNC id 4092
Corresponding disease
SSCP symmetrical spastic cerebral palsy, non progressive
Location 2q31.1      Physical location : 171.673.199 - 171.717.657
Synonym name
  • GABA formation,autoantigen in stiff man syndrome, in women affected by breast cancer
  • 67 kDa glutamic acid decarboxylase
  • Synonym symbol(s) GAD, GAD25, GAD67, SCP, FLJ45882
    EC.number 4.1.1.15
    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
    Physical map
    DHRS9 2q31.1 dehydrogenase/reductase (SDR family) member 9 LRP2 2q31-q32.1 low density lipoprotein-related protein 2 DKFZp762I194 2q31.1 hypothetical protein DKFZp762I194 SARCOSIN 2q31.1 hypothetical protein DKFZp762I194 FLJ21901 2q31 hypothetical protein FLJ21901 PPIG 2q31.1 peptidyl-prolyl isomerase G (cyclophilin G) LOC129881 2q31.1 hypothetical LOC129881 MGC22679 2q31.1 hypothetical protein MGC22679 LOC389057 2 similar to hypothetical protein MGC22679 AF357534 2q31.1 thioredoxin 1 pseudogene 7 LOC391459 2 LOC391459 SSB 2q31.1 Sjogren syndrome antigen B (autoantigen LA) HSPC133 2q31.1 HSPC133 protein LOC344287 2q31.1 similar to hypothetical protein A130030D10 KIAA2024 2q31.1 similar to F10G7.10.p MYO3B 2q31.1-q31.2 myosin IIIB LOC389058 2 similar to zinc finger protein Sp5 LOC285140 2q31.1 eukaryotic translation initiation factor 2 beta-like pseudogene LOC389059 2 LOC389059 LOC285141 2q31.1 similar to CG14853-PB GAD1 2q31 glutamate decarboxylase 1 (brain, 67kDa) GORASP2 2p24.3-q21.3 golgi reassembly stacking protein 2, 55kDa TLK1 8p22-p12 tousled-like kinase 1 FLJ13984 2q31.1 hypothetical protein FLJ13984 FLJ13096 2q31.1 hypothetical protein FLJ13096 MRPS29P2 2q31.2 mitochondrial ribosomal protein S29 pseudogene 2 LOC389060 2 similar to ribosomal protein S15 CYBRD1 2q31 cytochrome b reductase 1 LOC391460 2 similar to 60S ribosomal protein L21 DNCI2 2q24-q31 dynein, cytoplasmic, intermediate polypeptide 2 SLC25A12 2q24-q31 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 HAT1 2q31.2-q33.1 histone acetyltransferase 1 MAP1D 2q31.1 methionine aminopeptidase 1D DLX1 2q32 distal-less homeo box 1 DLX2 2q32 distal-less homeo box 2 ITGA6 2q22-q31 integrin, alpha 6
    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