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Description for Protein GAD1

glutamate decarboxylase 1 (brain, 67kDa)
6 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
4.1.1.15
KEGG - Orthology:
K01580
KEGG - Pathway(s):
hsa00250; hsa00410; hsa00430; hsa00650; hsa01100; hsa04940
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
GAD; EC 4.1.1.15; Glutamate decarboxylase 67 kDa; 67 kDa glutamic acid decarboxylase; Glutamate decarboxylase, brain, 67-KD; Glutamate decarboxylase 1 isoform GAD67; Glutamate decarboxylase 1 isoform GAD25
Approved Symbol:
GAD1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • L-Glutamic Acid(db);
  • Pyridoxal Phosphate(db)

    Associated Genetic Diseases:

  • Cerebral palsy, spastic, symmetric, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 12011 Entrez Gene ID: 2571 OMIM ID: 605363 Swissprot Accession: Q99259; Q8IVA8; Q53TQ7;