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MGP001143

UniProt Annotations

Entry Information
Gene Nameglutamate decarboxylase 1 (brain, 67kDa)
Protein EntryDCE1_HUMAN
UniProt IDQ99259
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GAD67; IsoId=Q99259-1; Sequence=Displayed; Name=2; IsoId=Q99259-2; Sequence=Not described; Name=3; Synonyms=GAD25; IsoId=Q99259-3; Sequence=VSP_009123, VSP_009124; Note=Lacks enzymatic activity.; Name=4; IsoId=Q99259-4; Sequence=VSP_054473, VSP_054474; Note=No experimental confirmation available.;
Catalytic ActivityL-glutamate = 4-aminobutanoate + CO(2).
CofactorName=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence={ECO:0000269|PubMed:17384644};
DiseaseCerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture. {ECO:0000269|PubMed:15571623}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the production of GABA.
InteractionP16333:NCK1; NbExp=2; IntAct=EBI-743184, EBI-389883;
SimilarityBelongs to the group II decarboxylase family. {ECO:0000305}.
SubunitHomodimer. {ECO:0000269|PubMed:17384644}.
Tissue SpecificityIsoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO:0000269|PubMed:10671565}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/gad1/";
Web ResourceName=Wikipedia; Note=Glutamate decarboxylase entry; URL="http://en.wikipedia.org/wiki/Glutamate_decarboxylase";
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