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MGP001143

Record overview

MGPD IDMGP001143
Gene ID2571
SpeciesHomo sapiens (Human)
Gene Nameglutamate decarboxylase 1 (brain, 67kDa)
Gene Symbol GAD1
SynonymsGAD; SCP; CPSQ1;
Alternate namesglutamate decarboxylase 1; 67 kDa glutamic acid decarboxylase; GAD-67; glutamate decarboxylase 67 kDa isoform;
Chromosome2
Map Location2q31
EC Number4.1.1.15
SummaryThis 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, Jul 2008]
OrthologsView orthologs and multiple alignments for GAD1

Proteins

glutamate decarboxylase 1 isoform GAD25
Refseq ID:NP_038473
Protein GI:15451889
UniProt ID:Q99259
mRNA ID:NM_013445
Length:224
RefSeq Status:
MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFA
RDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGL
AGEWLTSTANTNMPSDMRECWLLR
 
glutamate decarboxylase 1 isoform GAD67
Refseq ID:NP_000808
Protein GI:58331246
UniProt ID:Q8IVA8
mRNA ID:NM_000817
Length:594
RefSeq Status:
MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEKSRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFA
RDLLPAKNGEEQTVQFLLEVVDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGVRTGHPRFFNQLSTGLDIIGL
AGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWSSKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA
LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIADICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVT
WNPHKMMGVLLQCSAILVKEKGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQINKCLELAEYLYAKIKNREEF
EMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAPKIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL
 
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