QuickView for Gad1 (gene)

Gene Symbol:

GAD1 Homo sapiens

Full name:

glutamate decarboxylase 1

Synonyms:

CPSQ1, GAD, SCP, glutamate decarboxylase 1, 67 kDa glutamic acid decarboxylase, GAD-67, glutamate decarboxylase 1 (brain, 67kDa), glutamate decarboxylase 67 kDa isoform

Genomic Location:

Chr 2: 171381446-171425907

Description:

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 identif...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  CTTGTAT_MIR381 ,  CACTGTG_MIR128A_MIR128B ,  SP1_01 ,  GCATTTG_MIR105 ,  TTANTCA_UNKNOWN ,  MZF1_01 ,  AP3_Q6 ,  TTTGTAG_MIR520D ,  WGTTNNNNNAAA_UNKNOWN ,  ATGTACA_MIR493 ,  ACCAATC_MIR509 ,  RGAANNTTC_HSF1_01 ,  GGATTA_PITX2_Q2 ,  LFA1_Q6 ,  P53_02 ,  CDX2_Q5 ,  CAGGTG_E12_Q6 ,  ATACCTC_MIR202 ,  HSF1_01 ,  EVI1_02 ,  EGR_Q6 ,  ACCAAAG_MIR9 ,  GGGCGGR_SP1_Q6 ,  ATGTTAA_MIR302C ,  AREB6_01 ,  PITX2_Q2 ,  NKX25_02 ,  HSF2_01 ,  HMGIY_Q6 ,  YTAAYNGCT_UNKNOWN ,  MSX1_01 ,  TGACAGNY_MEIS1_01 ,  CCANNAGRKGGC_UNKNOWN ,  CTTTGT_LEF1_Q2 ,  YRCCAKNNGNCGC_UNKNOWN ,  ACAWYAAAG_UNKNOWN ,  DR4_Q2 ,  GTTAAAG_MIR302B ,  TCCAGAG_MIR518C

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-128 ,  Predicted Gene Targets for miR-146 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-24 ,  Predicted Gene Targets for miR-381 ,  Predicted Gene Targets for miR-9 ,  Predicted Gene Targets for miR-410 ,  Predicted Gene Targets for miR-493-5p

Cytogenetic Map:

2q31.1

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