GAD1

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GAD1
Protein GAD1 PDB 2okj.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGAD1, CPSQ1, GAD, SCP, glutamate decarboxylase 1
External IDsOMIM: 605363 MGI: 95632 HomoloGene: 635 GeneCards: GAD1
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for GAD1
Genomic location for GAD1
Band2q31.1Start170,813,213 bp[1]
End170,861,151 bp[1]
RNA expression pattern
PBB GE GAD1 205278 at fs.png

PBB GE GAD1 206670 s at fs.png

PBB GE GAD1 206669 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000817
NM_013445

NM_008077
NM_001312900

RefSeq (protein)

NP_000808
NP_038473

NP_001299829
NP_032103

Location (UCSC)Chr 2: 170.81 – 170.86 MbChr 2: 70.55 – 70.6 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glutamate decarboxylase 1 (brain, 67kDa) (GAD67), also known as GAD1, is a human gene.[5]

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.[5]

Interactions[edit]

GAD1 has been shown to interact with GAD2.[6]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128683 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000070880 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: GAD1 glutamate decarboxylase 1 (brain, 67kDa)".
  6. ^ Dirkx R, Thomas A, Li L, Lernmark A, Sherwin RS, De Camilli P, Solimena M (February 1995). "Targeting of the 67-kDa isoform of glutamic acid decarboxylase to intracellular organelles is mediated by its interaction with the NH2-terminal region of the 65-kDa isoform of glutamic acid decarboxylase". J. Biol. Chem. 270 (5): 2241–6. doi:10.1074/jbc.270.5.2241. PMID 7836456.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.