Version 5.4
Homo sapiens Gene: GAD1
Summary
InnateDB Gene IDBG-74724.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GAD1
Gene Name glutamate decarboxylase 1 (brain, 67kDa)
Synonyms CPSQ1; GAD; SCP
Species Homo sapiens
Ensembl Gene ENSG00000128683
Encoded Proteins
IDBP-74726
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-74730
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-74732
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-387430
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-387431
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-387432
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-387433
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-387434
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-589095
glutamate decarboxylase 1 (brain, 67kDa)
IDBP-808165
glutamate decarboxylase 1 (brain, 67kDa)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:170813213-170861151
Strand Forward strand
Band q31.1
Transcripts
ENST00000358196 ENSP00000350928
ENST00000375272 ENSP00000364421
ENST00000344257 ENSP00000341167
ENST00000454603 ENSP00000402366
ENST00000445006 ENSP00000394948
ENST00000455008 ENSP00000405917
ENST00000456864 ENSP00000394255
ENST00000414527 ENSP00000403849
ENST00000429023
ENST00000493875 ENSP00000434696
ENST00000485013
ENST00000486850 ENSP00000476147
ENST00000493270
ENST00000462739
ENST00000488724
ENST00000478562
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 5 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004351 glutamate decarboxylase activity
GO:0005515 protein binding
GO:0016595 glutamate binding
GO:0016829 lyase activity
GO:0016831 carboxy-lyase activity
GO:0030170 pyridoxal phosphate binding
GO:0046982 protein heterodimerization activity
GO:0047485 protein N-terminus binding
Biological Process
GO:0006520 cellular amino acid metabolic process
GO:0006538 glutamate catabolic process
GO:0006540 glutamate decarboxylation to succinate
GO:0007268 synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0008152 metabolic process
GO:0009449 gamma-aminobutyric acid biosynthetic process
GO:0018352 protein-pyridoxal-5-phosphate linkage
GO:0019752 carboxylic acid metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042493 response to drug
Cellular Component
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0012506 vesicle membrane
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000070880
View Gene Order
ENSBTAG00000007258
Not yet available
Pathways
NETPATH
REACTOME
REACT_23947
GABA synthesis, release, reuptake and degradation pathway
REACT_24020
GABA synthesis pathway
REACT_13685
Neuronal System pathway
REACT_13477
Transmission across Chemical Synapses pathway
REACT_13723
Neurotransmitter Release Cycle pathway
KEGG
hsa00430
Taurine and hypotaurine metabolism pathway
hsa00650
Butanoate metabolism pathway
hsa04940
Type I diabetes mellitus pathway
hsa00410
beta-Alanine metabolism pathway
hsa00250
Alanine, aspartate and glutamate metabolism pathway
INOH
INOH website
Glutamate Glutamine metabolism pathway
INOH website
Methionine Cysteine metabolism pathway
INOH website
Alanine Aspartate Asparagine metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.420036 Hs.739106
RefSeq NM_000817 NM_013445 XM_005246443 XM_005246444
HUGO
OMIM
CCDS CCDS2239 CCDS2240
HPRD 12011
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca