GAD1

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

PDBOrtholog search: PDBe RCSB

AliasesGAD1, CPSQ1, GAD, SCP, glutamate decarboxylase 1, DEE89

External IDsOMIM: 605363; MGI: 95632; HomoloGene: 635; GeneCards: GAD1; OMA:GAD1 - orthologs

Chr.Chromosome 2 (human)^[1]

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GAD1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2OKJ, 3VP6
Identifiers
Aliases	GAD1, CPSQ1, GAD, SCP, glutamate decarboxylase 1, DEE89
External IDs	OMIM: 605363; MGI: 95632; HomoloGene: 635; GeneCards: GAD1; OMA:GAD1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 170,813,213 bp[1] End 170,861,151 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C2|2 41.63 cM Start 70,383,416 bp[2] End 70,432,358 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell middle temporal gyrus Brodmann area 23 Brodmann area 10 external globus pallidus lateral nuclear group of thalamus primary visual cortex frontal pole orbitofrontal cortex paraflocculus of cerebellum Top expressed in lateral septal nucleus pallidum of neuraxis globus pallidus dorsal tegmental nucleus lobe of cerebellum cerebellar vermis lateral geniculate nucleus olfactory tubercle nucleus accumbens dorsomedial hypothalamic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding catalytic activity lyase activity protein heterodimerization activity pyridoxal phosphate binding carboxy-lyase activity glutamate binding glutamate decarboxylase activity protein N-terminus binding Cellular component vesicle membrane plasma membrane clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane intracellular anatomical structure presynaptic active zone cytoplasm cell cortex axon axon terminus neuron projection terminus synapse inhibitory synapse Biological process gamma-aminobutyric acid biosynthetic process glutamate catabolic process carboxylic acid metabolic process neurotransmitter biosynthetic process protein-pyridoxal-5-phosphate linkage glutamate decarboxylation to succinate chemical synaptic transmission social behavior locomotory exploration behavior neurotransmitter secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2571 14415 Ensembl ENSG00000128683 ENSMUSG00000070880 UniProt Q99259 P48318 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 Mb Chr 2: 70.38 – 70.43 Mb PubMed search [3] [4]
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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.^[5]