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Details on Person UniProt:Q99259 GAD1
| Class:Id | ReferenceGeneProduct:53440 |
|---|---|
| _chainChangeLog | chain:1-594 added on Sat February 7 2015 |
| _displayName | UniProt:Q99259 GAD1 |
| _timestamp | 2025-02-21 18:45:47 |
| chain | chain:1-594 |
| checksum | 6D761C471C81FDAE |
| comment | FUNCTION Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor.FUNCTION Enzymatically inactive as glutamate decarboxylase.CATALYTIC ACTIVITY L-glutamate + H(+) = 4-aminobutanoate + CO2COFACTOR Homodimer.INTERACTION Expressed in brain.TISSUE SPECIFICITY Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the group II decarboxylase family.ONLINE INFORMATION Glutamate decarboxylase entry |
| description | recommendedName: Glutamate decarboxylase 1 ecNumber evidence="3 5"4.1.1.15 alternativeName: 67 kDa glutamic acid decarboxylase shortName: GAD-67 alternativeName: Glutamate decarboxylase 67 kDa isoform |
| geneName | GAD1 GAD GAD67 |
| identifier | Q99259 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Decarboxylase Disease variant Epilepsy Intellectual disability Lyase Neurotransmitter biosynthesis Phosphoprotein Proteomics identification Pyridoxal phosphate Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | GAD1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988349] ENSEMBL:ENSG00000128683 GAD1 [Homo sapiens] |
| secondaryIdentifier | DCE1_HUMAN Q49AK1 Q53TQ7 Q9BU91 Q9UHH4 |
| sequenceLength | 594 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:146247] UniProt:Q99259-2 GAD1 [Homo sapiens] [ReferenceIsoform:146248] UniProt:Q99259-3 GAD1 [Homo sapiens] [ReferenceIsoform:413136] UniProt:Q99259-1 GAD1 [Homo sapiens] [ReferenceIsoform:8968254] UniProt:Q99259-4 GAD1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:888580] PXLP-K405-GAD1 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane] [Homo sapiens] [EntityWithAccessionedSequence:947477] PXLP-K405-GAD1 [plasma membrane] [Homo sapiens] |
| (referenceSequence) | [ModifiedResidue:9644713] N6-pyridoxal phosphate-L-lysine at 405 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q99259 GAD1 (53440)
