InnateDB Protein
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IDBP-74730.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GAD1
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Protein Name
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glutamate decarboxylase 1 (brain, 67kDa)
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Synonyms
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CPSQ1; GAD; SCP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000364421
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InnateDB Gene
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IDBG-74724 (GAD1)
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Protein Structure
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Function |
Catalyzes the production of GABA.
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Subcellular Localization |
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Disease Associations |
Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture. {ECO:0000269PubMed:15571623}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO:0000269PubMed:10671565}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR002129
Pyridoxal phosphate-dependent decarboxylase
IPR015424
Pyridoxal phosphate-dependent transferase
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PFAM |
PF00282
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q99259
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PhosphoSite |
PhosphoSite-Q99259
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TrEMBL |
C9JT43
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UniProt Splice Variant |
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Entrez Gene |
2571
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UniGene |
Hs.739106
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RefSeq |
NP_038473
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HUGO |
HGNC:4092
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OMIM |
605363
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CCDS |
CCDS2240
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HPRD |
12011
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IMGT |
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EMBL |
AC007405
AF178853
AY337516
BC002815
BC026349
BC036552
CH471058
L16888
M55574
M70434
M81883
M86522
S61897
S61898
Z22750
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GenPept |
AAA35900
AAA52512
AAA62368
AAA72938
AAB26937
AAB26938
AAB59427
AAF18390
AAH02815
AAH26349
AAH36552
AAP88035
AAY24237
CAA80435
EAX11228
EAX11229
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