InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GAD1

Summary

InnateDB Protein

IDBP-74726.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GAD1

Protein Name

glutamate decarboxylase 1 (brain, 67kDa)

Synonyms

CPSQ1; GAD; SCP;

Species

Homo sapiens

Ensembl Protein

ENSP00000350928

InnateDB Gene

IDBG-74724 (GAD1)

Protein Structure

UniProt Annotation

Function

Catalyzes the production of GABA.

Subcellular Localization

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.

Tissue Specificity

Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO:0000269PubMed:10671565}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000192 Aminotransferase class V domain
IPR001597 Aromatic amino acid beta-eliminating lyase/threonine aldolase
IPR002129 Pyridoxal phosphate-dependent decarboxylase
IPR015424 Pyridoxal phosphate-dependent transferase

PFAM

PF00266
PF01212
PF00282

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q99259

PhosphoSite