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FLASH GENE

Symbol

GAD1

contributors: mct/pgu - updated : 17-09-2013

HGNC name	glutamate decarboxylase 1 (brain, 67kDa)
HGNC id	4092

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine parathyroid       highly Nervous brain       predominantly Reproductive female system breast mammary gland   moderately Respiratory respiratory tract larynx     highly Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol not specific fibroblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to rattus Gad1 (97.3 pc)
	homolog to murine Gad1 (97.3 pc)

Homologene

FAMILY

group II decarboxylase family (DDC, GAD, HDC AND TYRDC)

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	vesicle membrane

basic FUNCTION	involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)
	catalyzing the production of GABA from L-glutamic acid
	acting as a carboxy-lyase
	involved in glutamate decarboxylation to succinate
	potentially involved in variety of skin activities (PMID;
	adult-like expression of GAD1 emerges quite late in the postnatal period
	activity-driven expression of GAD1 critically controls GABA synthesis and, thus, vesicular filling of the transmitter

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid , other

signaling

neurotransmission

	neurotransmitter biosynthesis
	synaptic transmission

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal phosphate

protein

BASP1 could participate in the transport of GAD2 and GAD1 to the presynaptic termini and their retention on the synaptic vesicles as an anchoring protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SSCP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in cortical GABAergic neurons of schizophrenic brain

Susceptibility

to schizophrenia

Variant & Polymorphism SNP	SNP increasing the risk of bipolar affective disorder, and schizophrenia

Candidate gene	autoantigen and autoreactive T cell target in insulin-dependent diabetes
Marker
Therapy target

ANIMAL & CELL MODELS

Gad67 -/- mice