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MGP001236

UniProt Annotations

Entry Information

Gene Name	glutamate dehydrogenase 1
Protein Entry	DHE3_HUMAN
UniProt ID	P00367
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P00367-1; Sequence=Displayed; Name=2; IsoId=P00367-2; Sequence=VSP_056244; Note=No experimental confirmation available.; Name=3; IsoId=P00367-3; Sequence=VSP_056523, VSP_056524; Note=No experimental confirmation available.;
Catalytic Activity	L-glutamate + H(2)O + NAD(P)(+) = 2- oxoglutarate + NH(3) + NAD(P)H. {ECO:0000255\|PROSITE- ProRule:PRU10011}.
Disease	Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]: Familial hyperinsulinemic hypoglycemia [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. In HHF6 elevated oxidation rate of glutamate to alpha-ketoglutarate stimulates insulin secretion in the pancreatic beta cells, while they impair detoxification of ammonium in the liver. {ECO:0000269\|PubMed:10636977, ECO:0000269\|PubMed:11214910, ECO:0000269\|PubMed:11297618, ECO:0000269\|PubMed:9571255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation	Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme.
Function	Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle. May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). {ECO:0000250}.
Ptm	ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (By similarity). Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer. {ECO:0000250}.
Similarity	Belongs to the Glu/Leu/Phe/Val dehydrogenases family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix.
Subunit	Homohexamer.
Web Resource	Name=Wikipedia; Note=Glutamate dehydrogenase 1 entry; URL="http://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1";