ID:DHE3_HUMAN DESCRIPTION: RecName: Full=Glutamate dehydrogenase 1, mitochondrial; Short=GDH 1; EC=1.4.1.3; Flags: Precursor; FUNCTION: May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). CATALYTIC ACTIVITY: L-glutamate + H(2)O + NAD(P)(+) = 2- oxoglutarate + NH(3) + NAD(P)H. 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. SUBUNIT: Homohexamer. SUBCELLULAR LOCATION: Mitochondrion matrix. PTM: Stoichiometry shows that ADP-ribosylation occurs in one subunit per catalytically active homohexamer. DISEASE: Defects in GLUD1 are the cause of familial hyperinsulinemic hypoglycemia type 6 (HHF6) [MIM:606762]; also known as hyperinsulinism-hyperammonemia syndrome (HHS). 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. SIMILARITY: Belongs to the Glu/Leu/Phe/Val dehydrogenases family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GLUD1"; WEB RESOURCE: Name=Wikipedia; Note=Glutamate dehydrogenase 1 entry; URL="http://en.wikipedia.org/wiki/Glutamate_dehydrogenase_1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00367
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006520 cellular amino acid metabolic process GO:0006537 glutamate biosynthetic process GO:0006538 glutamate catabolic process GO:0006541 glutamine metabolic process GO:0008652 cellular amino acid biosynthetic process GO:0021762 substantia nigra development GO:0032024 positive regulation of insulin secretion GO:0055114 oxidation-reduction process GO:0072350 tricarboxylic acid metabolic process