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MGP006683

UniProt Annotations

Entry Information
Gene NameN-acetylglutamate synthase
Protein EntryNAGS_HUMAN
UniProt IDQ8N159
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAcetyl-CoA + L-glutamate = CoA + N-acetyl-L- glutamate.
DiseaseN-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]: Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. {ECO:0000269|PubMed:12754705, ECO:0000269|PubMed:15878741}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe Amino-acid kinase domain (AAK) mediates binding of the allosteric activator L-arginine.
Enzyme RegulationIncreased by L-arginine. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:23894642}.
FunctionPlays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity.
PathwayAmino-acid biosynthesis; L-arginine biosynthesis; N(2)- acetyl-L-ornithine from L-glutamate: step 1/4.
PtmProbably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity). {ECO:0000250}.
SimilarityBelongs to the acetyltransferase family. {ECO:0000305}.
SimilarityContains 1 N-acetyltransferase domain. {ECO:0000255|PROSITE-ProRule:PRU00532}.
Subcellular LocationMitochondrion matrix.
SubunitHomodimer. {ECO:0000269|PubMed:23894642}.
Tissue SpecificityHighly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:12754705}.
Web ResourceName=Wikipedia; Note=N-acetylglutamate synthase entry; URL="http://en.wikipedia.org/wiki/N-acetylglutamate_synthase";
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