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MGP002176

UniProt Annotations

Entry Information
Gene Nameornithine carbamoyltransferase
Protein EntryOTC_HUMAN
UniProt IDP00480
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCarbamoyl phosphate + L-ornithine = phosphate + L-citrulline.
DiseaseOrnithine carbamoyltransferase deficiency (OTCD) [MIM:311250]: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. {ECO:0000269|PubMed:10070627, ECO:0000269|PubMed:10502831, ECO:0000269|PubMed:10737985, ECO:0000269|PubMed:11793483, ECO:0000269|PubMed:1480464, ECO:0000269|PubMed:1671317, ECO:0000269|PubMed:1721894, ECO:0000269|PubMed:2347583, ECO:0000269|PubMed:2474822, ECO:0000269|PubMed:3170748, ECO:0000269|PubMed:7474905, ECO:0000269|PubMed:7951259, ECO:0000269|PubMed:8019569, ECO:0000269|PubMed:8081373, ECO:0000269|PubMed:8081398, ECO:0000269|PubMed:8099056, ECO:0000269|PubMed:8530002, ECO:0000269|PubMed:8807340, ECO:0000269|PubMed:8830175, ECO:0000269|PubMed:8956038, ECO:0000269|PubMed:8956045, ECO:0000269|PubMed:9143919, ECO:0000269|PubMed:9266388, ECO:0000269|PubMed:9286441, ECO:0000269|PubMed:9452024, ECO:0000269|PubMed:9452049, ECO:0000269|PubMed:9452065, ECO:0000269|Ref.29, ECO:0000269|Ref.40}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationNegatively regulated by lysine acetylation. {ECO:0000269|PubMed:19318352}.
PathwayNitrogen metabolism; urea cycle; L-citrulline from L- ornithine and carbamoyl phosphate: step 1/1.
PtmAcetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. {ECO:0000269|PubMed:19318352}.
SimilarityBelongs to the ATCase/OTCase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix.
SubunitHomotrimer. {ECO:0000269|PubMed:10813810, ECO:0000269|PubMed:9852088}.
Tissue SpecificityMainly expressed in liver and intestinal mucosa.
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