Entity Details

Primary name OTC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00480
EntryNameOTC_HUMAN
FullNameOrnithine transcarbamylase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length354
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesOTC

GO terms

Show/Hide Table
GOName
GO:0000050 urea cycle
GO:0001889 liver development
GO:0004585 ornithine carbamoyltransferase activity
GO:0005543 phospholipid binding
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006593 ornithine catabolic process
GO:0007494 midgut development
GO:0010043 response to zinc ion
GO:0016597 amino acid binding
GO:0019240 citrulline biosynthetic process
GO:0032868 response to insulin
GO:0042301 phosphate ion binding
GO:0042450 arginine biosynthetic process via ornithine
GO:0042493 response to drug
GO:0042802 identical protein binding
GO:0043231 intracellular membrane-bounded organelle
GO:0055081 anion homeostasis
GO:0070781 response to biotin
GO:0097272 ammonium homeostasis

Subcellular Location

Show/Hide Table
Subcellular Location
Mitochondrion matrix

Domains

Show/Hide Table
DomainNameCategoryType
IPR002292 Ornithine/putrescine carbamoyltransferaseFamilyFamily
IPR006130 Aspartate/ornithine carbamoyltransferaseFamilyFamily
IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domainDomainDomain
IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P bindingDomainDomain
IPR036901 Aspartate/ornithine carbamoyltransferase superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
311250 OMIMOrnithine carbamoyltransferase deficiency (OTCD)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00129 OrnithineDrugbanksmall molecule
DB00155 CitrullineDrugbanksmall molecule
DB02011 N-(Phosphonoacetyl)-L-OrnithineDrugbanksmall molecule
DB04185 NorvalineDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
OTC_HUMANTOM20_HUMANBioGRID, HPRD9756929 details