Carbamoyl phosphate synthetase I

Preferred Label : Carbamoyl phosphate synthetase I;

Symbol : CPS1;

CISMeF acronym : CPS1;

Type : Gene and phenotype, combined;

Included titles and symbols : Venoocclusive disease after bone marrow transplantation, susceptibility to;

Description : Carbamoyl phosphate synthetase I (EC 6.3.4.16) is the rate-limiting enzyme that catalyzes the first committed step of the hepatic urea cycle by synthesizing carbamoyl phosphate from ammonia, bicarbonate, and 2 molecules of ATP (summary by Haberle et al., 2011). The mitochondrial isozyme is designated CPS I and the cytoplasmic enzyme CPS II. CPS II is part of a multifunctional enzyme, called the CAD trifunctional protein of pyrimidine biosynthesis (CAD; 114010), which has been mapped to 2p21.;

Prefixed ID : 608307;

Details

Origin ID

608307;

UMLS CUI

C1413683;

Automatic exact mappings (from CISMeF team)
- CYP21A2 wt Allele [NCIt concept]
- Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial [NCIt concept]
- Carbamoyl-Phosphate synthase (Ammonia) [MeSH concept]
- carbamoyl-phosphate synthase (ammonia) [MeSH Descriptor]
- carbamoyl-phosphate synthase 1 [ORDO Gene]
- cytochrome P450 family 21 subfamily A member 2 [ORDO Gene]
- cytochrome P450 family 21 subfamily A member 2 [HGNC gene]
Currated CISMeF NLP mapping
- CPS1 Gene [NCIt concept]
- CPS1 gene [LOINC component]
- carbamoyl-phosphate synthase 1 [HGNC gene]
NCIt concept(s)
- CPS1 Gene [NCIt concept]
- CPS1 wt Allele [NCIt concept]
- Carbamoyl-Phosphate Synthase [Ammonia], Mitochondrial [NCIt concept]
ORDO concept(s)
- carbamoyl-phosphate synthase 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CPS1 Gene [NCIt concept]
- CPS1 gene [LOINC component]
- carbamoyl-phosphate synthase 1 [HGNC gene]
Validated automatic mappings to BTNT
- CPS1 wt Allele [NCIt concept]

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