CPS1

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation. [provided by RefSeq, May 2010]

Description

Carbamoyl-phosphate synthase 1

Tissue specificity

Tissue enriched (liver)

Subcell location

Nucleoli, Nucleoli rim

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (210477682 - 210679107)

Ensembl ID

ENSG00000021826  (ver. 103.38)

Orthologs

Mouse Cps1: ENSMUSG00000025991

UniProt

P31327

neXtProt

NX_P31327

Human splice variants
Mouse splice variants

Protein structure