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Description for Protein CPS1

carbamoyl-phosphate synthase 1, mitochondrial
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
6.3.4.16
KEGG - Orthology:
K01948
KEGG - Pathway(s):
hsa00250; hsa00330; hsa00910; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
CPSASE I
Approved Symbol:
CPS1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 28
Human (de-) phosphorylation sites: 28; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Carglumic acid(db)

    Associated Genetic Diseases:

  • Carbamoyl phosphate synthetase i deficiency(Pd);
  • Pulmonary hypertension, familial persistent, of the newborn, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01995 Entrez Gene ID: 1373 OMIM ID: 608307 Swissprot Accession: Q05CV6; P31327; Q53TL5;