CPS1
Carbamoyl-phosphate synthase [ammonia], mitochondrial
Protein Summary
Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. 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]
- ENST00000233072
- ENSP00000233072
- ENSG00000021826
- ENST00000430249
- ENSP00000402608
- ENST00000451903
- ENSP00000406136
- PHN
- CPSASE1
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
molecular function | 1 | ||
protein domain | 1 | ||
biological process | 0.98 | ||
disease | 0.8 | ||
cellular component | 0.79 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 143.12 (req: < 5)
Gene RIFs: 65 (req: <= 3)
Antibodies: 402 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 143.12 (req: >= 5)
Gene RIFs: 65 (req: > 3)
Antibodies: 402 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 36
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 7
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 1