CPS1

CPS1 (Carbamoyl-Phosphate Synthase 1) is a Protein Coding gene. Diseases associated with CPS1 include Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To and Pulmonary Hypertension, Neonatal. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is CAD.

Carbamoyl-Phosphate Synthase 1

Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.

de novo' pyrimidine nucleobase biosynthetic process Source: InterPro
Anion homeostasis Source: Ensembl
Carbamoyl phosphate biosynthetic process Source: UniProtKB
Cellular response to ammonium ion Source: BHF-UCL
Cellular response to cAMP Source: Ensembl
Cellular response to fibroblast growth factor stimulus Source: Ensembl
Cellular response to glucagon stimulus Source: Ensembl
Cellular response to oleic acid Source: Ensembl
Citrulline biosynthetic process Source: BHF-UCL
Glutamine metabolic process Source: GO_Central
Hepatocyte differentiation Source: Ensembl
Homocysteine metabolic process Source: UniProtKB
Midgut development Source: Ensembl
Nitric oxide metabolic process Source: BHF-UCL
Nitrogen compound metabolic process Source: GO_Central
Response to amine Source: Ensembl
Response to amino acid Source: Ensembl
Response to dexamethasone Source: Ensembl
Response to drug Source: Ensembl
Response to food Source: Ensembl
Response to growth hormone Source: Ensembl
Response to lipopolysaccharide Source: UniProtKB
Response to starvation Source: Ensembl
Response to toxic substance Source: Ensembl
Response to zinc ion Source: Ensembl
Triglyceride catabolic process Source: BHF-UCL
Urea cycle Source: Reactome
Vasodilation Source: BHF-UCL

Nucleolus; Mitochondrion

Carbamoyl phosphate synthetase 1 deficiency (CPS1D):
An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation.
Pulmonary hypertension, neonatal (PHN):
Disease susceptibility is associated with variants affecting the gene represented in this entry. CPS1 variants influence the availability of precursors for nitric oxide (NO) synthesis and play a role in clinical situations where endogenous NO production is critically important, such as neonatal pulmonary hypertension, increased pulmonary artery pressure following surgical repair of congenital heart defects or hepatovenocclusive disease following bone marrow transplantation. Infants with neonatal pulmonary hypertension homozygous for Thr-1406 have lower L-arginine concentrations than neonates homozygous for Asn-1406 (PubMed:11407344). A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease.

Undergoes proteolytic cleavage in the C-terminal region corresponding to the loss of approximately 12 AA residues from the C-terminus.
Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation (By similarity).
Glutarylated. Glutarylation levels increase during fasting. Deglutarylated by SIRT5 at Lys-55, Lys-219, Lys-412, Lys-889, Lys-892, Lys-915, Lys-1360 and Lys-1486, leading to activation.