CPS1 Antibody – Rabbit Polyclonal

Function: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. HAMAP-Rule MF_01209

Catalytic activity: 2 ATP + NH3 + CO2 + H2O = 2 ADP + phosphate + carbamoyl phosphate. HAMAP-Rule MF_01209

Enzyme regulation: Requires N-acetyl-L-glutamate (NAG) as an allosteric activator. HAMAP-Rule MF_01209

Subcellular location: Mitochondrion. Nucleus › nucleolus Ref.15.

Tissue specificity: Primarily in the liver and small intestine.

Domain: The type-1 glutamine amidotransferase domain is defective. HAMAP-Rule MF_01209

Post-translational modification: Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys-1291 by SIRT5, leading to activation

By similarity. HAMAP-Rule MF_01209

Involvement in disease: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.5 Ref.6 Ref.17 Ref.18 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26Genetic variations in CPS1 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. Ref.25

Sequence similarities: Contains 2 ATP-grasp domains.Contains 1 glutamine amidotransferase type-1 domain.

Sequence caution: The sequence BAD92037.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.