ID:CPSM_HUMAN DESCRIPTION: RecName: Full=Carbamoyl-phosphate synthase [ammonia], mitochondrial; EC=6.3.4.16; AltName: Full=Carbamoyl-phosphate synthetase I; Short=CPSase I; Flags: Precursor; FUNCTION: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell. CATALYTIC ACTIVITY: 2 ATP + NH(3) + CO(2) + H(2)O = 2 ADP + phosphate + carbamoyl phosphate. ENZYME REGULATION: Requires N-acetyl-L-glutamate (NAG) as an allosteric activator. INTERACTION: P10398:ARAF; NbExp=3; IntAct=EBI-536811, EBI-365961; P04049:RAF1; NbExp=4; IntAct=EBI-536811, EBI-365996; SUBCELLULAR LOCATION: Mitochondrion. Nucleus, nucleolus. TISSUE SPECIFICITY: Primarily in the liver and small intestine. DOMAIN: The type-1 glutamine amidotransferase domain is defective. PTM: Succinylated at Lys-287 and Lys-1291. Desuccinylated at Lys- 1291 by SIRT5, leading to activation (By similarity). DISEASE: Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]. CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. DISEASE: Note=Genetic 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. SIMILARITY: Contains 2 ATP-grasp domains. SIMILARITY: Contains 1 glutamine amidotransferase type-1 domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPS1"; WEB RESOURCE: Name=LOVD-Leiden Open Variation Database; Note=Carbamoyl-Phosphate Synthetase 1 (CPS1); URL="http://chromium.liacs.nl/lovd2/home.php?select_db=CPS1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P31327
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
