CPS1 (gene)

CPS1
Identifiers
Aliases	CPS1, PHN, carbamoyl-phosphate synthase 1, CPSASE1, GATD6
External IDs	OMIM: 608307; MGI: 891996; GeneCards: CPS1
Available structures PDB Ortholog search: A0A3T0V883 PDBe A0A3T0V883 RCSB List of PDB id codes 2YVQ, 5DOU, 5DOT, 4UUA, 4UTV, 4UTR, 4UUB, 4UU8, 4UTZ, 4UU7
Enzyme activity EC # BRENDA ExPASy KEGG MetaCyc 6.3.4.16 ↗ ↗ ↗ ↗
Gene location (Human) Chr. Chromosome 2 (human) Band 2q34 Start 210,477,682 bp End 210,679,107 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C3|1 33.75 cM Start 67,162,185 bp End 67,270,418 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in liver right lobe of liver jejunal mucosa duodenum buccal mucosa cell mucosa of ileum secondary oocyte internal globus pallidus gonad male germ cell Top expressed in left lobe of liver epithelium of small intestine migratory enteric neural crest cell Ileal epithelium Paneth cell gallbladder crypt of lieberkuhn of small intestine jejunum duodenum sexually immature organism More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding calcium ion binding endopeptidase activity metal ion binding ligase activity modified amino acid binding catalytic activity protein binding phospholipid binding ATP binding glutamate binding carbamoyl-phosphate synthase (ammonia) activity carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity protein-containing complex binding aspartate carbamoyltransferase activity dihydroorotase activity Cellular component cytoplasm mitochondrial matrix mitochondrion mitochondrial inner membrane mitochondrial nucleoid nucleus nucleolus protein-containing complex Biological process response to amino acid response to glucagon anion homeostasis response to steroid hormone cellular response to glucagon stimulus hepatocyte differentiation response to zinc ion nitrogen compound metabolic process response to glucocorticoid cellular response to fibroblast growth factor stimulus proteolysis response to dexamethasone triglyceride catabolic process nitric oxide metabolic process response to lipopolysaccharide glutamine metabolic process carbamoyl phosphate biosynthetic process response to amine response to growth hormone response to food response to starvation liver development metabolism response to cAMP homocysteine metabolic process response to toxic substance citrulline biosynthetic process response to oleic acid cellular response to cAMP cellular response to oleic acid midgut development 'de novo' pyrimidine nucleobase biosynthetic process vasodilation urea cycle arginine biosynthetic process Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 1373 227231 Ensembl ENSG00000021826 ENSMUSG00000025991 UniProt P31327 Q8C196 RefSeq (mRNA) NM_001122633 NM_001122634 NM_001875 NM_001369256 NM_001369257 NM_001080809 RefSeq (protein) NP_001116105 NP_001866 NP_001356185 NP_001356186 NP_001074278 Location (UCSC) Chr 2: 210.48 – 210.68 Mb Chr 1: 67.16 – 67.27 Mb PubMed search
Wikidata
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Carbamoyl-phosphate synthase 1 is an protein that in humans is encoded by the CPS1.

Function

Carbamoyl phosphate synthetase I, is a mitochondrial enzyme that catalyzes the first and rate-limiting step of the urea cycle through converting ammonia and bicarbonate into carbamoyl phosphate. This reaction enables the removal of excess nitrogen from the body by converting toxic ammonia into urea, which is then excreted by the kidneys.

Clnical significance

Mutations in the CPS1 gene can lead to carbamoyl phosphate synthetase I deficiency, an inherited metabolic disorder that causes hyperammonemia.