carbamoyl phosphate synthase-1 (NH3, CPS1)

Function

• role in urea cycle of ureotelic animals where enzyme plays an important role in removing excess ammonia
• catalyzes formation of carbamoyl phosphate from CO2 & NH4+ in urea cycle
• requires N-acetylglutamate as an allosteric activator

2 ATP + NH3 + CO2 + H2O
         <-->
2 ADP + phosphate + carbamoyl phosphate

Structure

• type-1 glutamine amidotransferase domain is defective
• contains 2 ATP-grasp domains
• contains 1 glutamine amidotransferase type-1 domain

Compartment

mitochondria

Alternative splicing

named isoforms=2

Expression

primarily in liver & small intestine

Pathology

• defects in CPS1 are the cause of CPS1 deficiency
• defects in CPS1 are associated with congenital alveolar capillary dysplasia

More general terms

• carbamoyl phosphate synthase
• mitochondrial protein
• urea cycle enzyme

Additional terms

• carbamoylphosphate synthetase deficiency
• urea cycle

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1373
• OMIM: https://mirror.omim.org/entry/237300
• OMIM: https://mirror.omim.org/entry/265380
• OMIM: https://mirror.omim.org/entry/608307
• UniProt: http://www.uniprot.org/uniprot/P31327.html