|
gptkbp:instanceOf
|
gptkb:enzyme
|
|
gptkbp:associatedWith
|
gptkb:Carbamoyl_phosphate_synthetase_I_deficiency
|
|
gptkbp:clinicalTrialPhase
|
plasma ammonia measurement
|
|
gptkbp:cofactor
|
N-acetylglutamate
|
|
gptkbp:deficiencyCauses
|
hyperammonemia
|
|
gptkbp:EC_number
|
6.3.4.16
|
|
gptkbp:fullName
|
gptkb:Carbamoyl_phosphate_synthetase_I
|
|
gptkbp:function
|
catalyzes the synthesis of carbamoyl phosphate from ammonia and bicarbonate
|
|
gptkbp:gene
|
gptkb:CPS1
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CPS-1
|
|
gptkbp:inhibitedBy
|
not inhibited by ornithine or citrulline
|
|
gptkbp:locatedOnChromosome
|
2q34
|
|
gptkbp:location
|
mitochondria
|
|
gptkbp:molecularWeight
|
approximately 160 kDa
|
|
gptkbp:mutationAssociatedWith
|
can cause urea cycle disorders
|
|
gptkbp:OMIM
|
237300
|
|
gptkbp:organism
|
humans
mammals
|
|
gptkbp:pathway
|
gptkb:urea_cycle
|
|
gptkbp:product
|
carbamoyl phosphate
|
|
gptkbp:regulates
|
activated by N-acetylglutamate
|
|
gptkbp:structure
|
homotetramer
|
|
gptkbp:substrate
|
ammonia
bicarbonate
|
|
gptkbp:tissue_specificity
|
liver
|
|
gptkbp:UniProtID
|
gptkb:P31327
|
|
gptkbp:bfsParent
|
gptkb:CP_System
|
|
gptkbp:bfsLayer
|
5
|