Entity Details

Primary name CPSM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP31327
EntryNameCPSM_HUMAN
FullNameCarbamoyl-phosphate synthase [ammonia], mitochondrial
TaxID9606
Evidenceevidence at protein level
Length1500
SequenceStatuscomplete
DateCreated1993-07-01
DateModified2021-06-02

Ontological Relatives

GenesCPS1

GO terms

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GOName
GO:0000050 urea cycle
GO:0004087 carbamoyl-phosphate synthase (ammonia) activity
GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity
GO:0004175 endopeptidase activity
GO:0005509 calcium ion binding
GO:0005524 ATP binding
GO:0005543 phospholipid binding
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process
GO:0006541 glutamine metabolic process
GO:0006807 nitrogen compound metabolic process
GO:0007494 midgut development
GO:0009636 response to toxic substance
GO:0010043 response to zinc ion
GO:0014075 response to amine
GO:0016595 glutamate binding
GO:0019240 citrulline biosynthetic process
GO:0019433 triglyceride catabolic process
GO:0032094 response to food
GO:0032496 response to lipopolysaccharide
GO:0032991 protein-containing complex
GO:0042311 vasodilation
GO:0042493 response to drug
GO:0042594 response to starvation
GO:0042645 mitochondrial nucleoid
GO:0043200 response to amino acid
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0044877 protein-containing complex binding
GO:0046209 nitric oxide metabolic process
GO:0050667 homocysteine metabolic process
GO:0055081 anion homeostasis
GO:0060416 response to growth hormone
GO:0070365 hepatocyte differentiation
GO:0070409 carbamoyl phosphate biosynthetic process
GO:0071242 cellular response to ammonium ion
GO:0071320 cellular response to cAMP
GO:0071377 cellular response to glucagon stimulus
GO:0071400 cellular response to oleic acid
GO:0071548 response to dexamethasone
GO:0072341 modified amino acid binding

Subcellular Location

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Subcellular Location
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domainDomainDomain
IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domainDomainDomain
IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domainDomainDomain
IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domainDomainDomain
IPR006274 Carbamoyl-phosphate synthase, small subunitFamilyFamily
IPR006275 Carbamoyl-phosphate synthase, large subunitFamilyFamily
IPR011607 Methylglyoxal synthase-like domainDomainDomain
IPR011761 ATP-grasp foldDomainDomain
IPR013815 ATP-grasp fold, subdomain 1FamilyHomologous superfamily
IPR016185 Pre-ATP-grasp domain superfamilyFamilyHomologous superfamily
IPR017926 Glutamine amidotransferaseDomainDomain
IPR029062 Class I glutamine amidotransferase-likeFamilyHomologous superfamily
IPR035686 Carbamoyl-phosphate synthase small subunit, GATase1 domainDomainDomain
IPR036480 Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamilyFamilyHomologous superfamily
IPR036897 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamilyFamilyHomologous superfamily
IPR036914 Methylglyoxal synthase-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
237300 OMIMCarbamoyl phosphate synthetase 1 deficiency (CPS1D)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. The disease is caused by variants affecting the gene represented in this entry.
615371 OMIMPulmonary hypertension, neonatal (PHN)A disease characterized by elevated pulmonary artery pressure. Pulmonary hypertension in the neonate is associated with multiple underlying problems such as respiratory distress syndrome, meconium aspiration syndrome, congenital diaphragmatic hernia, bronchopulmonary dysplasia, sepsis, or congenital heart disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. CPS1 variants 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 (PubMed:11407344).

Drugs

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DrugNameSourceType
DB06775 Carglumic acidDrugbanksmall molecule
DB11118 AmmoniaSwissprotsmall molecule