Recombinant Human Carbamoyl-phosphate synthase [ammonia], mitochondrial (CPS1), partial

1. In silico analysis potentially links CPS1 SNPs with major depression disorder. PMID: 29441491
2. Allele and genotype frequencies of the p.Thr1406Asn polymorphism did not differ between the infants with and without NEC, but the minor A-allele was less frequent in the group of 64 infants with the combined outcome NEC or death before 34 weeks of corrected gestational age than in the infants without this outcome. A significant negative association of the A-allele with the combined outcome NEC or death was found. PMID: 27833157
3. HNF3beta plays a vital role in regulation of CPS1 gene and could promote the metabolism of ammonia by regulating CPS1 expression. PMID: 28272778
4. CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells PMID: 28538732
5. CPS1 knockdown reduced cell growth, decreased levels of metabolites associated with nucleic acid biosynthesis. PMID: 28376202
6. These results may offer an increasing understand that CPS1 might have a function in differentiation. PMID: 27425868
7. Molecular structure of CPS1 has been deciphered. PMID: 26592762
8. CPS1 and CPS1IT1 may be potential prognostic indicators for patients with intrahepatic cholangiocarcinoma. PMID: 26499888
9. CPS1 is involved in the urea cycle in weight maintenance. PMID: 26938218
10. These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis. PMID: 26822151
11. Mechanism for Switching On/Off the Urea Cycle PMID: 26059772
12. More HCC cells could be identified by the antibody cocktail for CPS1 and P-CK compared with a single antibody. PMID: 24763545
13. characterized the only currently known recurrent CPS1 mutation, p.Val1013del found in eleven unrelated patients of Turkish descent; mutation p.V1013del inactivates CPS1 but does not render the enzyme grossly unstable or insoluble PMID: 25410056
14. Overexpression of CPS1 is associated with rectal cancers. PMID: 25099619
15. study examined patient characteristics, including genetic polymorphism, to identify risk factors associated with development of hyperammonemia during valproic acid-based therapy; found CPS1 4217C>A polymorphism may not be associated with development of hyperammonemia in Japanese population PMID: 24888247
16. Findings support the disease-causing role of the mutations reported to affect the CPS1 deficiency, revealing a key role of the small CPS1 domain of unknown function (UFSD) for proper enzyme folding. PMID: 24813853
17. CPS1 becomes readily detectable upon hepatocyte apoptotic and necrotic death. Its abundance and short serum half-life suggest that it may be a useful prognostic biomarker in acute liver injury. PMID: 24924744
18. Data show that carbamoyl phosphate synthetase 1, an enzyme involved in the urea cycle, 8-oxoguanine DNA glycosylase 1 and DNA polymerase beta, enzymes involved in DNA repair, were expressed at higher levels in Batten disease cells than in normal cells. PMID: 22692827
19. the human CPS unknown function domains are spatially located in a region that corresponds to the a/b subunits interface in Escherichia coli CPS. [Review] PMID: 22521883
20. Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature. PMID: 22173106
21. Case Report: Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation. PMID: 21837743
22. This is the first large-scale report of CPS1 mutations spanning a wide variety of molecular defects highlighting important regions in this protein. PMID: 21120950
23. DNA methylation is a key mechanism of silencing CPS1 expression in human hepatocellular carcinoma cells. PMID: 21281797
24. structure-function analysis and pathogenicity-testing of mutations in CPS1 PMID: 20800523
25. Data reported five of the CPS1 mutations (p.T471N, p.Q678P, p.P774L, p.R1453Q, and p.R1453W) in severe CPS1D patients. PMID: 20578160
26. The present study in preterm infants did not confirm the earlier reported association between CPS1 genotype and L-arginine levels in term infants. PMID: 20520828
27. These data confirm a recent finding that CPS1 is a locus influencing homocysteine levels in women and suggest that genetic effects on Hcy may differ across developmental stages. PMID: 20154341
28. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) PMID: 20383146
29. Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator) PMID: 20154341
30. CPS1, MUT, NOX4, and DPEP1 is associated with plasma homocysteine in healthy Women. PMID: 20031578
31. Allelic imbalance may explain clinical variability in CPS1 deficiency in some families. PMID: 19793055
32. The entire DNA sequence of the human CPS1 gene is presented, including all exon-intron boundaries. PMID: 12655559
33. CPSI T1405N genotype appears to be an important new factor in predicting susceptibility to pulmonry hypertension following surgical repair of congenital cardiac defects in children. PMID: 17188582
34. CPPS1 T1404N polymorphism may be associated with the risk of necrotizing enterocolitis in preterm infants. PMID: 17597649
35. Tight hydrogen binding mode is supported by the observation of reduced NAG affinity upon mutation of N-acetyl-L-glutamate-interacting residues of CPSI PMID: 19754428
36. The differential expression of Hep Par 1(carbamoyl phosphate synthetase I) in dysplastic vs malignant tumors of the small intestine may be diagnostically useful in difficult cases. PMID: 19926579

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HGNC: 2323

OMIM: 237300

KEGG: hsa:1373

STRING: 9606.ENSP00000402608

UniGene: Hs.149252