CPS1

Summary

Gene Symbol: CPS1
Description: carbamoyl-phosphate synthase 1
Alias: CPSASE1, PHN, carbamoyl-phosphate synthase [ammonia], mitochondrial, carbamoyl-phosphate synthase (ammonia), carbamoyl-phosphate synthase 1, mitochondrial, carbamoylphosphate synthetase I
Species: human
Products:     CPS1

Top Publications

  1. Pare G, Chasman D, Parker A, Zee R, Malarstig A, Seedorf U, et al. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet. 2009;2:142-50 pubmed publisher
    ..22; rs1801133; P=8.1 x 10(-35)) and CBS (21q22.3; rs6586282; P=3.2 x 10(-10)), we found novel associations with CPS1 (2q34; rs7422339; P=1.9 x 10(-11)), MUT (6p12.3; rs4267943; P=2.0 x 10(-9)), NOX4 (11q14.3; rs11018628; P=9...
  2. Summar M, Gainer J, Pretorius M, Malave H, Harris S, Hall L, et al. Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function. Hypertension. 2004;43:186-91 pubmed
    ..943). These data indicate that a polymorphism in the gene encoding carbamoyl-phosphate synthetase 1 influences nitric oxide production as well as vascular smooth muscle reactivity. ..
  3. Lange L, Croteau Chonka D, Marvelle A, Qin L, Gaulton K, Kuzawa C, et al. Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. Hum Mol Genet. 2010;19:2050-8 pubmed publisher
    ..7 x 10(-13)) encodes Thr1405Asn in the gene CPS1 and explained 3.0% of variation in the Hcy level...
  4. Liu H, Dong H, ROBERTSON K, Liu C. DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma. Am J Pathol. 2011;178:652-61 pubmed publisher
    Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific, intramitochondrial, rate-limiting enzyme in the urea cycle...
  5. Pearson D, Dawling S, Walsh W, Haines J, Christman B, Bazyk A, et al. Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function. N Engl J Med. 2001;344:1832-8 pubmed
  6. Moonen R, Paulussen A, Souren N, Kessels A, Rubio Gozalbo M, Villamor E. Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis. Pediatr Res. 2007;62:188-90 pubmed
    A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1) has been correlated with low plasma concentrations of L-arginine in neonates...
  7. Xie W, Wood A, Lyssenko V, Weedon M, Knowles J, Alkayyali S, et al. Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. Diabetes. 2013;62:2141-50 pubmed publisher
    ..We identified four associations with three metabolites-glycine (rs715 at CPS1), serine (rs478093 at PHGDH), and betaine (rs499368 at SLC6A12; rs17823642 at BHMT)-and one association signal with ..
  8. Zhu X, Li X, Zhang T, Zhao L. Risk Factors for Valproic Acid-induced Hyperammonaemia in Chinese Paediatric Patients with Epilepsy. Basic Clin Pharmacol Toxicol. 2018;123:628-634 pubmed publisher
    ..Six single nucleotide polymorphisms in the candidate genes, CYP2C9, CYP2A6, CYP2B6 and CPS1, were analysed by a matrix-assisted laser desorption ionization-time of flight mass spectrometry method or nested ..
  9. Li L, Mao Y, Zhao L, Li L, Wu J, Zhao M, et al. p53 regulation of ammonia metabolism through urea cycle controls polyamine biosynthesis. Nature. 2019;: pubmed publisher
    ..Through transcriptional downregulation of CPS1, OTC and ARG1, p53 suppresses ureagenesis and elimination of ammonia in vitro and in vivo, leading to the ..

More Information

Publications134 found, 100 shown here

  1. Xing B, Yang D, Yu H, Zhang B, Yan K, Zhang X, et al. Overexpression of SmbHLH10 enhances tanshinones biosynthesis in Salvia miltiorrhiza hairy roots. Plant Sci. 2018;276:229-238 pubmed publisher
    ..74-fold higher of the WT, respectively. The downstream pathway genes CPS1, CPS5 and CYP76AH1 were highest in line OE-SmbHLH10-6, reached 4.93, 16.29 and 3...
  2. Zhang H, Lang Y, Zhang K, Li X, Liu Y, Gai Z. [Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:848-851 pubmed publisher
    ..The neonate was found to harbor compound heterozygous mutations of the CPS1 gene [c.1631C>T(p.T544M) and c.1981G>T(p...
  3. Lessa F, Milucky J, Rouphael N, Bennett N, Talbot H, Harrison L, et al. Streptococcus mitis Expressing Pneumococcal Serotype 1 Capsule. Sci Rep. 2018;8:17959 pubmed publisher
    ..Whole genome sequencing revealed three distinct S. mitis clones, each representing a cps1 operon highly similar to the pneumococcal cps1 reference operon...
  4. Rokicki D, Pajdowska M, Trubicka J, Thong M, Ciara E, Piekutowska Abramczuk D, et al. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin Chim Acta. 2017;471:95-100 pubmed publisher
    ..Here, we report ten neonates from eight families (finally) diagnosed with CPS1 deficiency at three tertiary metabolic centres...
  5. Shi J, Li X, Zhang F, Kong L, Zhang X, Cheng Y, et al. The Plasma LncRNA Acting as Fingerprint in Hilar Cholangiocarcinoma. Cell Physiol Biochem. 2018;49:1694-1702 pubmed publisher
    ..Data was presented with receiver operating characteristic curve (ROC). Circulating PCAT1, MALAT1, and CPS1-IT1 were significantly increased in plasma samples of HC patients in both the training set and validation set...
  6. Xiaoguang Z, Meirong L, Jingjing Z, Ruishen Z, Qing Z, Xiaofeng T. Long Noncoding RNA CPS1-IT1 Suppresses Cell Proliferation and Metastasis in Human Lung Cancer. Oncol Res. 2017;25:373-380 pubmed publisher
    The long noncoding CPS1 intronic transcript 1 (lncRNA CPS1-IT1) is a recently identified tumor suppressor in the lncRNA family of proteins. Whether this lncRNA plays any functional role in solid tumors remains largely unknown...
  7. Cubillos F, Brice C, Molinet J, Tisné S, Abarca V, Tapia S, et al. Identification of Nitrogen Consumption Genetic Variants in Yeast Through QTL Mapping and Bulk Segregant RNA-Seq Analyses. G3 (Bethesda). 2017;7:1693-1705 pubmed publisher
    ..Based on these approaches, we were able to validate ARO1, PDC1, CPS1, ASI2, LYP1, and ALP1 allelic variants underlying nitrogen consumption differences between ..
  8. Nwosu Z, Battello N, Rothley M, Piorońska W, Sitek B, Ebert M, et al. Liver cancer cell lines distinctly mimic the metabolic gene expression pattern of the corresponding human tumours. J Exp Clin Cancer Res. 2018;37:211 pubmed publisher
    ..g. ACAA1/2, ACADSB, HADH), urea cycle (e.g. CPS1, ARG1, ASL), molecule transport (e.g. SLC2A2, SLC7A1, SLC25A15/20), and amino acid metabolism (e.g...
  9. Williams M, Burlina A, Rubert L, Polo G, Ruijter G, van den Born M, et al. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. Sci Rep. 2018;8:15436 pubmed publisher
    ..NAG is essential for the activity of carbamylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of the urea cycle...
  10. Leung K, Chan K, Ma T, Yu J, Tong J, Tam Y, et al. Dysregulated expression of arginine metabolic enzymes in human intestinal tissues of necrotizing enterocolitis and response of CaCO2 cells to bacterial components. J Nutr Biochem. 2016;29:64-72 pubmed publisher
    ..Our results showed that expressions of arginine synthesizing enzymes ALDH18A1, ASL, ASS1, CPS1, GLS, OAT and PRODH were significantly decreased in NEC compared with Surg-CTL or SIP tissues...
  11. Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, et al. Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy. Mol Genet Metab. 2018;124:243-253 pubmed publisher
    Carbamoyl phosphate synthetase 1 (CPS1) is a urea cycle enzyme that forms carbamoyl phosphate from bicarbonate, ammonia and ATP...
  12. Haraguchi Y, Uchino T, Takiguchi M, Endo F, Mori M, Matsuda I. Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia. Gene. 1991;107:335-40 pubmed
    ..Heterogeneity of hybridized fragments that may or may not be the cause of the deficiency was apparent on the DNA blots from tissues from one patient. ..
  13. Yang D, Hurley J. Structural role of the Vps4-Vta1 interface in ESCRT-III recycling. Structure. 2010;18:976-84 pubmed publisher
    ..Residues involved in structural interactions are conserved and are required for binding in vitro and for Cps1 sorting in vivo...
  14. Burke Z, Reed K, Yeh S, Meniel V, Sansom O, Clarke A, et al. Spatiotemporal regulation of liver development by the Wnt/β-catenin pathway. Sci Rep. 2018;8:2735 pubmed publisher
    ..In normal development, the ammonia metabolising enzymes carbamoylphosphate synthetase I (CPSI) and Glutamine synthetase (GS) begin to be expressed in separate hepatoblasts from E13...
  15. Kim Y, Kim S. Machine learning identifies a core gene set predictive of acquired resistance to EGFR tyrosine kinase inhibitor. J Cancer Res Clin Oncol. 2018;144:1435-1444 pubmed publisher
    ..machine learning method, we developed an extremely parsimonious model with generalized predictors (DDK3, CPS1, MOB3B, KRT6A), which has excellent prediction performance on blind cohorts for AR to EGFR-TKIs (gefitinib, ..
  16. Kottgen A, Pattaro C, Böger C, Fuchsberger C, Olden M, Glazer N, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010;42:376-84 pubmed publisher
    ..PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3)...
  17. Lee E, Oh J, Selvaraj S, Park S, Choi M, Spanel R, et al. Immunogenomics reveal molecular circuits of diclofenac induced liver injury in mice. Oncotarget. 2016;7:14983-5017 pubmed publisher
    ..The findings encourage translational research. ..
  18. Liao C, Lin Y, Kuo C. Effect of high-fat diet on hepatic proteomics of hamsters. J Agric Food Chem. 2015;63:1869-81 pubmed publisher
    ..enzymes involved in the urea cycle were suppressed by high-fat diet, including carbamoyl phosphate synthase 1 (CPS1), ornithine transcarbamoylase (OTC), argininosuccinate synthase (ASS), argininosuccinate lyase (ASL), and arginase ..
  19. Polletta L, Vernucci E, Carnevale I, Arcangeli T, Rotili D, Palmerio S, et al. SIRT5 regulation of ammonia-induced autophagy and mitophagy. Autophagy. 2015;11:253-70 pubmed publisher
    In liver the mitochondrial sirtuin, SIRT5, controls ammonia detoxification by regulating CPS1, the first enzyme of the urea cycle...
  20. Shi D, Allewell N, Tuchman M. The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms. Int J Mol Sci. 2015;16:13004-22 pubmed publisher
    ..while in mammals, its major role is to produce the essential co-factor of carbamoyl phosphate synthetase 1 (CPS1) in the urea cycle...
  21. Adamo R, Margarit I. Fighting Antibiotic-Resistant Klebsiella pneumoniae with "Sweet" Immune Targets. MBio. 2018;9: pubmed publisher
    ..strains belong to the sequence type 158 (ST258) lineage, with two main clades expressing capsular polysaccharides CPS1 and CPS2. In a recent article, S. D. Kobayashi and colleagues (mBio 9:e00297-18, 2018, https://doi.org/10.1128/mBio...
  22. Ren X, Hurley J. VHS domains of ESCRT-0 cooperate in high-avidity binding to polyubiquitinated cargo. EMBO J. 2010;29:1045-54 pubmed publisher
    ..Mutational analysis of all the five ubiquitin-binding sites in yeast ESCRT-0 shows that cooperation between them is required for the sorting of the Lys63-linked polyubiquitinated cargo Cps1 to the vacuole.
  23. Zhang L, Qiu J, Liang X, Huang B, Li Y, Du L, et al. [Role of CD44 in monocyte transmigration across Cryptococcus neoformans-infected blood-brain barrier in vitro]. Nan Fang Yi Ke Da Xue Xue Bao. 2015;35:468-73 pubmed
    ..The wild-type strain of Cn B4500FO2, TYCC645#32 strain with CPS1 gene deletion and PCIP strain with CPS1 complementation were chosen to infect the monolayer HBMECs...
  24. Wang T, Wu C, Yeh C, Su S, Hsia S, Liang K, et al. Melatonin suppresses hepatocellular carcinoma progression via lncRNA-CPS1-IT-mediated HIF-1? inactivation. Oncotarget. 2017;8:82280-82293 pubmed publisher
    ..This increase in FOXA2 expression resulted in upregulation of lncRNA-CPS1 intronic transcript 1 (CPS1-IT1), which reduced HIF-1? activity and consequently resulted in the suppression of ..
  25. Liu H, Zhang H, Cui R, Guo X, Wang D, Dai J. Activation of peroxisome proliferator-activated receptor α ameliorates perfluorododecanoic acid-induced production of reactive oxygen species in rat liver. Arch Toxicol. 2016;90:1383-97 pubmed publisher
    ..Among them, six significantly changed proteins (CTE1, MTE1, HADHA, ECH1, ALDH2 and CPS1) were found to be regulated by peroxisome proliferator-activated receptor alpha (PPARα)...
  26. Wang T, Yu C, Lin Y, Chen T, Yeh C, Liang K, et al. Long noncoding RNA CPS1-IT1 suppresses the metastasis of hepatocellular carcinoma by regulating HIF-1? activity and inhibiting epithelial-mesenchymal transition. Oncotarget. 2016;7:43588-43603 pubmed publisher
    ..After validation in 119 human HCC tissues, we identified a novel tumor suppressor lncRNA, CPS1 intronic transcript 1 (CPS1-IT1)...
  27. Ng B, Wolfe L, Ichikawa M, Markello T, He M, Tifft C, et al. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. Hum Mol Genet. 2015;24:3050-7 pubmed publisher
    ..In addition, CTP, UTP and nearly all UDP-activated sugars that serve as donors for glycosylation were decreased. Uridine supplementation rescued these abnormalities, suggesting a potential therapy for this new glycosylation disorder. ..
  28. Tanimizu N, Ichinohe N, Ishii M, Kino J, Mizuguchi T, Hirata K, et al. Liver Progenitors Isolated from Adult Healthy Mouse Liver Efficiently Differentiate to Functional Hepatocytes In Vitro and Repopulate Liver Tissue. Stem Cells. 2016;34:2889-2901 pubmed publisher
    ..liver plates and expressed hepatocyte nuclear factor 4α, CCAAT/enhancer binding protein α, and carbamoylphosphate synthetase I. Moreover, after short-term treatment with oncostatin M, ICAM-1+ clones could efficiently ..
  29. Asai A, Malladi S, Misch J, Pan X, Malladi P, Diehl A, et al. Elaboration of tubules with active hedgehog drives parenchymal fibrogenesis in gestational alloimmune liver disease. Hum Pathol. 2015;46:84-93 pubmed publisher
    ..0001). Functional hepatocyte mass was markedly reduced in GALD, 16.3 ± 6.2 versus 61.9 ± 11.0 area% of CPS1+ cells in NNL (P < .0001)...
  30. Sharma D, Lakhani H, Klug R, Snoad B, El Hamdani R, Shapiro J, et al. Investigating Molecular Connections of Non-alcoholic Fatty Liver Disease with Associated Pathological Conditions in West Virginia for Biomarker Analysis. J Clin Cell Immunol. 2017;8: pubmed publisher
    ..for inclusion in a panel of biomarkers for the early detection of NAFLD: adiponectin, AST, ALT, apo-B, CK18, CPS1, CRP, FABP-1, ferritin, GGT, GRP78, HDL-C, IGF-1, IL-1?, 6, 8, 10, IRS-2PAI-1, leptin, lumican, MDA SREBP-1c and ..
  31. Roessler C, Nowak T, Pannek M, Gertz M, Nguyen G, Scharfe M, et al. Chemical probing of the human sirtuin 5 active site reveals its substrate acyl specificity and peptide-based inhibitors. Angew Chem Int Ed Engl. 2014;53:10728-32 pubmed publisher
    ..Our results reveal the Sirt5 acyl selectivity and its molecular basis and enable the design of inhibitors for Sirt5. ..
  32. Mori M, Mytinger J, Martin L, Bartholomew D, Hickey S. m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening. JIMD Rep. 2014;17:47-51 pubmed publisher
    ..causes mitochondrial ATP synthase deficiency and it is hypothesized to undermine the synthesis of citrulline by CPS1. In addition to proximal urea cycle disorders, the evaluation of an infant with persistent hypocitrullinemia should ..
  33. Laemmle A, Hahn D, Hu L, Rüfenacht V, Gautschi M, Leibundgut K, et al. Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Mol Genet Metab. 2015;114:438-44 pubmed publisher
    ..homogenates, enzymatic activity and protein expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) were virtually absent...
  34. De Chiara F, Heebøll S, Marrone G, Montoliu C, Hamilton Dutoit S, Ferrandez A, et al. Urea cycle dysregulation in non-alcoholic fatty liver disease. J Hepatol. 2018;69:905-915 pubmed publisher
    ..We measured the gene and protein expression of ornithine transcarbamylase (OTC) and carbamoylphosphate synthetase (CPS1), as well as OTC activity, and ammonia concentrations...
  35. Kido J, Matsumoto S, Mitsubuchi H, Endo F, Nakamura K. Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment. Metab Brain Dis. 2018;33:1517-1523 pubmed publisher
    ..Moreover, this study suggested that if the onset of UCD began during the neonatal period, then even UCD patients with MAC <300 μM at onset should undergo LT to protect the brain. ..
  36. Lomas Soria C, Pérez Ramírez I, Caballero Pérez J, Guevara Gonzalez R, Guevara Olvera L, Loarca Piña G, et al. Cooked common beans (Phaseolus vulgaris L.) modulate renal genes in streptozotocin-induced diabetic rats. J Nutr Biochem. 2015;26:761-8 pubmed publisher
    ..of kidneys evaluated using expressed sequence tag, consumption of cooked beans improved the expression of Glu1, Cps1, Ipmk, Cacna1c, Camk1, Pdhb, Ptbp3 and Pim1, which are related to the elimination of ammonium groups, the ..
  37. de Cima S, Polo L, Díez Fernández C, Martínez A, Cervera J, Fita I, et al. Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis. Sci Rep. 2015;5:16950 pubmed publisher
    Human carbamoyl phosphate synthetase (CPS1), a 1500-residue multidomain enzyme, catalyzes the first step of ammonia detoxification to urea requiring N-acetyl-L-glutamate (NAG) as essential activator to prevent ammonia/amino acids ..
  38. Plubell D, Wilmarth P, Zhao Y, Fenton A, Minnier J, Reddy A, et al. Extended Multiplexing of Tandem Mass Tags (TMT) Labeling Reveals Age and High Fat Diet Specific Proteome Changes in Mouse Epididymal Adipose Tissue. Mol Cell Proteomics. 2017;16:873-890 pubmed publisher
    ..g. OTC, ARG1, CPS1), and amino acid biosynthesis (e.g. GMT, AKR1C6)...
  39. Heibel S, Lopez G, Panglao M, Sodha S, Mariño Ramírez L, Tuchman M, et al. Transcriptional regulation of N-acetylglutamate synthase. PLoS ONE. 2012;7:e29527 pubmed publisher
    ..for the catalytic function of the first and rate-limiting enzyme of ureagenesis, carbamyl phosphate synthetase 1 (CPS1)...
  40. Kobayashi M, Fujinaga Y, Ota H. Reappraisal of the Immunophenotype of Pancreatic Intraductal Papillary Mucinous Neoplasms (IPMNs)-Gastric Pyloric and Small Intestinal Immunophenotype Expression in Gastric and Intestinal Type IPMNs-. Acta Histochem Cytochem. 2014;47:45-57 pubmed publisher
    ..gastric pyloric and duodenal epithelial cells (PDX1), intestinal cells (MUC2 and CDX2), small intestinal cells (CPS1) and large intestinal cells (SATB2) were evaluated in 33 surgically treated IPMNs...
  41. Ratovitski E. Delta Np63 alpha – Responsive microRNA Modulate the Expression of Metabolic Enzymes. Curr Pharm Biotechnol. 2015;16:832-50 pubmed
    ..Finally, the modulation of specific targets (e.g., SREBF2, AKT2, G6PD, CPS1, FADS1, and ETNK1) using a combination of microRNA mimics and siRNA silencing has shown that a suppression of these ..
  42. Yang C, Fu R, Zhuang Z, Wang S. Studies on the biological functions of CPS1 in AFB1 induced hepatocarcinogenesis. Gene. 2016;591:255-261 pubmed publisher
    Carbamyl phosphate synthetase 1 (CPS1) was down-regulated in hepatocellular carcinoma (HCC), as treated by aflatoxin B1 (AFB1), a potent hepatocarcinogenesis mycotoxin...
  43. van Meurs J, Pare G, Schwartz S, Hazra A, Tanaka T, Vermeulen S, et al. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. Am J Clin Nutr. 2013;98:668-76 pubmed publisher
    ..6 × 10⁻⁹), and variants previously reported at or near the MTHFR, MTR, CPS1, MUT, NOX4, DPEP1, and CBS genes...
  44. Inoue K, Suzuki E, Takahashi T, Yamamoto Y, Yazawa R, Takahashi Y, et al. 4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy. Epilepsy Res. 2014;108:1046-51 pubmed publisher
    ..Polymorphisms in the genes encoding carbamoyl-phosphate synthase 1 (CPS1) and N-acetylglutamate synthase (NAGS) were recently reported to be risk factors for the development of ..
  45. Matone A, Scott Boyer M, Carayol J, Fazelzadeh P, Lefebvre G, Valsesia A, et al. Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance. PLoS ONE. 2016;11:e0150495 pubmed publisher
    ..A genome wide association study identified SNPs associated with plasma glycine levels within the CPS1 (Carbamoyl-Phosphate Synthase 1) gene (rs10206976, p-value = 4.709e-11 and rs12613336, p-value = 1.368e-08)...
  46. Shi D, Zhao G, Ah Mew N, Tuchman M. Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes. Mol Genet Metab. 2017;120:198-206 pubmed publisher
    ..NCG) in the activation of two different disease-causing mutants of carbamyl phosphate synthetase 1 (CPS1)...
  47. Chen Z, Tang N, Wang X, Chen Y. The activity of the carbamoyl phosphate synthase 1 promoter in human liver-derived cells is dependent on hepatocyte nuclear factor 3-beta. J Cell Mol Med. 2017;21:2036-2045 pubmed publisher
    Carbamoyl phosphate synthase 1 (CPS1) is the rate-limiting enzyme in the first step of the urea cycle and an indispensable enzyme in the metabolism of human liver...
  48. Unsinn C, Das A, Valayannopoulos V, Thimm E, Beblo S, Burlina A, et al. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet J Rare Dis. 2016;11:116 pubmed publisher
    ..case series study focussing on the most severe UCDs, namely defects of carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), and argininosuccinate synthetase (ASS)...
  49. Simic Z, Weiwad M, Schierhorn A, Steegborn C, Schutkowski M. The É›-Amino Group of Protein Lysine Residues Is Highly Susceptible to Nonenzymatic Acylation by Several Physiological Acyl-CoA Thioesters. Chembiochem. 2015;16:2337-47 pubmed publisher
    ..Thus, the acylation landscape on lysine residues might largely depend on the enzymatic activity of specific sirtuins, and the availability and reactivity of acyl-CoA compounds. ..
  50. Ali E, Khalid M, Yunus Z, Yakob Y, Chin C, Abd Latif K, et al. Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients. Eur J Pediatr. 2016;175:339-46 pubmed publisher
    Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare autosomal recessive disorder of ureagenesis presenting as life-threatening hyperammonemia...
  51. Zeng H, Miao S, Zheng B, Lin S, Jian Y, Chen S, et al. Molecular Structural Characteristics of Polysaccharide Fractions from Canarium album (Lour.) Raeusch and Their Antioxidant Activities. J Food Sci. 2015;80:H2585-96 pubmed publisher
    ..Raeusch (CPS). Three polysaccharide fractions, CPS1, CPS2, and CPS3, were isolated from CPS by column chromatography...
  52. Pronicka E, Piekutowska Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucinska Wieckowska A, et al. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med. 2016;14:174 pubmed publisher
    ..In 19 cases, variants in 18 non-MD related genes (ADAR, CACNA1A, CDKL5, CLN3, CPS1, DMD, DYSF, GBE1, GFAP, HSD17B4, MECP2, MYBPC3, PEX5, PGAP2, PIGN, PRF1, SBDS, SCN2A) were found...
  53. Kama R, Gabriely G, Kanneganti V, Gerst J. Cdc48 and ubiquilins confer selective anterograde protein sorting and entry into the multivesicular body in yeast. Mol Biol Cell. 2018;29:948-963 pubmed publisher
    ..We demonstrate that Cdc48 and the ubiquilin-like proteins in yeast also play a role in the anterograde trafficking of proteins, in this case the vacuolar protease, Cps1.
  54. Prasher B, Varma B, Kumar A, Khuntia B, Pandey R, Narang A, et al. Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations. J Ethnopharmacol. 2017;197:274-293 pubmed publisher
    ..CYP2C19, CYP2B6, ESR1, F2, PGR, HLA-B, HLA-DQA1, HLA-DRB1, LDLR, CFTR, CPS1. These variations are polymorphic in diverse Indian and world populations included in 1000 genomes project...
  55. Banh B, McDERMOTT H, Woodman S, Gadila S, Saimani U, Short J, et al. Yeast dynamin interaction with ESCRT proteins at the endosome. Cell Biol Int. 2017;41:484-494 pubmed publisher
    ..Additionally, loss of Vps1 or depletion of the GTPase activity of Vps1 results in a moderate defect in Cps1 targeting to the vacuole...
  56. Raffield L, Ellis J, Olson N, Duan Q, Li J, Durda P, et al. Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. J Hum Genet. 2018;63:327-337 pubmed publisher
    ..050) replicated in AAs. Associations at the CPS1 locus, previously reported in females only, also was replicated specifically in females in this analysis, ..
  57. Martinez A, Pérez Arellano I, Pekkala S, Barcelona B, Cervera J. Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency. Mol Genet Metab. 2010;101:311-23 pubmed publisher
    Carbamoyl phosphate synthetase 1 (CPS1) plays a paramount role in liver ureagenesis since it catalyzes the first and rate-limiting step of the urea cycle, the major pathway for nitrogen disposal in humans...
  58. Williams S, Yang Q, Chen F, Liu X, Keene K, Jacques P, et al. Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke. PLoS Genet. 2014;10:e1004214 pubmed publisher
    ..Five genes in the FOCM pathway (GNMT [p = 1.60 × 10(-63)], CBS [p = 3.15 × 10(-26)], CPS1 [p = 9.10 × 10(-13)], ALDH1L1 [p = 7.3 × 10(-13)] and PSPH [p = 1...
  59. Joshi A, Mustafa M, Lichti C, Elferink C. Homocitrullination Is a Novel Histone H1 Epigenetic Mark Dependent on Aryl Hydrocarbon Receptor Recruitment of Carbamoyl Phosphate Synthase 1. J Biol Chem. 2015;290:27767-78 pubmed publisher
    ..ligand 2,3,7,8-tetrachlorodibenzo-p-dioxin resulted in concomitant recruitment of carbamoyl phosphate synthase 1 (CPS1) to the NC-XRE...
  60. Tseng H, Huang T, Wu A, Chen H, Liu C, Jong A. How Cryptococcus interacts with the blood-brain barrier. Future Microbiol. 2015;10:1669-82 pubmed publisher
    ..Several Cryptococcal genes related to the traversal of BBB have been identified, including CPS1, ITR1a, ITR3c, PLB1, MPR1, FNX1 and RUB1...
  61. Griffin J, Liu Y, Bradshaw P, Wang K. In Silico Preliminary Association of Ammonia Metabolism Genes GLS, CPS1, and GLUL with Risk of Alzheimer's Disease, Major Depressive Disorder, and Type 2 Diabetes. J Mol Neurosci. 2018;64:385-396 pubmed publisher
    ..to determine if 45 single nucleotide polymorphisms (SNPs) in glutaminase (GLS), carbamoyl phosphate synthetase 1 (CPS1), or glutamate-ammonia ligase (GLUL) genes were associated with AD, MDD, or T2D using PLINK software...
  62. Fernández Ramírez M, Nierop Groot M, Smid E, Hols P, Kleerebezem M, Abee T. Role of cell surface composition and lysis in static biofilm formation by Lactobacillus plantarum WCFS1. Int J Food Microbiol. 2018;271:15-23 pubmed publisher
    ..to the cell wall peptidoglycan (?srtA) and mutants deficient in the production of capsular polysaccharides (CPS1-4, ?cps1-4)...
  63. Hu L, Díez Fernández C, Rüfenacht V, Hismi B, Ãœnal Ã, Soyucen E, et al. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. Mol Genet Metab. 2014;113:267-73 pubmed publisher
    Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment...
  64. Feliziani C, Valdez Taubas J, Moyano S, Quassollo G, Poprawski J, Wendland B, et al. Vestiges of Ent3p/Ent5p function in the giardial epsin homolog. Biochim Biophys Acta. 2016;1863:749-59 pubmed publisher
    ..the expression of GlENTHp neither complemented growth in the ent1Δent2Δ mutant nor restored the GFP-Cps1 vacuolar trafficking defect in ent3Δent5Δ, it interfered with the normal function of Ent3/5 in the wild-..
  65. van de Logt A, Kluijtmans L, Huigen M, Janssen M. Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. JIMD Rep. 2017;31:95-99 pubmed publisher
    ..DNA investigations were negative for mutations or deletions in the OTC and CPS1 gene, but revealed a homozygous c...
  66. Pekkala S, Martinez A, Barcelona B, Gallego J, Bendala E, Yefimenko I, et al. Structural insight on the control of urea synthesis: identification of the binding site for N-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase. Biochem J. 2009;424:211-20 pubmed publisher
  67. Díez Fernández C, Hu L, Cervera J, Haberle J, Rubio V. Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function. Mol Genet Metab. 2014;112:123-32 pubmed publisher
    ..phosphate synthetase 1 deficiency (CPS1D) is an inborn error of the urea cycle that is due to mutations in the CPS1 gene...
  68. Li L, Zhang P, Bao Z, Wang T, Liu S, Huang F. PGC-1? Promotes Ureagenesis in Mouse Periportal Hepatocytes through SIRT3 and SIRT5 in Response to Glucagon. Sci Rep. 2016;6:24156 pubmed publisher
    ..and sirtuin 5 (SIRT5) expression and ureagenesis enzymatic activity such as carbamoyl phosphate synthetase 1 (CPS1) and ornithine transcarbamoylase (OTC)...
  69. Reigstad H, Woldseth B, Haberle J. Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD Rep. 2017;37:45-47 pubmed publisher
    ..Even a very high ammonia may allow for a normal neurological development in infancy (and possibly beyond). ..
  70. Huo R, Zhu H, Lu L, Ying L, Xu M, Xu Z, et al. Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis. J Biochem Mol Biol. 2005;38:28-33 pubmed
    A gene coding a novel isoform of carbamyl phosphate synthetase I (CPS1) was cloned from a human testicular library...
  71. Finckh U, Kohlschutter A, Schafer H, Sperhake K, Colombo J, Gal A. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Hum Mutat. 1998;12:206-11 pubmed
    Carbamoyl phosphate synthetase I (CPS1) deficiency is an autosomal recessive metabolic disorder affecting the first enzymatic step of urea cycle...
  72. Melén E, Granell R, Kogevinas M, Strachan D, Gonzalez J, Wjst M, et al. Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy. 2013;43:463-74 pubmed publisher
    ..However, the association was overall not replicated in the independent data sets and the heterogeneous effect of DENND1B points to complex associations with the studied diseases that deserve further study. ..
  73. Xie C, Li Y, Li J, Zhang L, Zhou G, Gao F. Dietary starch types affect liver nutrient metabolism of finishing pigs. Br J Nutr. 2017;118:353-359 pubmed publisher
  74. Danik J, Pare G, Chasman D, Zee R, Kwiatkowski D, Parker A, et al. Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Circ Cardiovasc Genet. 2009;2:134-41 pubmed publisher
  75. Hoshide R, Matsuura T, Haraguchi Y, Endo F, Yoshinaga M, Matsuda I. Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing. J Clin Invest. 1993;91:1884-7 pubmed
    ..This report seems to be the first complete definition of CPS I deficiency, at the molecular level. ..
  76. Lee Y, Yoon K, Joo J, Lee D, Bae K, Han J, et al. Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study. Carcinogenesis. 2013;34:307-13 pubmed publisher
    ..These results suggested the variants at multiple genetic loci might contribute to the risk of death in advanced NSCLC patients receiving chemotherapy. ..
  77. Weerasinghe S, Jang Y, Fontana R, Omary M. Carbamoyl phosphate synthetase-1 is a rapid turnover biomarker in mouse and human acute liver injury. Am J Physiol Gastrointest Liver Physiol. 2014;307:G355-64 pubmed publisher
    ..analysis of hepatocyte culture medium identified the mitochondrial matrix protein carbamoyl phosphate synthetase-1 (CPS1) among the most readily detected proteins that are released by apoptotic hepatocytes...
  78. Liu T, Li D, Gu C, Ye S. Carbamyl phosphate synthetase I. A novel marker for gastric carcinoma. Chin Med J (Engl). 1989;102:630-8 pubmed
    Carbamyl phosphate synthetase I (CPS1) is an initial enzyme of urea synthetase system. It exists exclusively in liver cells and epithelial cells of the small intestine. By immunocytochemistry, 70...
  79. Yu B, Zheng Y, Alexander D, Morrison A, Coresh J, Boerwinkle E. Genetic determinants influencing human serum metabolome among African Americans. PLoS Genet. 2014;10:e1004212 pubmed publisher
    ..nineteen loci, and four of them contained non-synonymous substitutions in four enzyme-encoding genes (KLKB1, SIAE, CPS1, and NAT8); the other significant loci consist of eight other enzyme-encoding genes (ACE, GATM, ACY3, ACSM2B, THEM4,..
  80. Sancho Vaello E, Marco Marín C, Gougeard N, Fernández Murga L, Rüfenacht V, Mustedanagic M, et al. Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. Hum Mutat. 2016;37:679-94 pubmed publisher
    ..The disease-causing mechanisms appear to be, from higher to lower frequency, decreased solubility/stability, aberrant kinetics/catalysis, and altered arginine modulation. ..
  81. Wang Y, Chang L, Zhai J, Wu Q, Wang D, Wang Y. Generation of carbamoyl phosphate synthetase 1 reporter cell lines for the assessment of ammonia metabolism. J Cell Mol Med. 2017;21:3214-3223 pubmed publisher
    ..In hepatoma cell line HepG2, and immortalized hepatic cell line LO2, carbamoyl phosphate synthetase 1 (CPS1) gene, the first enzyme of ammonia-eliminating urea cycle, was labelled with fluorescence protein via CRISPR/Cas9 ..
  82. Cardona D, Zhang X, Liu C. Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma. Am J Clin Pathol. 2009;132:877-82 pubmed publisher
    Carbamoyl phosphate synthetase I (CPS1), normally found in hepatocytes and small-intestine (SI) enterocytes, is the antigen of Hep Par 1 antibody. Expression of CPS1 in invasive SI adenocarcinoma seems to be lost...
  83. Hartiala J, Tang W, Wang Z, Crow A, Stewart A, Roberts R, et al. Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease. Nat Commun. 2016;7:10558 pubmed publisher
    ..1. The lead variant on 2q24 (rs715) localizes to carbamoyl-phosphate synthase 1 (CPS1), which encodes a mitochondrial enzyme that catalyses the first committed reaction and rate-limiting step in the ..
  84. Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, et al. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Hum Hered. 2001;52:99-101 pubmed
  85. Shiojiri N, Wada J, Gebhardt R. Heterogeneous carbamoylphosphate synthetase I expression in testicular transplants of fetal mouse liver. Eur J Cell Biol. 1998;75:389-92 pubmed
    Expression of carbamoylphosphate synthetase I (CPSI; EC 6.3.4.16) was examined immunohistochemically in normal development of the mouse liver, and in testicular transplants of fetal liver fragments...
  86. Çeliktas M, Tanaka I, Tripathi S, Fahrmann J, Aguilar Bonavides C, Villalobos P, et al. Role of CPS1 in Cell Growth, Metabolism and Prognosis in LKB1-Inactivated Lung Adenocarcinoma. J Natl Cancer Inst. 2017;109:1-9 pubmed publisher
    ..Carbamoyl phosphate synthetase 1 (CPS1), the first rate-limiting mitochondrial enzyme in the urea cycle, was distinctively overexpressed in LKB1-..
  87. Yang D, Fang Y, Xia P, Zhang X, Liang Z. Diverse responses of tanshinone biosynthesis to biotic and abiotic elicitors in hairy root cultures of Salvia miltiorrhiza and Salvia castanea Diels f. tomentosa. Gene. 2018;643:61-67 pubmed publisher
    ..5-phosphate synthase (DXS2), geranylgeranyl diphosphatesynthase (GGPPS1), copalyl diphosphate synthase (CPS1), and two cytochromes P450 (CYP76AH1 and CYP76AH3) were also more responsive to YE in S. castanea than those in S...
  88. Lopes Marques M, Igrejas G, Amorim A, Azevedo L. Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains. Biochem Biophys Res Commun. 2012;421:409-12 pubmed publisher
  89. Funghini S, Donati M, Pasquini E, Zammarchi E, Morrone A. Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum Mutat. 2003;22:340-1 pubmed
    ..The large (5215 bp) CPS1-cDNA, expressed only in liver and epithelial cells of intestinal mucosa, has been cloned...
  90. Jiang Y, Almannai M, Sutton V, Sun Q, Elsea S. Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels. Mol Genet Metab. 2017;122:39-45 pubmed publisher
    ..deficiencies, namely n-acetylglutamate synthase deficiency (NAGS), carbamoyl phosphate synthetase I deficiency (CPS1), ornithine transcarbamylase deficiency (OTC), argininosuccinate lyase deficiency (ASL), citrullinemia type I (ASS1)..
  91. Haberle J, Koch H. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn. 2004;24:378-83 pubmed
    ..Direct genetic analysis of chorionic villi or amniotic fluid cells is feasible, fast, and specific, and can be regarded as the method of choice for prenatal diagnosis in urea cycle disorders. ..