Property Summary

NCBI Gene PubMed Count 72
PubMed Score 180.10
PubTator Score 378.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Expression

  Differential Expression (10)

Disease log2 FC p
psoriasis -1.300 2.6e-03
posterior fossa group A ependymoma 1.600 3.7e-07
glioblastoma 1.700 1.5e-02
atypical teratoid / rhabdoid tumor 1.200 1.1e-02
medulloblastoma, large-cell 1.800 2.0e-04
lung cancer 3.400 5.4e-06
active ulcerative colitis 3.476 1.3e-02
pediatric high grade glioma 1.700 1.1e-03
Breast cancer -1.800 1.4e-13
invasive ductal carcinoma -1.100 7.1e-04

Protein-protein Interaction (2)

Gene RIF (41)

PMID Text
26938218 CPS1 is involved in the urea cycle in weight maintenance.
26822151 These results suggest that glycine metabolism and/or the urea cycle represent potentially novel sex-specific mechanisms for the development of atherosclerosis.
26592762 Molecular structure of CPS1 has been deciphered.
26499888 CPS1 and CPS1IT1 may be potential prognostic indicators for patients with intrahepatic cholangiocarcinoma.
26059772 Mechanism for Switching On/Off the Urea Cycle
25410056 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
25099619 Overexpression of CPS1 is associated with rectal cancers.
24924744 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.
24888247 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
24813853 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.
24763545 More HCC cells could be identified by the antibody cocktail for CPS1 and P-CK compared with a single antibody.
22692827 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.
22521883 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]
22173106 Mutation analysis in these patients identified 17 genetic lesions, 9 of which were new confirming their "private" nature.
21837743 Case Report: Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
21281797 DNA methylation is a key mechanism of silencing CPS1 expression in human hepatocellular carcinoma cells.
21120950 This is the first large-scale report of CPS1 mutations spanning a wide variety of molecular defects highlighting important regions in this protein.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20800523 structure-function analysis and pathogenicity-testing of mutations in CPS1
20659789 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20578160 Data reported five of the CPS1 mutations (p.T471N, p.Q678P, p.P774L, p.R1453Q, and p.R1453W) in severe CPS1D patients.
20520828 The present study in preterm infants did not confirm the earlier reported association between CPS1 genotype and L-arginine levels in term infants.
20520828 Observational study of gene-disease association. (HuGE Navigator)
20456087 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20383146 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20154341 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.
20154341 Observational study and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20031578 CPS1, MUT, NOX4, and DPEP1 is associated with plasma homocysteine in healthy Women.
20031578 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19926579 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.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19793055 Allelic imbalance may explain clinical variability in CPS1 deficiency in some families.
19754428 Tight hydrogen binding mode is supported by the observation of reduced NAG affinity upon mutation of N-acetyl-L-glutamate-interacting residues of CPSI
17597649 Observational study of gene-disease association. (HuGE Navigator)
17597649 CPPS1 T1404N polymorphism may be associated with the risk of necrotizing enterocolitis in preterm infants.
17188582 Observational study of gene-disease association. (HuGE Navigator)
17188582 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.
14718356 Observational study of gene-disease association. (HuGE Navigator)
12655559 The entire DNA sequence of the human CPS1 gene is presented, including all exon-intron boundaries.

AA Sequence

MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGE      1 - 70
VVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDY     71 - 140
NHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVK    141 - 210
VYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPALAEPLIQNVRK    211 - 280
ILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWK    281 - 350
PLFVNVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRV    351 - 420
EVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQ    421 - 490
FVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEK    491 - 560
IAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK    561 - 630
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQ    631 - 700
FALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMV    701 - 770
TKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLR    771 - 840
KELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNSESMTEETLKRAKEI    841 - 910
GFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYVTYNGQEHDVNFDDHGMMVLG    911 - 980
CGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETVSTDFDECDKLYFEELSLERILDIYHQEACG    981 - 1050
GCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAK   1051 - 1120
SVDYPCLLRPSYVLSGSAMNVVFSEDEMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISH   1121 - 1190
AISEHVEDAGVHSGDATLMLPTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRA   1191 - 1260
SRSFPFVSKTLGVDFIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMA   1261 - 1330
STGEVACFGEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNA   1331 - 1400
NNVPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVT   1401 - 1470
KLFAEAVQKSRKVDSKSLFHYRQYSAGKAA                                           1471 - 1500
//

Text Mined References (87)

PMID Year Title
26938218 2016 Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance.
26822151 2016 Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.
26592762 2015 Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.
26499888 2015 Co?expression of the carbamoyl?phosphate synthase 1 gene and its long non?coding RNA correlates with poor prognosis of patients with intrahepatic cholangiocarcinoma.
26440671 2016 Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
26059772 2015 The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle.
25410056 2014 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.
25099619 2014 Overexpression of CPS1 is an independent negative prognosticator in rectal cancers receiving concurrent chemoradiotherapy.
24924744 2014 Carbamoyl phosphate synthetase-1 is a rapid turnover biomarker in mouse and human acute liver injury.
24888247 2014 4217C>A polymorphism in carbamoyl-phosphate synthase 1 gene may not associate with hyperammonemia development during valproic acid-based therapy.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24813853 2014 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.
24763545 2014 Detection of circulating tumor cells in hepatocellular carcinoma using antibodies against asialoglycoprotein receptor, carbamoyl phosphate synthetase 1 and pan-cytokeratin.
24703693 2014 Lysine glutarylation is a protein posttranslational modification regulated by SIRT5.
24651765 2014 Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24237036 2014 Large-scale quantification of single amino-acid variations by a variation-associated database search strategy.
24097068 2013 Discovery and refinement of loci associated with lipid levels.
23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
23649895 2013 Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.
23517042 2013 Genome-wide association study of body mass index in 23 000 individuals with and without asthma.
23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23144319 2013 Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
22692827 2012 N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease.
22521883 2012 Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains.
22173106 2012 Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.
22002106 2012 Systematic analysis of protein pools, isoforms, and modifications affecting turnover and subcellular localization.
21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.
21837743 2011 Late-onset carbamoyl phosphate synthetase 1 deficiency in an adult cured by liver transplantation.
21767969 Personalized genomic medicine: lessons from the exome.
21281797 2011 DNA methylation suppresses expression of the urea cycle enzyme carbamoyl phosphate synthetase 1 (CPS1) in human hepatocellular carcinoma.
21269460 2011 Initial characterization of the human central proteome.
21120950 2011 Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20800523 2010 Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency.
20659789 2010 Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20618440 2010 Proteomic and biochemical analysis of 14-3-3-binding proteins during C2-ceramide-induced apoptosis.
20578160 2010 Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.
20520828 2010 The T1405N carbamoyl phosphate synthetase polymorphism does not affect plasma arginine concentrations in preterm infants.
20456087 2010 Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia.
20383146 2010 New loci associated with kidney function and chronic kidney disease.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20154341 2010 Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.
20031578 2009 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.
20031577 2009 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.
19926579 2009 Loss of carbamoyl phosphate synthetase I in small-intestinal adenocarcinoma.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19793055 2009 Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?
19754428 2009 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.
19410549 2009 SIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycle.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17597649 2007 Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.
17310273 2007 Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.
17188582 2007 Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study.
16737834 The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15897806 2005 Release of the mitochondrial enzyme carbamoyl phosphate synthase under septic conditions.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15715943 2005 Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis.
15617192 2004 Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15164414 2004 Genetic approach to prenatal diagnosis in urea cycle defects.
15161933 2004 Comprehensive proteomic analysis of interphase and mitotic 14-3-3-binding proteins.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14718356 2004 Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12955727 2003 Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.
12853138 2003 Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene.
12655559 2003 Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.
12620389 2003 Novel raf kinase protein-protein interactions found by an exhaustive yeast two-hybrid analysis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11474210 2001 Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
11407344 2001 Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.
11388595 2001 Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.
9711878 1998 Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.
8486760 1993 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.
7590739 1995 Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization.
7416778 1980 Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.
6249820 1980 Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver.
2517620 1989 Carbamyl phosphate synthetase I. A novel marker for gastric carcinoma.
1840546 1991 Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemia.