Gene: CPS1

Alternate names for this Gene: CPSASE1|PHN

Gene Summary: The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.

Gene is located in Chromosome: 2

Location in Chromosome : 2q34

Description of this Gene: carbamoyl-phosphate synthase 1

Type of Gene: protein-coding

rs1047891 in CPS1 gene and Alanine aminotransferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1047891 in CPS1 gene and Albuminuria PMID 30220432 2018 Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.

rs1047891 in CPS1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs1047891 in CPS1 gene and Amino acids measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

PMID 26068415 2015 Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs187097936 in CPS1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1047891 in CPS1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1047891 in CPS1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs715 in CPS1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1047891 in CPS1 gene and Chronic Kidney Diseases PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.

rs1047891 in CPS1 gene and Creatinine measurement, serum (procedure) PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs1047891 in CPS1 gene and Diabetes PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs1047891 in CPS1 gene and Diabetes Mellitus PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs715 in CPS1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1047891 in CPS1 gene and Fibrinogen assay PMID 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.

PMID 28107422 2017 Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.

PMID 26561523 2016 A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.

PMID 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.

rs1047891 in CPS1 gene and Fibrinogen, CTCAE PMID 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.

PMID 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.

rs1047891 in CPS1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1047891 in CPS1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs1047891 in CPS1 gene and Glycine measurement PMID 31070104 2019 Genetic Determinants of Circulating Glycine Levels and Risk of Coronary Artery Disease.

PMID 30837465 2019 Assessing the causal association of glycine with risk of cardio-metabolic diseases.

PMID 30659259 2019 Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

rs1047891 in CPS1 gene and High density lipoprotein measurement PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs1047891 in CPS1 gene and Homocysteine measurement PMID 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.

PMID 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.

PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

PMID 20154341 2010 The most strongly associated single-nucleotide polymorphism (SNP) (rs7422339, P = 4.7 x 10(-13)) encodes Thr1405Asn in the gene CPS1 and explained 3.0% of variation in the Hcy level.

rs1015051007 in CPS1 gene and Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency PMID 12955727 2003 Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

PMID 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.

PMID 26440671 2016 Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.

PMID 15164414 2004 Genetic approach to prenatal diagnosis in urea cycle defects.

PMID 17310273 2007 Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency.

PMID 23649895 2013 Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool.

PMID 9711878 1998 Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1.

PMID 15617192 2004 Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

PMID 20578160 2010 Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis.

PMID 16737834 2006 The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency.

PMID 21120950 2011 Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

PMID 12655559 2003 Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

PMID 22173106 2012 Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

PMID 11474210 2001 Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

PMID 11388595 2001 Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

PMID 28526534 2017 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

PMID 15876373 2005 Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.

PMID 27150549 2016 Loss of Hep Par 1 immunoreactivity in the livers of patients with carbamoyl phosphate synthetase 1 deficiency.

PMID 9686343 1998 Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.

PMID 20855223 2011 Molecular characterization of CPS1 deletions by array CGH.

PMID 28007335 2017 Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

PMID 19793055 2009 Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

rs715 in CPS1 gene and Insulin Sensitivity Measurement PMID 23378610 2013 Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.

rs1047891 in CPS1 gene and Kidney Failure, Chronic PMID 29545352 2018 Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.

rs1047891 in CPS1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs1047891 in CPS1 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1047891 in CPS1 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1047891 in CPS1 gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1047891 in CPS1 gene and Protein measurement PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

rs715 in CPS1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs715 in CPS1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1047891 in CPS1 gene and Serum Alanine Aminotransferase Measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1047891 in CPS1 gene and Serum HDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs1047891 in CPS1 gene and Serum albumin measurement PMID 24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.

rs1047891 in CPS1 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1047891 in CPS1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs1047891 in CPS1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1047891 in CPS1 gene and fibrinogen activity PMID 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.

PMID 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.