CPS1 (carbamoyl-phosphate synthase 1)

2007-09-01  

Identity

HGNC
LOCATION
2q34
LOCUSID
ALIAS
CPSASE1,GATD6,PHN
FUSION GENES

Other Information

Locus ID:

NCBI: 1373
MIM: 608307
HGNC: 2323
Ensembl: ENSG00000021826

Variants:

dbSNP: 1373
ClinVar: 1373
TCGA: ENSG00000021826
COSMIC: CPS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021826ENST00000233072P31327
ENSG00000021826ENST00000233072A0A024R454
ENSG00000021826ENST00000430249P31327
ENSG00000021826ENST00000451903P31327
ENSG00000021826ENST00000619804Q5R211
ENSG00000021826ENST00000673510A0A024R454
ENSG00000021826ENST00000673630A0A024R454
ENSG00000021826ENST00000673711A0A024R454

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Nitrogen metabolismKEGGko00910
Arginine biosynthesisKEGGhsa00220
Nitrogen metabolismKEGGhsa00910
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
Urea cycleKEGGhsa_M00029
Urea cycleKEGGM00029
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA143485705antiepilepticsChemicalVariantAnnotationassociatedPD20456087
PA166114316sodium phenylbutyrateChemicalLabelAnnotationassociated
PA166176020sodium benzoate / sodium phenylacetateChemicalLabelAnnotationassociated
PA444065EpilepsyDiseaseVariantAnnotationassociatedPD20456087
PA447146HyperammonemiaDiseaseVariantAnnotationassociatedPD20456087
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765
PA451846valproic acidChemicalVariantAnnotationassociatedPD20456087

References

Pubmed IDYearTitleCitations
203831462010New loci associated with kidney function and chronic kidney disease.337
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206597892010Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
200315782009Novel 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.54
200315782009Novel 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.54
285387322017CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells.50
201543412010Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.41
201543412010Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.41
268221512016Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease.35

Citation

Dessen P

CPS1 (carbamoyl-phosphate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49721/cps1