CPS1 (carbamoyl-phosphate synthase 1)

2007-09-01  

Identity

HGNC
CPS1
LOCATION
2q34
LOCUSID
1373
ALIAS
CPSASE1,GATD6,PHN
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
368099532023Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.0
370477262023NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.0
370547522023The Role of Carbamoyl Phosphate Synthetase 1 as a Prognostic Biomarker in Patients With Acetaminophen-induced Acute Liver Failure.9
374275762023Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.0
368099532023Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.0
370477262023NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.0
370547522023The Role of Carbamoyl Phosphate Synthetase 1 as a Prognostic Biomarker in Patients With Acetaminophen-induced Acute Liver Failure.9
374275762023Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.0
349731832022Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.1
360647212022O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.6
360989042022Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer.1
349731832022Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.1
360647212022O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.6
360989042022Ornithine aminotransferase and carbamoyl phosphate synthetase 1 involved in ammonia metabolism serve as novel targets for early stages of gastric cancer.1
333876642021Mitochondrial dysfunction as a mechanistic biomarker in patients with non-alcoholic fatty liver disease (NAFLD).26

Citation

Dessen P

CPS1 (carbamoyl-phosphate synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49721/cps1-(carbamoyl-phosphate-synthase-1)