UMPS (uridine monophosphate synthetase)

2006-10-01  

Identity

HGNC
UMPS
LOCATION
3q21.2
LOCUSID
7372
ALIAS
OPRT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7372
MIM: 613891
HGNC: 12563
Ensembl: ENSG00000114491

Variants:

dbSNP: 7372
ClinVar: 7372
TCGA: ENSG00000114491
COSMIC: UMPS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114491ENST00000232607P11172
ENSG00000114491ENST00000232607A8K5J1
ENSG00000114491ENST00000460034F2Z303
ENSG00000114491ENST00000462091F2Z3P2
ENSG00000114491ENST00000467167F2Z303
ENSG00000114491ENST00000474588F8WDG4
ENSG00000114491ENST00000479719E9PFD2
ENSG00000114491ENST00000497791F2Z3P2
ENSG00000114491ENST00000628619F2Z303

Expression (GTEx)

0
5
10
15
20
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
Pyrimidine metabolismKEGGko00240
Drug metabolism - other enzymesKEGGko00983
Pyrimidine metabolismKEGGhsa00240
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMPKEGGM00051
Uridine monophosphate biosynthesis, glutamine (+ PRPP) => UMPKEGGhsa_M00051
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Pyrimidine metabolismREACTOMER-HSA-73848
Pyrimidine biosynthesisREACTOMER-HSA-500753

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPKPD16818689, 20647221
PA443448AstheniaDiseaseClinicalAnnotationassociatedPD28347776
PA443937Drug ToxicityDiseaseClinicalAnnotationassociatedPKPD16818689, 20647221
PA445048NauseaDiseaseClinicalAnnotationassociatedPD28347776
PA445058Neoplasm MetastasisDiseaseClinicalAnnotationassociatedPD
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD28347776
PA446051VomitingDiseaseClinicalAnnotationassociatedPD28347776
PA448771capecitabineChemicalClinicalAnnotationassociatedPKPD16818689, 20647221, 28347776
PA450198leucovorinChemicalClinicalAnnotationassociatedPKPD16818689, 20647221
PA452620tegafurChemicalClinicalAnnotationassociatedPKPD16818689, 20647221

References

Pubmed IDYearTitleCitations
193327282009Pharmacogenetic analyses of a phase III trial in metastatic gastroesophageal adenocarcinoma with fluorouracil and leucovorin plus either oxaliplatin or cisplatin: a study of the arbeitsgemeinschaft internistische onkologie.39
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
145620212003Both gene expression for orotate phosphoribosyltransferase and its ratio to dihydropyrimidine dehydrogenase influence outcome following fluoropyrimidine-based chemotherapy for metastatic colorectal cancer.19
168186892006Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen.15
190207672008Thymidylate synthase, dihydropyrimidine dehydrogenase, orotate phosphoribosyltransferase mRNA and protein expression levels in solid tumors in large scale population analysis.12
190207402008Decreased orotate phosphoribosyltransferase activity produces 5-fluorouracil resistance in a human gastric cancer cell line.11
206472212011Associations of various gene polymorphisms with toxicity in colorectal cancer patients receiving oral uracil and tegafur plus leucovorin: a prospective study.9
178547732007Orotate phosphoribosyltransferase expression level in tumors is a potential determinant of the efficacy of 5-fluorouracil.8
222493542013Novel mRNA isoforms and mutations of uridine monophosphate synthetase and 5-fluorouracil resistance in colorectal cancer.7
241584422013Transition state analogues of Plasmodium falciparum and human orotate phosphoribosyltransferases.7

Citation

Dessen P

UMPS (uridine monophosphate synthetase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43555/umps