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Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)
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| PDB rendering based on 2eaw. | ||
| Available structures: 2eaw, 2jgy, 2p1f | ||
| Identifiers | ||
| Symbols | UMPS; OPRT | |
| External IDs | OMIM: 258900 MGI: 1298388 HomoloGene: 319 | |
| RNA expression pattern | ||
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| Orthologs | ||
| Human | Mouse | |
| Entrez | 7372 | 22247 |
| Ensembl | ENSG00000114491 | ENSMUSG00000022814 |
| Uniprot | P11172 | Q3TVV7 |
| Refseq | NM_000373 (mRNA) NP_000364 (protein) |
NM_009471 (mRNA) NP_033497 (protein) |
| Location | Chr 3: 125.93 - 125.95 Mb | Chr 16: 33.87 - 33.89 Mb |
| Pubmed search | [1] | [2] |
Uridine monophosphate synthetase (UMPS) (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) is the enzyme (EC 4.1.1.23) that catalyses the formation of uridine monophosphate (UMP), an energy carrying molecule in many important biosynthetic pathways. [1] In humans, the gene that codes for this enzyme is located on the long arm of chromosome 3 (3q13).[2]
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Clinical significance
A UMP synthetase deficiency can result in a metabolic disorder called orotic aciduria.[3]
Deficiency of this enzyme is an inherited autosomal recessive trait in
Deficiency of the enzyme can be studied in the model organism Caenorhabditis elegans. The rad-6 strain has a premature stop codon eliminating the orotidine 5’-decarboxylase domain of the protein; this domain does not occur in any other proteins encoded by the genome. The strain has a pleiotropic phenotype including reduced viability and fertility, slow growth and radiation sensitivity.[5]
See also
References
- ^ "Entrez Gene: UMPS uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7372.
- ^ Qumsiyeh MB, Valentine MB, Suttle DP (July 1989). "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics 5 (1): 160–2. doi:. PMID 2767686.
- ^ Suchi M, Mizuno H, Kawai Y, Tsuboi T, Sumi S, Okajima K, Hodgson ME, Ogawa H, Wada Y (March 1997). "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families". Am. J. Hum. Genet. 60 (3): 525–39. PMID 9042911.
- ^ Shanks RD, Robinson JL (November 1989). "Embryonic mortality attributed to inherited deficiency of uridine monophosphate synthase". J. Dairy Sci. 72 (11): 3035–9. PMID 2625493. http://jds.fass.org/cgi/pmidlookup?view=long&pmid=2625493.
- ^ Merry, A. (2007). Characterisation and Identification of a Radiation Sensitive Mutant in Caenorhabditis elegans. Biochemistry, Bristol. PhD.
Further reading
- Suchi M, Harada N, Tsuboi T, et al. (1990). "Molecular cloning of human UMP synthase". Adv. Exp. Med. Biol. 253A: 511–8. PMID 2624233.
- Qumsiyeh MB, Valentine MB, Suttle DP (1989). "Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization". Genomics 5 (1): 160–2. doi:. PMID 2767686.
- Suttle DP, Bugg BY, Winkler JK, Kanalas JJ (1988). "Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase". Proc. Natl. Acad. Sci. U.S.A. 85 (6): 1754–8. doi:. PMID 3279416.
- Patterson D, Jones C, Morse H, et al. (1983). "Structural gene coding for multifunctional protein carrying orotate phosphoribosyltransferase and OMP decarboxylase activity is located on long arm of human chromosome 3". Somatic Cell Genet. 9 (3): 359–74. doi:. PMID 6574608.
- McClard RW, Black MJ, Livingstone LR, Jones ME (1981). "Isolation and initial characterization of the single polypeptide that synthesizes uridine 5'-monophosphate from orotate in Ehrlich ascites carcinoma. Purification by tandem affinity chromatography of uridine-5'-monophosphate synthase". Biochemistry 19 (20): 4699–706. doi:. PMID 6893554.
- Iannuzzi L, Di Meo GP, Ryan AM, et al. (1994). "Localization of uridine monophosphate synthase (UMPS) gene to river buffalo chromosomes by FISH". Chromosome Res. 2 (3): 255–6. doi:. PMID 8069469.
- Suchi M, Mizuno H, Kawai Y, et al. (1997). "Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families". Am. J. Hum. Genet. 60 (3): 525–39. PMID 9042911.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Ichikawa W, Uetake H, Shirota Y, et al. (2003). "Both gene expression for orotate phosphoribosyltransferase and its ratio to dihydropyrimidine dehydrogenase influence outcome following fluoropyrimidine-based chemotherapy for metastatic colorectal cancer". Br. J. Cancer 89 (8): 1486–92. doi:. PMID 14562021.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:. PMID 15489334.
- Miyoshi Y, Uemura H, Ishiguro H, et al. (2005). "Expression of thymidylate synthase, dihydropyrimidine dehydrogenase, thymidine phosphorylase, and orotate phosphoribosyl transferase in prostate cancer". Prostate Cancer Prostatic Dis. 8 (3): 260–5. doi:. PMID 15999119.
- Ochiai T, Sugitani M, Nishimura K, et al. (2006). "Impact of orotate phosphoribosyl transferase activity as a predictor of lymph node metastasis in gastric cancer". Oncol. Rep. 14 (4): 987–92. PMID 16142362.
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell 122 (6): 957–68. doi:. PMID 16169070.
- Kitajima M, Takita N, Hata M, et al. (2006). "The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer". Oncol. Rep. 15 (1): 161–5. PMID 16328050.
- Ichikawa W, Takahashi T, Suto K, et al. (2007). "Orotate phosphoribosyltransferase gene polymorphism predicts toxicity in patients treated with bolus 5-fluorouracil regimen". Clin. Cancer Res. 12 (13): 3928–34. doi:. PMID 16818689.
- Taomoto J, Yoshida K, Wada Y, et al. (2007). "Overexpression of the orotate phosphoribosyl-transferase gene enhances the effect of 5-fluorouracil on gastric cancer cell lines". Oncology 70 (6): 458–64. doi:. PMID 17237621.
- Nio Y, Toga T, Maruyama R, Fukushima M (2007). "Expression of orotate phosphoribosyl transferase in human pancreatic cancer: implication for the efficacy of uracil and tegafur-based adjuvant chemotherapy". Oncol. Rep. 18 (1): 59–64. PMID 17549346.
- Sanada Y, Yoshida K, Ohara M, Tsutani Y (2007). "Expression of orotate phosphoribosyltransferase (OPRT) in hepatobiliary and pancreatic carcinoma". Pathol. Oncol. Res. 13 (2): 105–13. doi:. PMID 17607371.
- Sakamoto E, Nagase H, Kobunai T, et al. (2007). "Orotate phosphoribosyltransferase expression level in tumors is a potential determinant of the efficacy of 5-fluorouracil". Biochem. Biophys. Res. Commun. 363 (1): 216–22. doi:. PMID 17854773.
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