Uridine 5'-monophosphate synthase (UMPS)
The protein contains 480 amino acids for an estimated molecular weight of 52222 Da.
No function (updated: April 1, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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| Variant | Description |
|---|---|
| dbSNP:rs17843776 | |
| ORAC1 | |
| ORAC1 | |
| dbSNP:rs1801019 | |
| ORAC1 | |
| dbSNP:rs3772809 |
Biological Process
'de novo' pyrimidine nucleobase biosynthetic process
'de novo' UMP biosynthetic process
Cellular response to drug
Female pregnancy
Lactation
Nucleobase-containing small molecule metabolic process
Pyrimidine nucleobase biosynthetic process
Pyrimidine nucleobase metabolic process
Pyrimidine nucleoside biosynthetic process
Small molecule metabolic process
UMP biosynthetic process
The reference OMIM entry for this protein is 258900
Orotic aciduria
Orotic aciduria i
Orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency
Oprt and odc deficiency
Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency
Uridine monophosphate synthase deficien
A number sign (#) is used with this entry because orotic aciduria can be caused by compound heterozygous mutation in the UMPS gene (613891), which encodes a bifunctional enzyme with orotate phosphoribosyltransferase (OPRT) and orotidylic decarboxylase (ODC) activity, on chromosome 3q13.
DESCRIPTION
Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001). Bailey (2009) reported that to that time, 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.CLINICAL FEATURES
The phenotypic features of orotic aciduria are megaloblastic anemia that is unresponsive to vitamin B12 and folic acid, hypochromic, microcytic circulating erythrocytes that persist with administration of iron or pyridoxine, large amounts of orotic acid in the urine, and correction of anemia and reduction in orotic acid excretion when uridylic acid and cytidylic acid are administered (Huguley et al., 1959). Fallon et al. (1964) studied extensively the heterozygotes in the first family described (Huguley et al., 1959). A second family was discovered in New Zealand and a third in Texas (Haggard and Lockhart, 1965). In the last patient, urinary obstruction was produced by the high urinary excretion of orotic acid. Rogers et al. (1968) described another case, from North Carolina. Girot et al. (1983) stated that only 9 cases had been reported; they added 2 more, sibs with a defect in cellular immunity. Humoral immunity was normal. Severe infections had been reported in some patients; 1 died of varicella and another of meningitis. The patients reported by Girot et al. (1983) were Senegalese and the offspring of first cousins. Becroft et al. (1984) questioned the conclusion of Girot et al. (1983) that immunodeficiency can be an integral feature of orotic aciduria. They provided follow-up on the longest surviving patient, aged 21 years, treated with uridine from the age of 17 months (Becroft et al., 1969). In later years his dose of uridine had been 3 g/d by mouth and he was in good health and had regular employment. No evidence of immunodeficiency was found with or without uridine therapy.DIAGNOSIS
Rogers and Porter (1968) devised a screening test for orotic aciduria that is effective in detecting either homozygotes or heterozygotes.BIOCHEMICAL FEATURES
- Orotic Aciduria Two enzymatic functions are defective in this disorder: orotate phosphoribosyltransferase (OPRT; EC 2.4.2.10) and OMP decarboxylase (ODC; EC 4.1.1.23), which catalyze the last 2 steps in uridine monophosphate biosynthesis (Fallon et al., 1964). These 2 enzymes are present in a single polypeptide, so that there is a single bifunctional enzyme (UMPS) (summary by Bailey, 2009). Worthy et al. (1974) concluded that the mutation causing orotic aciduria is structural because orotidine-5-prime-phosphate decarboxylase from homozygous cells was abnormally thermolabile and showed electrophoretic abnormality. Winkler and Suttle (1988) found no decrease in the amount of UMP synthase mRNA and no detectable differ ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 258900 was added.
Jan. 25, 2016: Protein entry updated
Automatic update: model status changed