UMPS
Uridine Monophosphate Synthetase
Gene Information Card
| Symbol | UMPS |
|---|---|
| Full Name | Uridine monophosphate synthetase |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.32 |
| NCBI Gene ID | 7372 ncbi.nlm.nih.gov/gene/7372 |
| Ensembl ID | ENSG00000114491 |
| UniProt ID | P11172 |
| OMIM ID | 613891 |
| HGNC ID | 12566 |
| Aliases | OPRT, OPRTase, UMPS, OMPdecase, OMPDCase, OPRT, OPRTase, OMPdecase, OMPDCase |
Description
The UMPS gene encodes uridine monophosphate synthetase, a bifunctional enzyme that catalyzes the last two steps of de novo pyrimidine biosynthesis: orotate phosphoribosyltransferase (OPRT) and orotidine-5'-phosphate decarboxylase (OMPDC) activities. This enzyme converts orotate to uridine monophosphate (UMP), a precursor for all pyrimidine nucleotides. Deficiency in UMPS leads to hereditary orotic aciduria, a rare autosomal recessive disorder characterized by orotic acid crystalluria, megaloblastic anemia, and developmental delay.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary orotic aciduria | Loss-of-function mutations in UMPS impair OPRT and/or OMPDC activities, causing accumulation of orotic acid and deficiency of pyrimidine nucleotides, leading to megaloblastic anemia and orotic acid crystalluria. | ClinVar, OMIM |
| Orotic aciduria type I | Deficiency of OPRT activity due to UMPS mutations results in orotic aciduria with megaloblastic anemia. | OMIM |
| Orotic aciduria type II | Deficiency of OMPDC activity due to UMPS mutations results in orotic aciduria with megaloblastic anemia. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 7.1 | Medium |
| Testis | 6.8 | Medium |
| Spleen | 5.4 | Medium |
| Lung | 4.2 | Low |
| Heart | 3.9 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line, high expression |
| HEK 293 | 7.5 | Embryonic kidney cells, medium expression |
| K-562 | 6.0 | Leukemia cell line, medium expression |
| A549 | 4.8 | Lung carcinoma, low expression |
| MCF7 | 3.5 | Breast cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.496C>T (p.Arg166*) | Nonsense | Rare | Loss of function; associated with hereditary orotic aciduria |
| c.638G>A (p.Arg213Gln) | Missense | Rare | Reduced OPRT activity; pathogenic in orotic aciduria |
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Reduced OMPDC activity; pathogenic in orotic aciduria |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with hereditary orotic aciduria |
Mutation functional classification
Loss of Function (LOF)
Most UMPS mutations are loss-of-function, leading to reduced or absent OPRT and/or OMPDC enzyme activities, causing hereditary orotic aciduria.
Gain of Function (GOF)
No gain-of-function mutations have been reported for UMPS.
Dominant Negative (DN)
No dominant-negative mutations have been reported for UMPS.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pyrimidine metabolism (KEGG: hsa00240)
• De novo pyrimidine biosynthesis (Reactome: R-HSA-500753)
Protein Summary
Uridine monophosphate synthetase (UMPS) is a 529-amino acid bifunctional enzyme that catalyzes the final two steps of de novo pyrimidine biosynthesis. The N-terminal domain possesses orotate phosphoribosyltransferase (OPRT) activity, converting orotate and PRPP to orotidine-5'-monophosphate (OMP). The C-terminal domain possesses orotidine-5'-phosphate decarboxylase (OMPDC) activity, converting OMP to uridine monophosphate (UMP). UMP is the precursor for all pyrimidine nucleotides (CTP, TTP, UTP). UMPS is expressed in most tissues, with highest levels in liver and kidney. Deficiency causes hereditary orotic aciduria, treatable with uridine supplementation.
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