UMPS
This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Full Name
uridine monophosphate synthetase
Function
Bifunctional enzyme catalyzing the last two steps of de novo pyrimidine biosynthesis, orotate phosphoribosyltransferase (OPRT), which converts orotate to orotidine-5'-monophosphate (OMP), and orotidine-5'-monophosphate decarboxylase (ODC), the terminal enzymatic reaction that decarboxylates OMP to uridine monophosphate (UMP).
Biological Process
Biological Process 'de novo' pyrimidine nucleobase biosynthetic process Source:InterPro
Biological Process 'de novo' UMP biosynthetic process Source:UniProtKB-UniPathway
Biological Process cellular response to xenobiotic stimulus Source:Ensembl
Biological Process female pregnancy Source:Ensembl
Biological Process lactation Source:Ensembl
Biological Process pyrimidine nucleobase biosynthetic process Source:GO_Central1 Publication
Biological Process UDP biosynthetic process Source:Ensembl
Biological Process UMP biosynthetic process Source:UniProtKB4 Publications
Biological Process 'de novo' UMP biosynthetic process Source:UniProtKB-UniPathway
Biological Process cellular response to xenobiotic stimulus Source:Ensembl
Biological Process female pregnancy Source:Ensembl
Biological Process lactation Source:Ensembl
Biological Process pyrimidine nucleobase biosynthetic process Source:GO_Central1 Publication
Biological Process UDP biosynthetic process Source:Ensembl
Biological Process UMP biosynthetic process Source:UniProtKB4 Publications
Cellular Location
cytoplasm
cytosol
nucleus
cytosol
nucleus
Involvement in disease
Orotic aciduria 1 (ORAC1):
A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.
A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and intellectual disability. A minority of cases have additional features, particularly congenital malformations and immune deficiencies.
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Anti-UMPS antibodies
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Target: UMPS
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBCNC-791
Application*: WB
Target: UMPS
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 2F5
Application*: E, WB
Target: UMPS
Host: Mouse
Specificity: Human
Clone: 2B10
Application*: E, IF, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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