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Aliases for UMPS Gene

Aliases for UMPS Gene

  • Uridine Monophosphate Synthetase 2 3 5
  • UMP Synthase 3 4
  • Orotate Phosphoribosyl Transferase And Orotidine-5-Decarboxylase 2
  • Orotidine 5-Phosphate Decarboxylase 3
  • Orotate Phosphoribosyltransferase 3
  • OMPdecase 3
  • OPRTase 3
  • OPRT 3

External Ids for UMPS Gene

Previous GeneCards Identifiers for UMPS Gene

  • GC03P121158
  • GC03P124466
  • GC03P125731
  • GC03P125770
  • GC03P125931
  • GC03P121823
  • GC03P124449

Summaries for UMPS Gene

Entrez Gene Summary for UMPS Gene

  • 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]

GeneCards Summary for UMPS Gene

UMPS (Uridine Monophosphate Synthetase) is a Protein Coding gene. Diseases associated with UMPS include Orotic Aciduria and Pyrimidine Metabolic Disorder. Among its related pathways are Purine metabolism and Metabolism. GO annotations related to this gene include transferase activity and orotidine-5-phosphate decarboxylase activity.

Gene Wiki entry for UMPS Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UMPS Gene

Genomics for UMPS Gene

Regulatory Elements for UMPS Gene

Enhancers for UMPS Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UMPS on UCSC Golden Path with GeneCards custom track

Promoters for UMPS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UMPS on UCSC Golden Path with GeneCards custom track

Genomic Location for UMPS Gene

124,730,366 bp from pter
124,749,273 bp from pter
18,908 bases
Plus strand

Genomic View for UMPS Gene

Genes around UMPS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UMPS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UMPS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UMPS Gene

Proteins for UMPS Gene

  • Protein details for UMPS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uridine 5-monophosphate synthase
    Protein Accession:
    Secondary Accessions:
    • B5LY68
    • B5LY72
    • O00758
    • O00759
    • O00760
    • Q16862
    • Q9H3Q2
    • Q9UG49

    Protein attributes for UMPS Gene

    480 amino acids
    Molecular mass:
    52222 Da
    Quaternary structure:
    • Homodimer.
    • Sequence=CAB45710.3; Type=Erroneous termination; Positions=430; Note=Translated as Gln.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UMPS Gene

    Alternative splice isoforms for UMPS Gene


neXtProt entry for UMPS Gene

Proteomics data for UMPS Gene at MOPED

Post-translational modifications for UMPS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UMPS Gene

Domains & Families for UMPS Gene

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
  • In the C-terminal section; belongs to the OMP decarboxylase family.
genes like me logo Genes that share domains with UMPS: view

No data available for Gene Families for UMPS Gene

Function for UMPS Gene

Molecular function for UMPS Gene

GENATLAS Biochemistry:
uridine monophosphate synthase,pyrimidine de novo biosynthesis (see ODC,OPRT)
UniProtKB/Swiss-Prot CatalyticActivity:
Orotidine 5-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Orotidine 5-phosphate = UMP + CO(2).
genes like me logo Genes that share phenotypes with UMPS: view

Human Phenotype Ontology for UMPS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for UMPS Gene

Localization for UMPS Gene

Subcellular locations from

Jensen Localization Image for UMPS Gene COMPARTMENTS Subcellular localization image for UMPS gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 2
peroxisome 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for UMPS Gene

Pathways & Interactions for UMPS Gene

genes like me logo Genes that share pathways with UMPS: view

UniProtKB/Swiss-Prot P11172-UMPS_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2.
  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2.

Gene Ontology (GO) - Biological Process for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006221 pyrimidine nucleotide biosynthetic process IEA --
GO:0006222 UMP biosynthetic process IEA,IDA 6893554
GO:0007595 lactation IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with UMPS: view

No data available for SIGNOR curated interactions for UMPS Gene

Drugs & Compounds for UMPS Gene

(13) Drugs for UMPS Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1697
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1239
Diphosphate Experimental Pharma 0
Orotic Acid Experimental Pharma 0
6-Hydroxyuridine-5'-Phosphate Experimental Pharma Target 0

(23) Additional Compounds for UMPS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Fluorouridine monophosphate
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
Orotidylic acid
  • 1,2,3,6-Tetrahydro-2,6-dioxo-3-(5-O-phosphono-b-D-ribofuranosyl)-4-Pyrimidinecarboxylate
  • 1,2,3,6-Tetrahydro-2,6-dioxo-3-(5-O-phosphono-b-D-ribofuranosyl)-4-Pyrimidinecarboxylic acid
  • 1,2,3,6-Tetrahydro-2,6-dioxo-3-(5-O-phosphono-beta-delta-ribofuranosyl)-4-Pyrimidinecarboxylate
  • 1,2,3,6-Tetrahydro-2,6-dioxo-3-(5-O-phosphono-beta-delta-ribofuranosyl)-4-Pyrimidinecarboxylic acid
  • 2,6-Dioxo-3-(5-O-phosphono-beta-D-ribofuranosyl)-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid
  • Hyposulfite
  • S-Hydril
  • Sodium hyposulfite
  • Sodium oxide sulfide (Na2S2O3)
  • Sodium thiosulfate
genes like me logo Genes that share compounds with UMPS: view

Transcripts for UMPS Gene

Unigene Clusters for UMPS Gene

Uridine monophosphate synthetase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UMPS Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
SP1: - - -
SP2: -
SP4: -
SP5: - - -

Relevant External Links for UMPS Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for UMPS Gene

mRNA expression in normal human tissues for UMPS Gene

Protein differential expression in normal tissues from HIPED for UMPS Gene

This gene is overexpressed in Tonsil (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UMPS Gene

SOURCE GeneReport for Unigene cluster for UMPS Gene Hs.2057

genes like me logo Genes that share expression patterns with UMPS: view

Protein tissue co-expression partners for UMPS Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UMPS Gene

Orthologs for UMPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UMPS Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia UMPS 35
  • 86.87 (n)
  • 84.37 (a)
  • 84 (a)
(Canis familiaris)
Mammalia UMPS 35
  • 90.62 (n)
  • 92.11 (a)
  • 92 (a)
(Mus musculus)
Mammalia Umps 35
  • 83.54 (n)
  • 88.75 (a)
Umps 16
Umps 36
  • 89 (a)
(Pan troglodytes)
Mammalia UMPS 35
  • 99.17 (n)
  • 98.54 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Umps 35
  • 84.51 (n)
  • 90 (a)
(Monodelphis domestica)
Mammalia UMPS 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia UMPS 36
  • 74 (a)
(Gallus gallus)
Aves UMPS 35
  • 73.31 (n)
  • 74.84 (a)
  • 75 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
-- 36
  • 71 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia umps 35
  • 67.55 (n)
  • 71.52 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15949 35
(Danio rerio)
Actinopterygii umps 35
  • 62.85 (n)
  • 64.33 (a)
zgc55723 35
umps 36
  • 63 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5453 35
fruit fly
(Drosophila melanogaster)
Insecta r-l 37
  • 46 (a)
r-l 35
  • 52.82 (n)
  • 48.39 (a)
r-l 36
  • 46 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004175 35
  • 54.62 (n)
  • 51.4 (a)
(Caenorhabditis elegans)
Secernentea R12E2.11 37
  • 46 (a)
R12E2.11 36
  • 39 (a)
umps-1 36
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA3 36
  • 49 (a)
URA3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54470 35
  • 57.46 (n)
  • 56.1 (a)
(Glycine max)
eudicotyledons Gma.5031 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6709 35
(Hordeum vulgare)
Liliopsida Hv.9017 35
(Oryza sativa)
Liliopsida Os.4468 35
Os01g0951200 35
  • 55.98 (n)
  • 54.27 (a)
(Triticum aestivum)
Liliopsida Ta.27185 35
(Zea mays)
Liliopsida Zm.6787 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9304 36
  • 52 (a)
Species with no ortholog for UMPS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UMPS Gene

Gene Tree for UMPS (if available)
Gene Tree for UMPS (if available)

Paralogs for UMPS Gene

No data available for Paralogs for UMPS Gene

Variants for UMPS Gene

Sequence variations from dbSNP and Humsavar for UMPS Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_006807 Orotic aciduria 1 (ORAC1)
VAR_006808 Orotic aciduria 1 (ORAC1)
rs1801019 - 124,737,895(+) TAATG(C/G)TTCTC nc-transcript-variant, reference, missense
VAR_006810 Orotic aciduria 1 (ORAC1)
VAR_020614 -

Structural Variations from Database of Genomic Variants (DGV) for UMPS Gene

Variant ID Type Subtype PubMed ID
nsv877402 CNV Gain 21882294
nsv877403 CNV Loss 21882294

Variation tolerance for UMPS Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.38; 71.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UMPS Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UMPS Gene

Disorders for UMPS Gene

MalaCards: The human disease database

(7) MalaCards diseases for UMPS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
orotic aciduria
  • orotic aciduria type 1
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
colorectal cancer 5
  • colorectal cancer, susceptibility to, 5
stomach cancer
  • ca body - stomach
adenine phosphoribosyltransferase deficiency
  • 2,8-dihydroxyadenine urolithiasis
- elite association - COSMIC cancer census association via MalaCards
Search UMPS in MalaCards View complete list of genes associated with diseases


  • Orotic aciduria 1 (ORAC1) [MIM:258900]: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. {ECO:0000269 PubMed:9042911}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for UMPS Gene

orotic aciduria I (O5D & OPT deficiency)

Relevant External Links for UMPS

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with UMPS: view

Publications for UMPS Gene

  1. The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer. (PMID: 16328050) Kitajima M. … Ochiai T. (Oncol. Rep. 2006) 3 23 48 67
  2. Overexpression of orotate phosphoribosyl transferase in hormone-refractory prostate cancer. (PMID: 19082440) Tanaka T. … Nakatani T. (Oncol. Rep. 2009) 3 23
  3. High orotate phosphoribosyltransferase gene expression predicts complete response to chemoradiotherapy in patients with squamous cell carcinoma of the esophagus. (PMID: 19307741) Kajiwara T. … Onji M. (Oncology 2009) 3 23
  4. Microdissection is essential for gene expression analysis of irradiated rectal cancer tissues. (PMID: 19724871) Inoue Y. … Kusunoki M. (Oncol. Rep. 2009) 3 23
  5. Expression of the fluoropyrimidine-metabolizing enzymes in bladder cancers as measured by the Danenberg tumor profile. (PMID: 20112501) Naoe M. … Ota H. (Oncol. Res. 2009) 3 23

Products for UMPS Gene

Sources for UMPS Gene