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Aliases for UMPS Gene

Aliases for UMPS Gene

  • Uridine Monophosphate Synthetase 2 3
  • 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 Metabolism and Purine 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

Genomic Location for UMPS Gene

Chromosome:
3
Start:
124,730,366 bp from pter
End:
124,749,273 bp from pter
Size:
18,908 bases
Orientation:
Plus strand

Genomic View for UMPS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P11172-UMPS_HUMAN
    Recommended name:
    Uridine 5-monophosphate synthase
    Protein Accession:
    P11172
    Secondary Accessions:
    • B5LY68
    • B5LY72
    • O00758
    • O00759
    • O00760
    • Q16862
    • Q9H3Q2
    • Q9UG49

    Protein attributes for UMPS Gene

    Size:
    480 amino acids
    Molecular mass:
    52222 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for UMPS Gene

Domains & Families for UMPS Gene

Graphical View of Domain Structure for InterPro Entry

P11172

UniProtKB/Swiss-Prot:

UMPS_HUMAN :
  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.
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)

Gene Ontology (GO) - Molecular Function for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004588 orotate phosphoribosyltransferase activity TAS --
GO:0004590 orotidine-5-phosphate decarboxylase activity TAS --
GO:0016740 transferase activity --
genes like me logo Genes that share ontologies with UMPS: view
genes like me logo Genes that share phenotypes with UMPS: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UMPS

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UMPS Gene

Localization for UMPS Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UMPS Gene COMPARTMENTS Subcellular localization image for UMPS gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UMPS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15890648
GO:0005737 cytoplasm IDA 15890648
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UMPS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006207 de novo pyrimidine nucleobase biosynthetic process IEA --
GO:0006221 pyrimidine nucleotide biosynthetic process --
GO:0006222 UMP biosynthetic process IDA 6893554
GO:0007565 female pregnancy 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: HMDB, NovoSeek, DrugBank, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1937
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1179
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1792
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 1800
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1013

(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
124-38-9
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
2149-82-8
thiosulfate
  • Hyposulfite
  • S-Hydril
  • Sodium hyposulfite
  • Sodium oxide sulfide (Na2S2O3)
  • Sodium thiosulfate
14383-50-7
5-Chloro-2,4-dihydroxypyridine
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for UMPS

Flow Cytometry Products

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: -
SP3:
SP4: -
SP5: - - -

Relevant External Links for UMPS Gene

GeneLoc Exon Structure for
UMPS
ECgene alternative splicing isoforms for
UMPS

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia UMPS 35
  • 86.87 (n)
  • 84.37 (a)
UMPS 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UMPS 35
  • 90.62 (n)
  • 92.11 (a)
UMPS 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Umps 35
  • 83.54 (n)
  • 88.75 (a)
Umps 16
Umps 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UMPS 35
  • 99.17 (n)
  • 98.54 (a)
UMPS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Umps 35
  • 84.51 (n)
  • 90 (a)
oppossum
(Monodelphis domestica)
Mammalia UMPS 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UMPS 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves UMPS 35
  • 73.31 (n)
  • 74.84 (a)
UMPS 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 70 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia umps 35
  • 67.55 (n)
  • 71.52 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15949 35
zebrafish
(Danio rerio)
Actinopterygii umps 35
  • 62.85 (n)
  • 64.33 (a)
zgc55723 35
umps 36
  • 63 (a)
OneToOne
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)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004175 35
  • 54.62 (n)
  • 51.4 (a)
worm
(Caenorhabditis elegans)
Secernentea R12E2.11 37
  • 46 (a)
R12E2.11 36
  • 39 (a)
OneToMany
umps-1 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA3 36
  • 49 (a)
OneToOne
URA3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54470 35
  • 57.46 (n)
  • 56.1 (a)
soybean
(Glycine max)
eudicotyledons Gma.5031 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6709 35
barley
(Hordeum vulgare)
Liliopsida Hv.9017 35
rice
(Oryza sativa)
Liliopsida Os.4468 35
Os01g0951200 35
  • 55.98 (n)
  • 54.27 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27185 35
corn
(Zea mays)
Liliopsida Zm.6787 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9304 36
  • 52 (a)
OneToOne
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

ENSEMBL:
Gene Tree for UMPS (if available)
TreeFam:
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 MAF
rs13146 -- 124,743,961(+) ATTGG(C/T)AAACG reference, synonymous-codon, nc-transcript-variant
rs591886 -- 124,748,570(-) AGGAG(C/T)CCTCT utr-variant-3-prime, nc-transcript-variant
rs591896 -- 124,748,569(-) GGAGC(A/C)CTCTG utr-variant-3-prime, nc-transcript-variant
rs591963 -- 124,748,514(-) GGCTA(A/G)GCAAA utr-variant-3-prime, nc-transcript-variant
rs593292 -- 124,748,222(-) CCGGG(A/C)GCAGT utr-variant-3-prime, nc-transcript-variant

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: 69.68% 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

HapMap Linkage Disequilibrium report
UMPS
Human Gene Mutation Database (HGMD)
UMPS

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

Disorders for UMPS Gene

MalaCards: The human disease database

(5) 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
megaloblastic anemia
  • recessive hereditary megaloblastic anemia 1
stomach cancer
  • malignant tumor of greater curve of stomach
colorectal cancer
  • colorectal cancer, somatic
- elite association
Search UMPS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

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

Publications for UMPS Gene

  1. Impacts of fluorouracil-metabolizing enzymes on the outcomes of patients treated with S-1 alone or S-1 plus cisplatin for first-line treatment of advanced gastric cancer. (PMID: 19588501) Koizumi W. … Katada C. (Int. J. Cancer 2010) 23 67
  2. Evaluation of 5-fluorouracil related genes in breast cancer to predict the effect of adjuvant therapy with oral fluorouracil derivatives. (PMID: 20127019) Tsunoda Y. … Kusano M. (Oncol. Rep. 2010) 23 67
  3. [Therapeutic outcome and prognosis in S-1+CDDP chemotherapy for advanced gastric cancer--postoperative histopathological assessment]. (PMID: 20332681) Tanemura H. … Yamada T. (Gan To Kagaku Ryoho 2010) 23 67
  4. Correlations of clinicopathological factors with protein expression levels of thymidylate synthase, dihydropyrimidine dehydrogenase and orotate phosphoribosyltransferase in colorectal cancer. (PMID: 20407238) Sumi T. … Aoki T. (Chemotherapy 2010) 23 67
  5. Structure of orotate phosphoribosyltransferase from the caries pathogen Streptococcus mutans. (PMID: 20445243) Liu C.P. … Dong Y.H. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2010) 23 67

Products for UMPS Gene

Sources for UMPS Gene

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