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Aliases for UMPS Gene

Aliases for UMPS Gene

  • Uridine Monophosphate Synthetase 2 3
  • UMP Synthase 3 4
  • OPRT 3 6
  • Orotate Phosphoribosyl Transferase And Orotidine-5-Decarboxylase 2
  • Orotidine 5-Phosphate Decarboxylase 3
  • Orotate Phosphoribosyltransferase 3
  • Uridine 5-Monophosphate Synthase 3
  • OMPdecase 3
  • OPRTase 3

External Ids for UMPS Gene

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 malaria. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include orotate phosphoribosyltransferase 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

Genomic Location for UMPS Gene

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

Regulatory Elements 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

Other Protein References for UMPS Gene

No data available for DME Specific Peptides for UMPS Gene

Domains for UMPS Gene

UniProtKB/Swiss-Prot:

UMPS_HUMAN
Family:
  • In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family.:
    • P11172
  • In the C-terminal section; belongs to the OMP decarboxylase family.:
    • P11172
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

Phenotypes for UMPS Gene

GenomeRNAi human phenotypes for UMPS:
genes like me logo Genes that share phenotypes with UMPS: view

miRNA for UMPS Gene

miRTarBase miRNAs that target UMPS

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
lysosome 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

Pathways 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 11730338
GO:0007565 female pregnancy IEA --
genes like me logo Genes that share ontologies with UMPS: view

Compounds for UMPS Gene

(9) HMDB Compounds for UMPS Gene

Compound Synonyms Cas Number PubMed IDs
Carbon dioxide
  • Carbon oxide
124-38-9
Orotic acid
  • uracil-6-carboxylate
65-86-1
Orotidine
  • 6-Carboxyuridine
314-50-1
Orotidylic acid
  • 5'-OMP
2149-82-8
Phosphoribosyl pyrophosphate
  • 5-Phospho-a-D-ribose-1-diphosphate
7540-64-9

(2) Drugbank Compounds for UMPS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
6-Hydroxyuridine-5'-Phosphate
target
Fluorouracil
  • 5-Fluorouracil
51-21-8 enzyme substrate

(27) Novoseek inferred chemical compound relationships for UMPS Gene

Compound -log(P) Hits PubMed IDs
orotic acid 98 131
orotidine 5-monophosphate 93.5 29
thymidylate 92 71
5fluorouracil 86.4 133
poly u 82.7 27

(3) PharmGKB related drug/compound annotations for UMPS Gene

Drug/compound Annotation
fluorouracil CA
leucovorin CA
tegafur CA
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: -
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with UMPS: view

Orthologs for UMPS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UMPS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UMPS 36
  • 99.17 (n)
  • 98.54 (a)
UMPS 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UMPS 36
  • 86.87 (n)
  • 84.37 (a)
UMPS 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UMPS 36
  • 90.62 (n)
  • 92.11 (a)
UMPS 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Umps 36
  • 83.54 (n)
  • 88.75 (a)
Umps 16
Umps 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UMPS 37
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UMPS 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Umps 36
  • 84.51 (n)
  • 90 (a)
chicken
(Gallus gallus)
Aves UMPS 36
  • 73.31 (n)
  • 74.84 (a)
UMPS 37
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 70 (a)
OneToMany
-- 37
  • 71 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.15949 36
tropical clawed frog
(Silurana tropicalis)
Amphibia umps 36
  • 67.55 (n)
  • 71.52 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5453 36
zebrafish
(Danio rerio)
Actinopterygii umps 36
  • 62.85 (n)
  • 64.33 (a)
umps 37
  • 63 (a)
OneToOne
zgc55723 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004175 36
  • 54.62 (n)
  • 51.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta r-l 36
  • 52.82 (n)
  • 48.39 (a)
r-l 37
  • 46 (a)
OneToOne
r-l 38
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea R12E2.11 37
  • 39 (a)
OneToMany
umps-1 37
  • 36 (a)
OneToMany
R12E2.11 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA3 37
  • 49 (a)
OneToOne
URA3 39
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6709 36
soybean
(Glycine max)
eudicotyledons Gma.5031 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54470 36
  • 57.46 (n)
  • 56.1 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.9017 36
corn
(Zea mays)
Liliopsida Zm.6787 36
rice
(Oryza sativa)
Liliopsida Os.4468 36
Os01g0951200 36
  • 55.98 (n)
  • 54.27 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.27185 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9304 37
  • 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

Relevant External Links for UMPS Gene

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

Disorders for UMPS Gene

(1) OMIM Diseases for UMPS Gene (613891)

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.

(2) University of Copenhagen DISEASES for UMPS Gene

(26) Novoseek inferred disease relationships for UMPS Gene

Disease -log(P) Hits PubMed IDs
orotic aciduria hereditary 81.5 1
orotic aciduria 69.3 1
metastatic gastric cancer 67.2 1
colorectal cancer 62.6 29
gastric cancer 61.9 17

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

Publications for UMPS Gene

  1. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (PMID: 9042911) Suchi M. … Wada Y. (Am. J. Hum. Genet. 1997) 3 4 23
  2. 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 49
  3. Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. (PMID: 18184586) Wittmann J.G. … Rudolph M.G. (Structure 2008) 3 4 23
  4. Orotate phosphoribosyltransferase expression level in tumors is a potential determinant of the efficacy of 5-fluorouracil. (PMID: 17854773) Sakamoto E. … Oka T. (Biochem. Biophys. Res. Commun. 2007) 3 23
  5. Clinical implications of thymidylate synthetase, dihydropyrimidine dehydrogenase and orotate phosphoribosyl transferase activity levels in colorectal carcinoma following radical resection and administration of adjuvant 5-FU chemotherapy. (PMID: 18597678) Ishikawa M. … Kashiwagi Y. (BMC Cancer 2008) 3 23

Products for UMPS Gene

Sources for UMPS Gene

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