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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UMPS Gene

protein-coding   GIFtS: 69
GCID: GC03P124449

Uridine Monophosphate Synthetase

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Uridine Monophosphate Synthetase1 2     OPRTase2
UMP Synthase2 3     Orotate Phosphoribosyltransferase2
Orotate Phosphoribosyl Transferase And Orotidine-5'-Decarboxylase1     Orotidine 5'-Phosphate Decarboxylase2
OMPdecase2     Uridine 5'-Monophosphate Synthase2
OPRT2     

External Ids:    HGNC: 125631   Entrez Gene: 73722   Ensembl: ENSG000001144917   OMIM: 6138915   UniProtKB: P111723   
ORGUL members:         
NONCODE14:n409262      

Export aliases for UMPS gene to outside databases

Previous GC identifers: GC03P121158 GC03P124466 GC03P125731 GC03P125770 GC03P125931 GC03P121823


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with UMPS include orotic aciduria, and orotic aciduria type 1, and among its related super-pathways are Fluoropyrimidine Pathway, Pharmacokinetics and Metabolic pathways. GO annotations related to this gene include orotidine-5'-phosphate decarboxylase activity and orotate phosphoribosyltransferase activity.

Gene Wiki entry for UMPS (Uridine monophosphate synthetase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UMPS gene promoter:
         ER-alpha   AML1a   HTF   AREB6   E2F   E2F-1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUMPS promoter sequence
   Search SABiosciences Chromatin IP Primers for UMPS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UMPS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13   Ensembl cytogenetic band:  3q21.2   HGNC cytogenetic band: 3q13

UMPS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UMPS gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P124449:  view genomic region     (about GC identifiers)

Start:
124,449,213 bp from pter      End:
124,468,120 bp from pter
Size:
18,908 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172 (See protein sequence)
Recommended Name: Uridine 5'-monophosphate synthase  
Size: 480 amino acids; 52222 Da
Subunit: Homodimer
Sequence caution: Sequence=CAB45710.3; Type=Erroneous termination; Positions=430; Note=Translated as Gln;
6/38 PDB 3D structures from and Proteopedia for UMPS (see all 38):
2EAW (3D)        2JGY (3D)        2P1F (3D)        2QCC (3D)        2QCD (3D)        2QCE (3D)    
Secondary accessions: B5LY68 B5LY72 O00758 O00759 O00760 Q16862 Q9H3Q2 Q9UG49
Alternative splicing: 4 isoforms:  P11172-1   P11172-2   P11172-3   P11172-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UMPS: NX_P11172

Explore proteomics data for UMPS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11172

  • UMPS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UMPS Protein Expression
    REFSEQ proteins: NP_000364.1  
    ENSEMBL proteins: 
     ENSP00000232607   ENSP00000417893   ENSP00000419618   ENSP00000420348   ENSP00000419121  
     ENSP00000420409   ENSP00000420754   ENSP00000443577   ENSP00000444988   ENSP00000397965  
    Reactome Protein details: P11172
    Human Recombinant Protein Products for UMPS: 
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for UMPS
    Cloud-Clone Corp. Proteins for UMPS 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15890648
    GO:0005737cytoplasm IDA15890648
    GO:0005829cytosol TAS--

    UMPS for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR013785 Aldolase_TIM
     IPR023031 OPRT
     IPR014732 OMPdecase
     IPR018089 OMPdecase_AS
     IPR011060 RibuloseP-bd_barrel

    Graphical View of Domain Structure for InterPro Entry P11172

    ProtoNet protein and cluster: P11172

    2 Blocks protein domains:
    IPB001754 Orotidine 5'-phosphate decarboxylase
    IPB002375 Purine/pyrimidine phosphoribosyl transferase


    UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172
    Similarity: In the N-terminal section; belongs to the purine/pyrimidine phosphoribosyltransferase family
    Similarity: In the C-terminal section; belongs to the OMP decarboxylase family


    UMPS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UMPS_HUMAN, P11172
    Catalytic activity: Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate
    Catalytic activity: Orotidine 5'-phosphate = UMP + CO(2)

         Genatlas biochemistry entry for UMPS:
    uridine monophosphate synthase,pyrimidine de novo biosynthesis (see ODC,OPRT)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004588orotate phosphoribosyltransferase activity TAS--
    GO:0004590orotidine-5'-phosphate decarboxylase activity TAS--
    GO:0016740transferase activity ----
         
    UMPS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UMPS:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UMPS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UMPS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMPS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMPS 

    miRNA
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    miRTarBase miRNAs that target UMPS:
    hsa-mir-197 (MIRT004213)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UMPS
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate UMPS:
    hsa-miR-21* hsa-miR-141* hsa-miR-3199 hsa-miR-1197 hsa-miR-3065-3p hsa-miR-3190 hsa-miR-7 hsa-miR-1912
    SwitchGear 3'UTR luciferase reporter plasmidUMPS 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UMPS About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fluoropyrimidine Activity
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Pyrimidine biosynthesis
    Pyrimidine biosynthesis0.33
    UMP biosynthesis0.33
    4superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli)
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.86
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.71
    5Pyrimidine metabolism
    Pyrimidine metabolism0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for UMPS
        Fluoropyrimidine Activity
    superpathway of pyrimidine ribonucleotides de novo biosynthesis
    UMP biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis

    4        Reactome Pathways for UMPS
        Metabolism of nucleotides
    Metabolism
    Pyrimidine metabolism
    Pyrimidine biosynthesis

    1 PharmGKB Pathway for UMPS
        Fluoropyrimidine Pathway, Pharmacokinetics

    3         Kegg Pathways  (Kegg details for UMPS):
        Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172
    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


    UMPS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UMPS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/621 Interacting proteins for UMPS (P111722, 3 ENSP000002326074) via UniProtKB, MINT, STRING, and/or I2D (see all 621)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42EP3Q9UKI22, 3, ENSP000002953244MINT-63458 I2D: score=5 STRING: ENSP00000295324
    CASP4P496623, ENSP000003885664I2D: score=1 STRING: ENSP00000388566
    CDC5LQ994592, ENSP000003605324MINT-7947479 STRING: ENSP00000360532
    DLSTP369573, ENSP000003353044I2D: score=3 STRING: ENSP00000335304
    PAXIP1Q6ZW493, ENSP000003840484I2D: score=1 STRING: ENSP00000384048
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006207'de novo' pyrimidine nucleobase biosynthetic process IEA--
    GO:0006221pyrimidine nucleotide biosynthetic process ----
    GO:0006222UMP biosynthetic process IDA11730338
    GO:0007565female pregnancy IEA--

    UMPS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UMPS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UMPS

    9 HMDB Compounds for UMPS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Orotic aciduracil-6-carboxylate (see all 32)65-86-1--
    Orotidine6-Carboxyuridine (see all 3)314-50-1--
    Orotidylic acid5'-OMP (see all 23)2149-82-8--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    ThiosulfateHyposulfite (see all 14)14383-50-7--
    Uridine 5'-monophosphate5'-UMP (see all 12)58-97-9--

    2 DrugBank Compounds for UMPS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-Hydroxyuridine-5'-Phosphate-- --target--17139284 17016423 10592235
    Fluorouracil5-Fluorouracil (see all 6)51-21-8enzymesubstrate--

    10/27 Novoseek inferred chemical compound relationships for UMPS gene (see all 27)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    orotic acid 98 216 2085181 (4), 8312245 (3), 16044965 (3), 11730338 (3) (see all 98)
    orotidine 5'-monophosphate 93.5 58 11730338 (3), 8312245 (2), 15683248 (2), 15147974 (2) (see all 21)
    thymidylate 92 109 20407238 (2), 11915731 (2), 12720098 (2), 17192711 (2) (see all 64)
    5fluorouracil 86.4 251 17854773 (7), 14770427 (6), 14713770 (6), 16328050 (4) (see all 69)
    poly u 82.7 48 7662663 (6), 8182184 (4), 9042911 (3), 15147974 (2) (see all 14)
    uridine 82 46 17192711 (2), 2162241 (1), 10736423 (1), 10969598 (1) (see all 24)
    fump 80.1 4 8645024 (2), 10927027 (1)
    dihydrouracil 80 7 16584912 (1), 8216379 (1), 8277507 (1), 10927027 (1) (see all 5)
    prpp 79.2 12 7685580 (2), 8312245 (1), 2142214 (1), 9890908 (1) (see all 6)
    thymidine 77.1 92 17192711 (2), 17637543 (2), 2162241 (1), 10736423 (1) (see all 52)

    3 PharmGKB related drug/compound annotations for UMPS gene    About this table
    Drug/compound PharmGKB Annotation
    fluorouracilCA  
    leucovorinCA  
    tegafurCA  

    Search CenterWatch for drugs/clinical trials and news about UMPS

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UMPS gene: 
    NM_000373.3  

    Unigene Cluster for UMPS:

    Uridine monophosphate synthetase
    Hs.2057  [show with all ESTs]
    Unigene Representative Sequence: NR_033437
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232607(uc011bkb.2 uc003ehl.4 uc003ehn.4 uc003ehm.4 uc011bka.2 uc011bkc.2 uc011bkd.2)
    ENST00000462091 ENST00000467167 ENST00000474588 ENST00000497791 ENST00000460034
    ENST00000479719 ENST00000498715 ENST00000487622 ENST00000495751 ENST00000536109
    ENST00000538242 ENST00000413078
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate UMPS:
    hsa-miR-21* hsa-miR-141* hsa-miR-3199 hsa-miR-1197 hsa-miR-3065-3p hsa-miR-3190 hsa-miR-7 hsa-miR-1912
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    GenScript: all cDNA clones in your preferred vector: UMPS (NM_000373)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMPS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMPS
    Sirion Biotech Customized lentivirus for stable overexpression of UMPS 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UMPS

    Additional mRNA sequence: 

    AB062285.1 AK291306.1 AL080099.2 BC000364.2 BC007511.2 CR456787.1 D86227.1 D86228.1 
    D86230.1 J03626.1 M36661.1 NR_033434.1 NR_033437.1 

    15 DOTS entries:

    DT.446579  DT.97826849  DT.95303887  DT.100821991  DT.100822007  DT.100821994  DT.91725814  DT.100821997 
    DT.99956399  DT.95303886  DT.95303936  DT.100821995  DT.86852957  DT.95303884  DT.95303885 

    24/283 AceView cDNA sequences (see all 283):

    CR614357 BI089070 AL561431 AA284909 CB130014 BG025364 AU102452 AI754242 
    D86230 BX345093 AI597621 AL559482 AA130583 BQ642905 CR597849 BX460227 
    CR601942 AA346664 CR590318 CR604719 AA872696 BX366051 AL528487 AA166991 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UMPS    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
    SP1:                    -                       -                       -               
    SP2:                                                                    -               
    SP3:                                                                                    
    SP4:                                            -                                       
    SP5:                    -     -                 -                                       


    ECgene alternative splicing isoforms for UMPS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UMPS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTTTAGGA
    UMPS Expression
    About this image


    See UMPS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UMPS

    SOURCE GeneReport for Unigene cluster: Hs.2057
        SABiosciences Custom PCR Arrays for UMPS
    Primer
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UMPS gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umps1 , 5 uridine monophosphate synthetase1, 5 83.54(n)1
    88.75(a)1
      16 (24.26 cM)5
    222471  NM_009471.21  NP_033497.11 
     339547825 
    chicken
    (Gallus gallus)
    Aves UMPS1 uridine monophosphate synthetase 73.31(n)
    74.84(a)
      424256  NM_001031260.1  NP_001026431.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    70(a)
    70(a)
    many → 1
    many → 1
    1(78230900-78241092)
    GL344627.1(16557-26907)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.159492 Xenopus laevis transcribed sequence with weak similarity to protein spP11172 (H.sapiens) PYR5_HUMAN Uridine 5'-monophosphate synthase (UMP synthase) [Includes Orotate phosphoribosyltransferase (OPRtase); Orotidine 5'-phosphate decarboxylase (OMPdecase) less 73.52(n)    BX848302.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557232 hypothetical protein MGC55723 70.96(n)   393143  BC045440.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta r-l1 , 3 'de novo' pyrimidine base biosynthesis
    orotate phosphoribosyltransferase less3
    rudimentary-like1
    46(a)3
    52.82(n)1
    48.39(a)1
      3 93B103
    424931  NM_079703.21  NP_524427.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R12E2.113 purine/pyrimidine phosphoribosyl
    transferase
    46(a)   I(4172733-4173730)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA3(YEL021W)4
    URA31
    Orotidine-5'-phosphate (OMP) decarboxylase, catalyzes the sixth enzymatic step in the de novo biosynthesis of pyrimidines, converting OMP into uridine monophosphate (UMP); converts 5-FOA into 5-fluorouracil, a toxic compound less4
    Ura3p1
    56.71(n)1
    53.53(a)1
      5(116167-116970)4
    8566921, 4  NP_010893.31  NP_010893.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G544701 orotidine 5'-phosphate decarboxylase 57.46(n)
    56.1(a)
      824612  NM_148875.4  NP_680130.1 
    rice
    (Oryza sativa)
    Liliopsida Os.44682 Oryza sativa (japonica cultivar-group) mRNA for UMP synthase 1, complete cds less 75.14(n)    AF210323.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/494 SNPs in UMPS are shown (see all 494)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0068104
    Orotic aciduria 1 (ORAC1)4--see VAR_0068102 G R mis40--------
    VAR_0068084
    Orotic aciduria 1 (ORAC1)4--see VAR_0068082 V G mis40--------
    VAR_0068074
    Orotic aciduria 1 (ORAC1)4--see VAR_0068072 R G mis40--------
    rs1219178921,2
    Cpathogenic1124456430(+) TCTTGG/TAGAAG 4 G V mis10--------
    VAR_0206144
    ----see VAR_0206142 S G mis40--------
    rs567368481,2
    C,F--124447278(+) TAGGCC/ATGTGC 3 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1502577331,2
    --124447341(+) GTTGAC/TTGGGC 3 -- us2k10--------
    rs1930652161,2
    --124447432(+) CTCAGC/GTCTAC 3 -- us2k10--------
    rs1151568651,2
    F--124447475(+) TCTTAT/CTGAAT 3 -- us2k11Minor allele frequency- C:0.01WA 118
    rs341702031,2
    C--124447525(+) TTTTTT/-GAGCG 3 -- us2k11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for UMPS (124449213 - 124468120 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UMPS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv877403CNV Loss21882294
    nsv877402CNV Gain21882294


    Human Gene Mutation Database (HGMD): UMPS
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing UMPS
    DNA2.0 Custom Variant and Variant Library Synthesis for UMPS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613891    OMIM disorders: --

    UniProtKB/Swiss-Prot: UMPS_HUMAN, P11172
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/31 diseases for UMPS (see all 31):    About MalaCards
    orotic aciduria    orotic aciduria type 1    megaloblastic anemia    oral squamous cell carcinoma
    gastric cancer    neutropenia    stomach cancer    malaria
    colorectal cancer    bladder carcinoma    colon cancer    esophagitis
    esophageal adenocarcinoma    esophageal cancer    pancreatic cancer    pancreatitis
    squamous cell carcinoma    pneumonia    anemia    renal cell carcinoma

    2 diseases from the University of Copenhagen DISEASES database for UMPS:
    Colorectal cancer     Carcinoma

    UMPS for disorders           About GeneDecksing

    10/26 Novoseek inferred disease relationships for UMPS gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    orotic aciduria hereditary 81.5 1 10851269 (1)
    orotic aciduria 69.3 1 9042911 (1)
    metastatic gastric cancer 67.2 1 16952032 (1)
    colorectal cancer 62.6 34 20407238 (2), 15272584 (2), 11383215 (2), 15968317 (2) (see all 23)
    gastric cancer 61.9 27 16142362 (3), 16044965 (2), 17089033 (2), 17237621 (2) (see all 11)
    gastric carcinoma 57 58 18095079 (7), 16912530 (6), 16612158 (5), 11265402 (4) (see all 9)
    colorectal carcinoma 45.1 10 18949394 (2), 12720098 (2), 18383874 (1), 18630501 (1) (see all 5)
    tumors 42.7 97 16142362 (5), 11265402 (4), 17854773 (4), 16788943 (4) (see all 36)
    colorectal tumors 40.9 5 12506474 (1), 16477629 (1), 17454858 (1)
    cancer 39.6 43 16044965 (3), 16734727 (3), 12720098 (2), 14713770 (2) (see all 23)

    Genatlas disease: UMPS
    orotic aciduria I (O5D & OPT deficiency)

    Genetic Association Database (GAD): UMPS
    Human Genome Epidemiology (HuGE) Navigator: UMPS (6 documents)

    Export disorders for UMPS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UMPS gene, integrated from 9 sources (see all 208):
    (articles sorted by number of sources associating them with UMPS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The relationship between 5-fluorouracil sensitivity and single nucleotide polymorphisms of the orotate phosphoribosyl transferase gene in colorectal cancer. (PubMed id 16328050)1, 4, 9 Kitajima M....Ochiai T. (2006)
    2. Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families. (PubMed id 9042911)1, 2, 9 Suchi M.... Wada Y. (1997)
    3. Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design. (PubMed id 18184586)1, 2, 9 Wittmann J.G....Rudolph M.G. (2008)
    4. Pharmacogenetic Analyses of a Phase III Trial in Metastatic Gastroesophageal Adenocarcinoma With Fluorouracil and Leucovorin Plus Either Oxaliplatin or Cisplatin: A Study of the Arbeitsgemeinschaft Internistische Onkologie. (PubMed id 19332728)1, 4, 9 Goekkurt E....Stoehlmacher J. (2009)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    6. Value of gene polymorphisms as markers of 5-FU therap y response in stage III colon carcinoma: a pilot study. (PubMed id 20665215)1, 4 FariA+a-Sarasqueta A....van den Brule A.J. (2010)
    7. Pharmacogenetic analyses of hematotoxicity in advanced gastric cancer patients receiving biweekly fluorouracil, leucovorin, oxaliplatin and docetaxel (FLOT): a translational study of the Arbeitsgemeinschaft Internistische Onkologie (AIO). (PubMed id 19074750)1, 4 Goekkurt E....Stoehlmacher J. (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Localization of the gene for uridine monophosphate synthase to human chromosome region 3q13 by in situ hybridization. (PubMed id 2767686)1, 3 Qumsiyeh M.B....Suttle D.P. (1989)
    10. Molecular cloning of human UMP synthase. (PubMed id 2624233)1, 2 Suchi M....Takagi Y. (1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7372 HGNC: 12563 AceView: UMPS Ensembl:ENSG00000114491 euGenes: HUgn7372
    ECgene: UMPS Kegg: 7372 H-InvDB: UMPS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UMPS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/UMPS
    NIEHS-SNPshttp://egp.gs.washington.edu/data/umps/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UMPS gene:
    Search GeneIP for patents involving UMPS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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