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UMPS Gene

protein-coding   GIFtS: 68
GCID: GC03P124449

Uridine Monophosphate Synthetase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Uridine Monophosphate Synthetase1 2     OPRTase2
UMP Synthase2 3     Orotate Phosphoribosyltransferase2
OPRT2 5     Orotidine 5'-Phosphate Decarboxylase2
Orotate Phosphoribosyl Transferase And Orotidine-5'-Decarboxylase1     Uridine 5'-Monophosphate Synthase2
OMPdecase2     

External Ids:    HGNC: 125631   Entrez Gene: 73722   Ensembl: ENSG000001144917   OMIM: 6138915   UniProtKB: P111723   

Export aliases for UMPS gene to outside databases

Previous GC identifers: GC03P121158 GC03P124466 GC03P125731 GC03P125770 GC03P125931 GC03P121823


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 orotic aciduria type 1. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   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 Chromatin IP Primers for UMPS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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;
Selected 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UMPS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000364.1  
    ENSEMBL proteins: 
     ENSP00000232607   ENSP00000417893   ENSP00000419618   ENSP00000420348   ENSP00000419121  
     ENSP00000420409   ENSP00000420754   ENSP00000443577   ENSP00000444988   ENSP00000397965  
    Reactome Protein details: P11172

    UMPS Human Recombinant Protein Products:

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    Novus Biologicals UMPS Proteins
    Novus Biologicals UMPS Lysates
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    ProSpec Recombinant Protein for UMPS
    Cloud-Clone Corp. Proteins for UMPS

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    UMPS Assay Products:

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    Cloud-Clone Corp. ELISAs for UMPS
    Cloud-Clone Corp. CLIAs for UMPS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR013785 Aldolase_TIM
     IPR014732 OMPdecase
     IPR018089 OMPdecase_AS
     IPR011060 RibuloseP-bd_barrel
     IPR004467 Or_phspho_trans_dom

    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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: Let us create your new Knockout/Knockin mouse model for UMPS
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       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
    Products:
        
    miRTarBase miRNAs that target UMPS:
    hsa-mir-197-3p (MIRT004213), hsa-mir-124-3p (MIRT022649)

    Block miRNA regulation of human, mouse, rat UMPS using miScript Target Protectors
    8 qRT-PCR 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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    OriGene RNAi products in human, mouse, rat for UMPS
    Predesigned siRNA for gene silencing in human, mouse, rat UMPS

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for UMPS
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    GenScript: all cDNA clones in your preferred vector: UMPS (NM_000373)
    Sino Biological Human cDNA Clone for UMPS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMPS

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMPS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    UMPS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UMPS About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Pyrimidine biosynthesis0.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    UMP biosynthesis0.00
    Pyrimidine metabolism0.33
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.52
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.00
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    5Purine metabolism (KEGG)
    Pyrimidine metabolism0.38

    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


    1 Reactome Pathway for UMPS
        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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UMPS
    Interactions:

        Search GeneGlobe Interaction Network for UMPS

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

    Selected Interacting proteins for UMPS (P111722, 3 ENSP000002326074) via UniProtKB, MINT, STRING, and/or I2D (see all 682)

    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
    CCNB1P146352, ENSP000002564424MINT-7947479 STRING: ENSP00000256442
    GCN1L1Q926162, ENSP000003006484MINT-7947479 STRING: ENSP00000300648
    About this table

    Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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  



    UMPS for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    miRNA
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    8 qRT-PCR 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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    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
    Primer
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    OriGene qPCR primer pairs and template standards for UMPS
    OriGene qSTAR qPCR primer pairs in human, mouse for UMPS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMPS
      QuantiTect SYBR Green Assays in human, mouse, rat UMPS
      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 

    Selected AceView cDNA sequences (see all 283):

    AL559482 BX345093 CR608134 AU098363 CR624319 AA166990 CR597849 BM465045 
    AI597621 BG109876 BU686871 CA440952 BX460227 BQ926088 CB131183 BC007511 
    AW193123 BX366051 BG025364 CR618739 AA284909 AA284779 BU687676 CR614357 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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


    UMPS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
    UMPS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UMPS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2057
        Custom PCR Arrays for UMPS
    Primer
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    OriGene qPCR primer pairs and template standards for UMPS
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMPS

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UMPS gene from Selected species (see all 26)    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 --
    --
    Uncharacterized protein
    71(a)
    70(a)
    many → 1
    many → 1
    GL344627.1(16557-26907)
    1(78230900-78241092)
    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_079703.31  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 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 less   --   5(116167-116970) 856692  NP_010893.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G544701 AT3G54470 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)
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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UMPS (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--------
    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
    rs754181621,2
    C--124447525(+) TCATTC/TTTTTT 3 -- us2k11Minor allele frequency- T:0.50NA 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613891   
    OMIM disorders: 258900  
    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

  • Selected diseases for UMPS (see all 29):    
    About MalaCards
    orotic aciduria    orotic aciduria type 1    megaloblastic anemia    oral squamous cell carcinoma
    stomach cancer    neutropenia    colorectal cancer    malaria
    bladder carcinoma    esophagitis    esophageal cancer    pancreatic cancer
    squamous cell carcinoma    adenocarcinoma    renal cell carcinoma    pancreatitis
    pneumonia    mental retardation    hepatocellular carcinoma    tuberculosis

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

    UMPS for disorders           About GeneDecksing

    Selected 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)
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    PubMed articles for UMPS gene, integrated from 10 sources (see all 210):
    (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. (Oncol. Rep. 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. (Am. J. Hum. Genet. 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. (Structure 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. (J. Clin. Oncol. 2009)
    5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    6. Value of gene polymorphisms as markers of 5-FU therapy response in stage III colon carcinoma: a pilot study. (PubMed id 20665215)1, 4 FariA+a-Sarasqueta A....van den Brule A.J. (Cancer Chemother. Pharmacol. 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. (Ann. Oncol. 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. (Genome Res. 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. (Genomics 1989)
    10. Molecular cloning of human UMP synthase. (PubMed id 2624233)1, 2 Suchi M....Takagi Y. (Adv. Exp. Med. Biol. 1989)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7372 HGNC: 12563 AceView: UMPS Ensembl:ENSG00000114491 euGenes: HUgn7372
    ECgene: UMPS Kegg: 7372 H-InvDB: UMPS

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UMPS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=UMPS[genesymbol]
    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.)
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    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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