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UPP1 Gene

protein-coding   GIFtS: 60
GCID: GC07P048094

Uridine Phosphorylase 1

(Previous name: uridine phosphorylase)
(Previous symbol: UP)
  Search for UPP1
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 Phosphorylase 11 2     UDRPASE2
UP1 2 3 5     UPASE2
UrdPase 12 3     UPP2
UPase 12 3     EC 2.4.2.33
Uridine Phosphorylase1     

External Ids:    HGNC: 125761   Entrez Gene: 73782   Ensembl: ENSG000001836967   OMIM: 1917305   UniProtKB: Q168313   

Export aliases for UPP1 gene to outside databases

Previous GC identifers: GC07P047835 GC07P047869 GC07P047902 GC07P048013


(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 UPP1 Gene:
The 2 known types of pyrimidine nucleoside phosphorylases, uridine phosphorylase (UP; EC 2.4.2.3) and thymidine
phosphorylase (TP; EC 2.4.2.4), in the presence of orthophosphate, catalyze the reversible phosphorolysis of
uridine and thymidine or deoxyuridine, respectively, to free bases and ribose-1-phosphate or
deoxyribose-1-phosphate. Pyrimidine nucleoside phosphorylases can add ribose or deoxyribose to pyrimidine bases
to form nucleosides that can be incorporated into RNA or DNA (Watanabe and Uchida, 1995 (PubMed
7488099)).(supplied by OMIM, Aug 2009)

GeneCards Summary for UPP1 Gene:
UPP1 (uridine phosphorylase 1) is a protein-coding gene. GO annotations related to this gene include uridine phosphorylase activity. An important paralog of this gene is UPP2.

UniProtKB/Swiss-Prot: UPP1_HUMAN, Q16831
Function: Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or
deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue
of pyrimidine bases for nucleotide synthesis

Gene Wiki entry for UPP1 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_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the UPP1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): UPP1 promoter sequence
   Search Chromatin IP Primers for UPP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UPP1


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

Entrez Gene cytogenetic band: 7p12.3   Ensembl cytogenetic band:  7p12.3   HGNC cytogenetic band: 7p12.3

UPP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPP1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P048094:  view genomic region     (about GC identifiers)

Start:
48,128,225 bp from pter      End:
48,148,330 bp from pter
Size:
20,106 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 48,168,224-48,188,201     

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: UPP1_HUMAN, Q16831 (See protein sequence)
Recommended Name: Uridine phosphorylase 1  
Size: 310 amino acids; 33934 Da
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for UPP1:
3EUE (3D)        3EUF (3D)        3NBQ (3D)    
Secondary accessions: D3DVM4 Q15362
Alternative splicing: 2 isoforms:  Q16831-1   Q16831-2   (Inactive)

Explore the universe of human proteins at neXtProt for UPP1: NX_Q16831

Explore proteomics data for UPP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UPP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001274355.1  NP_001274357.1  NP_001274358.1  NP_001274359.1  NP_003355.1  

    ENSEMBL proteins: 
     ENSP00000405209   ENSP00000330032   ENSP00000387607   ENSP00000408899   ENSP00000414963  
     ENSP00000378931   ENSP00000390118   ENSP00000378927   ENSP00000396820   ENSP00000413611  
     ENSP00000342878   ENSP00000406224  
    Reactome Protein details: Q16831

    UPP1 Human Recombinant Protein Products:

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    Novus Biologicals UPP1 Proteins
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR018017 Nucleoside_phosphorylase
     IPR010059 Uridine_phosphorylase_euk
     IPR018016 Nucleoside_phosphorylase_CS
     IPR000845 Nucleoside_phosphorylase_d

    Graphical View of Domain Structure for InterPro Entry Q16831

    ProtoNet protein and cluster: Q16831

    1 Blocks protein domain: IPB000845 Purine and other phosphorylases

    UniProtKB/Swiss-Prot: UPP1_HUMAN, Q16831
    Similarity: Belongs to the PNP/UDP phosphorylase family


    Find genes that share domains with UPP1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UPP1_HUMAN, Q16831
    Function: Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or
    deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue
    of pyrimidine bases for nucleotide synthesis
    Catalytic activity: Uridine + phosphate = uracil + alpha-D-ribose 1-phosphate
    Induction: By vitamin D3 and a mixture of inflammatory cytokines: TNF, IL1/interleukin-1 and IFNG/IFN-gamma

         Enzyme Number (IUBMB): EC 2.4.2.31

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004850uridine phosphorylase activity IEA--
         
    Find genes that share ontologies with UPP1           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Upp1):
     behavior/neurological  cellular  homeostasis/metabolism  immune system  nervous system 
     renal/urinary system  skeleton 

    Find genes that share phenotypes with UPP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for UPP1: Upp1tm1Gp Upp1tm1Akiy

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UPP1
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    hsa-mir-215-5p (MIRT024540), hsa-mir-192-5p (MIRT026152)

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    Inhib. RNA
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    (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
    cytosol4
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with UPP1           About GenesLikeMe


    (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 UPP1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Pyrimidine salvage reactions0.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    Pyrimidine catabolism0.00
    Pyrimidine metabolism0.33
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine ribonucleosides degradation
    superpathway of pyrimidine ribonucleosides degradation0.60
    pyrimidine ribonucleosides degradation0.00
    pyrimidine deoxyribonucleosides degradation0.33
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    5Purine metabolism (KEGG)
    Pyrimidine metabolism0.38


    Find genes that share SuperPaths with UPP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for UPP1
        Fluoropyrimidine Activity
    pyrimidine ribonucleosides degradation
    pyrimidine deoxyribonucleosides degradation
    superpathway of pyrimidine ribonucleosides degradation

    2 Reactome Pathways for UPP1
        Pyrimidine catabolism
    Pyrimidine salvage reactions

    1 PharmGKB Pathway for UPP1
        Fluoropyrimidine Pathway, Pharmacokinetics

    3 Kegg Pathways  (Kegg details for UPP1):
        Pyrimidine metabolism
    Drug metabolism - other enzymes
    Metabolic pathways

    UniProtKB/Swiss-Prot: UPP1_HUMAN, Q16831
    Pathway: Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route):
    step 1/1

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UPP1
    Interactions:

        GeneGlobe Interaction Network for UPP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    Selected Interacting proteins for UPP1 (Q168313 ENSP000003300324) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086703, ENSP000002242374I2D: score=3 STRING: ENSP00000224237
    CDAENSP000003642124STRING: ENSP00000364212
    CYP2A13ENSP000003326794STRING: ENSP00000332679
    CYP2A6ENSP000003011414STRING: ENSP00000301141
    DPYDENSP000003592114STRING: ENSP00000359211
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process TAS7488099
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006220pyrimidine nucleotide metabolic process ----
    GO:0009116nucleoside metabolic process ----
    GO:0009166nucleotide catabolic process IEA--

    Find genes that share ontologies with UPP1           About GenesLikeMe



    (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 UPP1

    3 HMDB Compounds for UPP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Uracil2,4-Dihydroxypyrimidine (see all 8)66-22-8--
    Uridine1-b-D-Ribofuranosyl-2,4(1H,3H)-pyrimidinedione (see all 9)58-96-8--

    2 DrugBank Compounds for UPP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-((2-HYDROXYETHOXY)METHYL)-5-BENZYLPYRIMIDINE-2,4(1H,3H)-DIONE-- --target--10592235
    Fluorouracil5-Fluorouracil (see all 6)51-21-8enzymesubstrate16720348

    Selected Novoseek inferred chemical compound relationships for UPP1 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-benzylacyclouridine 94.9 4 19291308 (2), 15983408 (1)
    ribose 1-phosphate 93 8 15983408 (1), 20226755 (1), 16720348 (1), 15319798 (1) (see all 6)
    uridine 92.3 66 15319798 (4), 16798057 (4), 20226755 (3), 17098463 (3) (see all 32)
    orotic acid 79 5 18506536 (1), 14562021 (1), 16736497 (1), 10974411 (1) (see all 5)
    5'-deoxy-5-fluorouridine 77.6 13 17098463 (3), 19602572 (2), 15319798 (1), 16798057 (1)
    5fluorouracil 76.4 41 17214321 (3), 15319798 (3), 16798057 (3), 19304841 (2) (see all 16)
    thymidine 71 23 17098463 (2), 16798057 (2), 10969598 (1), 18506536 (1) (see all 20)
    deoxyuridine 70.4 2 19028666 (1), 9850074 (1)
    pyrimidine 68.7 7 19645718 (2), 15319798 (2), 20226755 (1), 19291308 (1) (see all 5)
    thymidylate 68.6 7 10969598 (1), 15911984 (1), 18506536 (1), 16736497 (1) (see all 7)



    Find genes that share compounds with UPP1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UPP1 gene (6 alternative transcripts): 
    NM_181597.1  NM_001287426.1  NM_001287428.1  NM_001287429.1  NM_001287430.1  NM_003364.3  

    Unigene Cluster for UPP1:

    Uridine phosphorylase 1
    Hs.488240  [show with all ESTs]
    Unigene Representative Sequence: BC007348
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416681 ENST00000331803(uc003tok.3 uc011kch.2 uc003ton.3)
    ENST00000432131 ENST00000457596 ENST00000421046(uc011kcg.1) ENST00000395564
    ENST00000436673 ENST00000395560 ENST00000444999 ENST00000482015 ENST00000417464
    ENST00000495446 ENST00000341253(uc003toj.3 uc003tol.3) ENST00000429491

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    Additional mRNA sequence: 

    AK297863.1 BC001405.1 BC007348.2 BC047030.1 BC053592.1 BT006699.1 X90858.1 

    20 DOTS entries:

    DT.315671  DT.95239905  DT.97855679  DT.65287835  DT.91773929  DT.100031446  DT.100827094  DT.97855676 
    DT.91773917  DT.121069226  DT.91863645  DT.100827107  DT.121069240  DT.100031445  DT.100827105  DT.100827106 
    DT.102832027  DT.75162875  DT.91773922  DT.97855677 

    Selected AceView cDNA sequences (see all 364):

    BU164258 BQ939919 BM830911 BQ691516 BU617124 AI825508 BM550827 BM773025 
    BE500980 BQ009460 BE673043 BM783808 AI685608 BQ000130 CK905155 BM999550 
    BQ045334 BQ686352 BQ690766 H95175 BQ687682 BF223073 BQ223135 BC047030 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for UPP1 (see all 20)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a ·
    SP1:                                                                                      -     -                                                     -     -   
    SP2:                                                                                      -                                                           -     -   
    SP3:                                            -     -                                   -                                                                     
    SP4:                                            -     -     -     -     -     -     -     -     -                                                     -     -   
    SP5:                                                                                      -                                         -                 -     -   

    ExUns: 10b · 10c · 10d ^ 11 ^ 12a · 12b · 12c · 12d
    SP1:                                                
    SP2:                                                
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for UPP1

    (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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    UPP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGCGCCT
    UPP1 Expression
    About this image


    UPP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Inner Cell Mass Cells Inner Cell Mass
             Line H9 (Naive)
     
     Eye (Sensory Organs)
             Lens
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Heart (Cardiovascular System)
             Primitive Heart Tube Cells Primitive Heart Tube
    UPP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UPP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.488240
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for UPP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upp11 , 5 uridine phosphorylase 11, 5 82.04(n)1
    79.35(a)1
      11 (6.13 cM)5
    222711  NM_001159401.11  NP_001152873.11 
     91181035 
    chicken
    (Gallus gallus)
    Aves UPP11 uridine phosphorylase 1 70.23(n)
    72.82(a)
      420942  XM_004935135.1  XP_004935192.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.90812 Transcribed sequence with weak similarity to protein more 82.08(n)    CF784650.1 
    zebrafish
    (Danio rerio)
    Actinopterygii upp16
    uridine phosphorylase 1
    64(a)
    1 ↔ 1
    16(18255653-18263401) ENSDARG00000040869
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37881 CG3788 54.2(n)
    49.3(a)
      37644  NM_001202062.2  NP_001188991.1 
    worm
    (Caenorhabditis elegans)
    Secernentea upp-16
    Protein UPP-1 (upp-1) mRNA, complete cds
    43(a)
    1 → many
    III(7641034-7643101) WBGene00022817


    ENSEMBL Gene Tree for UPP1 (if available)
    TreeFam Gene Tree for UPP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UPP1 gene
    UPP22  
    1 SIMAP similar gene for UPP1 using alignment to 7 protein entries:     UPP1_HUMAN (see all proteins):
    UPP2

    Find genes that share paralogs with UPP1           About GenesLikeMe



    (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 UPP1 (see all 473)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs802248171,2
    C--48126388(+) GAGCTA/GGGTAA 1 -- us2k10--------
    rs1820365611,2
    --48126396(+) TAAAAC/TGAGGC 1 -- us2k10--------
    rs746701841,2
    F--48126470(+) GTTGGC/TAGGTG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1860170051,2
    --48126496(+) GGTTAA/CAAAGA 1 -- us2k10--------
    rs1907260561,2
    --48126614(+) TTATTA/CGCTAA 1 -- us2k10--------
    rs1505062871,2
    --48126677(+) ATAAAC/TACCAT 1 -- us2k10--------
    rs1394863631,2
    C--48126686(+) ATGGCA/GACATT 1 -- us2k10--------
    rs1811582021,2
    --48126766(+) GTATAC/TGATCA 2 -- us2k10--------
    rs1865964181,2
    --48126785(+) CCATAA/CAAATA 2 -- us2k10--------
    rs1444808921,2
    C--48126794(+) TAGCCA/CACCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UPP1 (48128225 - 48148330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for UPP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv997355CNV Deletion20482838
    esv2734369CNV Deletion23290073
    nsv470221CNV Gain18288195
    nsv464442CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UPP1
    DNA2.0 Custom Variant and Variant Library Synthesis for UPP1

    (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: 191730    OMIM disorders: --


    Find genes that share disorders with UPP1           About GenesLikeMe

    9 Novoseek inferred disease relationships for UPP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastric cancer 38.2 1 17214321 (1)
    colon cancer 33 2 10969598 (1), 17098463 (1)
    cancer 27.2 9 11401323 (2), 17949350 (2), 19602572 (1), 20226755 (1) (see all 7)
    tumors 17.8 8 17214321 (1), 16720348 (1), 16736497 (1), 15319798 (1) (see all 5)
    colorectal cancer 15 2 15911984 (1), 15060742 (1)
    solid tumor 14.7 2 17098463 (1), 11807789 (1)
    primary tumor 11.1 1 15060742 (1)
    breast cancer 0 2 16720348 (2)
    metastasis 0 1 15060742 (1)


    Export disorders for UPP1 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 UPP1 gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with UPP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Implications of the structure of human uridine phosphorylase 1 on the development of novel inhibitors for improving the therapeutic window of fluoropyrimidine chemotherapy. (PubMed id 19291308)1, 2, 9 Roosild T.P.... Pizzorno G. (BMC Struct. Biol. 2009)
    2. Expression of uridine and thymidine phosphorylase genes in human breast carcinoma. (PubMed id 11807789)1, 3, 9 Kanzaki A....Uchida T. (Int. J. Cancer 2002)
    3. Active site conformational dynamics in human uridine phosphorylase 1. (PubMed id 20856879)1, 2 Roosild T.P. and Castronovo S. (PLoS ONE 2010)
    4. 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)
    5. Cloning and expression of human uridine phosphorylase. (PubMed id 7488099)1, 2 Watanabe S. and Uchida T. (Biochem. Biophys. Res. Commun. 1995)
    6. Assignment of a gene for uridine phosphorylase to chromosome 7. (PubMed id 752472)1, 3 Denney R.M....Ruddle F.H. (Cytogenet. Cell Genet. 1978)
    7. Uridine phosphorylase association with vimentin. Intracellular distribution and localization. (PubMed id 11278417)1, 9 Russell R.L....Pizzorno G. (J. Biol. Chem. 2001)
    8. The role of thymidine phosphorylase and uridine phosphorylase in (fluoro)pyrimidine metabolism in peripheral blood mononuclear cells. (PubMed id 16798057)1, 9 Temmink O.H....Peters G.J. (amp 2006)
    9. Enhanced cytotoxicity of 5-FU by bFGF through up-regulation of uridine phosphorylase 1. (PubMed id 19714313)1, 9 Im Y.S....Choi J.K. (Mol. Cells 2009)
    10. Uridine phosphorylase in breast cancer: a new prognostic factor? (PubMed id 16720348)7, 9 Yan R....Cao D. (Front. Biosci. 2006)

    (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: 7378 HGNC: 12576 AceView: UPP1 Ensembl:ENSG00000183696 euGenes: HUgn7378
    ECgene: UPP1 Kegg: 7378 H-InvDB: UPP1

    (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 UPP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UPP1 gene:
    Search GeneIP for patents involving UPP1

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



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