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

UPRT Gene

protein-coding   GIFtS: 52
GCID: GC0XP074493

uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)

 Explore 2 diseases affiliated with
UPRT via our new
 Human Malady Compendium 
Biological research products
for UPRT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
Uracil Phosphoribosyltransferase (FUR1) Homolog (S. Cerevisiae)1 2     UPRTase2
FUR11 2     UMP Pyrophosphorylase2
DKFZp781E12431     Uracil Phosphoribosyltransferase Homolog2
MGC239371     EC 2.4.28
RP11-311P8.31     EC 2.4.2.98
UPP2     

External Ids:    HGNC: 283341   Entrez Gene: 1395962   Ensembl: ENSG000000948417   OMIM: 3006565   UniProtKB: Q96BW13   
ORGUL members:         
NONCODE:n408907    

Export aliases for UPRT gene to outside databases

Previous GC identifers: GC0XP074411 GC0XP074412 GC0XP068128


(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 UPRT:
This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and
5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of nucleotide
metabolism, specifically the pyrimidine salvage pathway. The enzyme localizes to the nucleus and cytoplasm. The
protein is a potential target for rational design of drugs to treat parasitic infections and cancer. (provided by
RefSeq, Nov 2009)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UPRT gene promoter:
         TBP   Sox5   Pax-2   IRF-1   Pax-2a   E47   Meis-1b   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPRT promoter sequence
   Search SABiosciences Chromatin IP Primers for UPRT

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


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

Entrez Gene cytogenetic band: Xq13.3   Ensembl cytogenetic band:  Xq13.3   HGNC cytogenetic band: Xq13.3

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

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP074493:  view genomic region     (about GC identifiers)

Start:
74,493,894 bp from pter      End:
74,524,732 bp from pter
Size:
30,839 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UPP_HUMAN, Q96BW1 (See protein sequence)
Recommended Name: Uracil phosphoribosyltransferase homolog  
Size: 309 amino acids; 33786 Da
Subcellular location: Cytoplasm. Nucleus
Caution: No UPRTase activity has been detected in vitro (PubMed:17384901) and the uracil binding region known from
UPRTases is missing
Secondary accessions: Q5JRL1 Q5JRL3 Q68DN0 Q96MW2
Alternative splicing: 3 isoforms:  Q96BW1-1   Q96BW1-2   Q96BW1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UPRT: NX_Q96BW1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96BW1

  • 4/10 DME Specific Peptides for UPRT (Q96BW1) (see all 10)
     CGVSIMR  EAMEQGL  VAPTHFGQ  DRLIRLVVE 

    UPRT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_659489.1  
    ENSEMBL proteins: 
     ENSP00000362481   ENSP00000362477   ENSP00000433987   ENSP00000362471   ENSP00000434037  

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    Uscn Proteins for UPRT

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    UPRT for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96BW1

    UniProtKB/Swiss-Prot: UPP_HUMAN, Q96BW1
    Similarity: Belongs to the UPRTase family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Enzyme Numbers (IUBMB): EC 2.4.22 EC 2.4.2.92

    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolic pathways0.38
    2Purine metabolism
    Pyrimidine metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    2         Kegg Pathways  (Kegg details for UPRT):
        Pyrimidine metabolism
    Metabolic pathways


    UPRT for pathways           About GeneDecksing

    Interactions:

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

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

    5/36 Interacting proteins for UPRT (Q96BW12, 3 ENSP000003624814) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PYROXD1Q8WU102, 3, ENSP000002406514MINT-66310 I2D: score=4 STRING: ENSP00000240651
    LSG1Q9H0893, ENSP000002652454I2D: score=5 STRING: ENSP00000265245
    CAPZBP477563I2D: score=5 
    NUB1Q9Y5A73I2D: score=5 
    PRPF3O433953I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006222UMP biosynthetic process IEA--
    GO:0007565female pregnancy IEA--
    GO:0007595lactation IEA--
    GO:0032868response to insulin stimulus IEA--


    UPRT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UPRT

    1 HMDB Compound for UPRT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Uracil2,4-Dihydroxypyrimidine (see all 8)66-22-8--
    Search CenterWatch for drugs/clinical trials and news about UPRT / UPP 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UPRT gene: 
    NM_145052.3  

    Unigene Cluster for UPRT:

    Uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)
    Hs.91612  [show with all ESTs]
    Unigene Representative Sequence: NR_030774
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531704(uc010nlu.2) ENST00000373383(uc004ecc.2 uc004ecb.2)
    ENST00000373379(uc004ecd.2) ENST00000462237 ENST00000373373 ENST00000530743
    ENST00000526850 ENST00000474175

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate UPRT:
    hsa-miR-889 hsa-miR-4310
    SwitchGear 3'UTR luciferase reporter plasmidUPRT 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK056354.1 AK293024.1 AK309951.1 AY643714.1 BC015116.1 CR749336.1 NR_030774.1 

    9 DOTS entries:

    DT.312624  DT.95193452  DT.100778120  DT.100778117  DT.121279820  DT.97839697  DT.100778119  DT.415481 
    DT.99930959 

    24/103 AceView cDNA sequences (see all 103):

    BM922249 CR604982 CR593454 AW663733 AL525600 BI753692 BI792340 BI061688 
    BV197929 BM708721 AA974609 BX377231 BM724461 CB243367 AW673861 BE855710 
    BP338537 AK056354 BQ014049 AI942294 AI217507 NM_145052 BI715134 BG054804 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for UPRT (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c · 12d · 12e
    SP1:                                            -                                               -                                 
    SP2:                          -     -     -     -                                               -                                 
    SP3:                          -     -     -     -           -                                                                     
    SP4:                    -     -     -     -     -           -                                   -                                 
    SP5:                          -     -     -     -           -                                   -                                 


    ECgene alternative splicing isoforms for UPRT

    (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

    UPRT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTTTGTAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See UPRT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UPRT

    SOURCE GeneReport for Unigene cluster: Hs.91612

    UniProtKB/Swiss-Prot: UPP_HUMAN, Q96BW1
    Tissue specificity: Highly expressed in leukocytes, liver, spleen and thymus, with lower expression in brain, lung and
    skeletal muscle

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    In Situ
    Assay Products:
     

     
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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 last universal common ancestor (LUCA).

    Orthologs for UPRT gene from 10/34 species (see all 34)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves UPRT1 uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) less 77.01(n)
    82.85(a)
      422327  NM_001031124.1  NP_001026295.1 
    lizard
    (Anolis carolinensis)
    Reptilia UPRT6
    --
    (see all 3)
    --
    92(a)
    44(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    GL343825.1(74337-84296)
    4(155996679-156001423)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.317692 Xenopus laevis transcribed sequence with weak similarity to protein refNP_004426.1 (H.sapiens) endonuclease G precursor [Homo sapiens] less 78.86(n)    CA788636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.117132 Transcribed sequence with weak similarity to protein refNP_060329.1 (H.sapiens) hypothetical protein FLJ20517 [Homo sapiens] less 77.02(n)    BI979327.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55371 CG5537 60.29(n)
    66.03(a)
      38655  NM_139733.2  NP_647990.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C47B2.21 Protein C47B2.2 54.61(n)
    52.26(a)
      3565732  NM_060867.2  NP_493268.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FUR11 Fur1p 55.68(n)
    53.07(a)
      856529   NP_011996.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PRK6
    AT1G261906
    (see all 4)
    phosphoribulokinase/uridine kinase-like protein
    (see all 4)
    3(a)
    2(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    1(11532533-11534639)
    1(9057096-9061086)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    phosphoribulokinase/Uridine kinase family protein,...
    phosphoribulokinase/Uridine kinase family protein,...
    (see all 4)
    4(a)
    3(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    4(29922079-29923760)
    2(28695935-28698540)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria udk6
    uridine/cytidine kinase
    4(a)
    possible ortholog
    Chromosome(2140331-2140972)


    ENSEMBL Gene Tree for UPRT (if available)
    TreeFam Gene Tree for UPRT (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, UniProtKB, 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

    10/349 NCBI SNPs in UPRT are shown (see all 349    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1810842741,2
    --74491978(+) CCCAGA/TGGAAA 2 -- us2k10--------
    rs1865946371,2
    --74492096(+) ATAAAG/TAAGCT 2 -- us2k10--------
    rs2006635001,2
    --74492107(+) GTGAG-/ATATATA 2 -- us2k10--------
    rs1906455071,2
    --74492118(+) ATATAC/TATACA 2 -- us2k10--------
    rs28868441,2
    C,--74492120(+) ATATAC/TACACA 2 -- us2k10--------
    rs23670361,2
    C,--74492133(+) TATATA/GTGTAT 2 -- us2k10--------
    rs2001453271,2
    --74492135(+) ATGTG-/TATATAT 2 -- us2k10--------
    rs30731361,2
    C--74492155(+) ATATA-/TAT   
       ATACA
    CATAT
    2 -- us2k10--------
    rs1999085621,2
    --74492194(+) ATATG-/TGTATA
    TATATATA
    TGTAT
    2 -- us2k10--------
    rs2021239581,2
    --74492196(+) ATGTG-/TATATAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for UPRT (74493894 - 74524732 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UPRT
         1 CNV: 74012
    Locus Specific Mutation Databases (LSDB): UPRT

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UPRT
    DNA2.0 Custom Variant and Variant Library Synthesis for UPRT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UPRT for disorders           About GeneDecksing

    OMIM gene information: 300656    OMIM disorders: --

    2 diseases for UPRT:    About MalaCards
    prostate cancer    prostatitis


    Export disorders for UPRT 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 UPRT gene integrated from 9 sources:
    (articles sorted by number of sources associating them with UPRT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human uracil phosphoribosyltransferase (UPRTase). (PubMed id 17384901)1, 2 Li J....Mao Y. (2007)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    7. Specific targeting of prostate cancer cells in vitro by the suicide gene/prodrug system, uracil phosphoribosyltransferase/5-fluorour acil, under the control of prostate-specific membrane antigen promoter/enhancer . (PubMed id 18626508)1 Zhao F.J....Li H. (2009)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 139596 HGNC: 28334 AceView: MGC23937 Ensembl:ENSG00000094841 euGenes: HUgn139596
    ECgene: UPRT Kegg: 139596 H-InvDB: UPRT

    (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 UPRT Pharmacogenomics, SNPs, Pathways

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

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



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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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