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DPYS Gene

protein-coding   GIFtS: 67
GCID: GC08M105391

Dihydropyrimidinase

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
dihydropyrimidinase1 2     EC 3.5.2.23 8
DHP2 3 5     hydantoinase2
Dihydropyrimidine Amidohydrolase2 3     Hydantoinase3
DHPase2 3     

External Ids:    HGNC: 30131   Entrez Gene: 18072   Ensembl: ENSG000001476477   OMIM: 6133265   UniProtKB: Q141173   
ORGUL members:         

Export aliases for DPYS gene to outside databases

Previous GC identifers: GC08M104397 GC08M105459 GC08M105060 GC08M105348 GC08M105460 GC08M100592


(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 DPYS Gene:
Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism.
Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor
3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. (provided by RefSeq, Jul 2008)

GeneCards Summary for DPYS Gene:
DPYS (dihydropyrimidinase) is a protein-coding gene. Diseases associated with DPYS include beriberi, and dihydropyrimidinase deficiency. GO annotations related to this gene include dihydropyrimidinase activity and phosphoprotein binding. An important paralog of this gene is DPYSL3.

UniProtKB/Swiss-Prot: DPYS_HUMAN, Q14117
Function: Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring
opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of
5,6-dihydrothymine to N-carbamyl-amino isobutyrate

Gene Wiki entry for DPYS 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_000008.11  NT_008046.17  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPYS gene promoter:
         GATA-3   CUTL1   E4BP4   GATA-1   GATA-2   Egr-4   FOXO1a   Chx10   Msx-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPYS promoter sequence
   Search Chromatin IP Primers for DPYS

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


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M105391:  view genomic region     (about GC identifiers)

Start:
105,342,552 bp from pter      End:
105,479,281 bp from pter
Size:
136,730 bases      Orientation:
minus 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: DPYS_HUMAN, Q14117 (See protein sequence)
Recommended Name: Dihydropyrimidinase  
Size: 519 amino acids; 56630 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Homotetramer (Probable)
1 PDB 3D structure from and Proteopedia for DPYS:
2VR2 (3D)    

Explore the universe of human proteins at neXtProt for DPYS: NX_Q14117

Explore proteomics data for DPYS at MOPED

Post-translational modifications: 

  • Carbamylation allows a single lysine to coordinate two zinc ions (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DPYS (Q14117) (see all 7)
     DIVIWDP  FVAVTST  CDYSLHVA  AVGSDADIV 


    See DPYS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001376.1  
    ENSEMBL proteins: 
     ENSP00000276651   ENSP00000436654   ENSP00000430246  
    Reactome Protein details: Q14117

    DPYS Human Recombinant Protein Products:

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    DPYS Antibody Products:

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    DPYS Assay Products:

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    Cloud-Clone Corp. CLIAs for DPYS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011778 Hydantoinase/dihydroPyrase
     IPR006680 Amidohydro_1
     IPR011059 Metal-dep_hydrolase_composite

    Graphical View of Domain Structure for InterPro Entry Q14117

    ProtoNet protein and cluster: Q14117

    1 Blocks protein domain: IPB005847 Dihydroorotase region

    UniProtKB/Swiss-Prot: DPYS_HUMAN, Q14117
    Similarity: Belongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily


    DPYS 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: DPYS_HUMAN, Q14117
    Function: Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring
    opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of
    5,6-dihydrothymine to N-carbamyl-amino isobutyrate
    Catalytic activity: 5,6-dihydrouracil + H(2)O = 3-ureidopropanoate

         Genatlas biochemistry entry for DPYS:
    dihydropyrimidinase

         Enzyme Number (IUBMB): EC 3.5.2.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002058uracil binding IEA--
    GO:0002059thymine binding IEA--
    GO:0004157dihydropyrimidinase activity TAS--
    GO:0008270zinc ion binding NAS9718352
    GO:0016597amino acid binding IEA--
         
    DPYS for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DPYS:
     Cell cycle / mitosis defect 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DPYS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DPYS
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    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate DPYS:
    hsa-miR-33a* hsa-miR-219-1-3p hsa-miR-29a* hsa-miR-3065-5p hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidDPYS 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DPYS

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPYS


    (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
    nucleus2
    cytoskeleton1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    DPYS 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 DPYS About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Pyrimidine metabolism0.33
    Fluoropyrimidine Pathway, Pharmacokinetics0.69
    Pyrimidine catabolism0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3superpathway of pyrimidine ribonucleosides degradation
    superpathway of pyrimidine ribonucleosides degradation0.60
    uracil degradation I (reductive)0.00
    thymine degradation0.60
    4Purine metabolism (REACTOME)
    Metabolism of nucleotides0.42
    5Purine metabolism (KEGG)
    Pyrimidine metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for DPYS
        Beta-alanine metabolism

    4 BioSystems Pathways for DPYS
        Fluoropyrimidine Activity
    uracil degradation I (reductive)
    thymine degradation
    superpathway of pyrimidine ribonucleosides degradation


    1 Reactome Pathway for DPYS
        Pyrimidine catabolism

    1 PharmGKB Pathway for DPYS
        Fluoropyrimidine Pathway, Pharmacokinetics

    5 Kegg Pathways  (Kegg details for DPYS):
        Pyrimidine metabolism
    beta-Alanine metabolism
    Pantothenate and CoA biosynthesis
    Drug metabolism - other enzymes
    Metabolic pathways


    DPYS for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for DPYS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for DPYS (Q141173 ENSP000002766514) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DPYSL5Q9BPU63, ENSP000002886994I2D: score=1 STRING: ENSP00000288699
    DPYDENSP000003592114STRING: ENSP00000359211
    UPB1ENSP000003243434STRING: ENSP00000324343
    CADENSP000002647054STRING: ENSP00000264705
    KIAA0368ENSP000002593354STRING: ENSP00000259335
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006206pyrimidine nucleobase metabolic process TAS--
    GO:0006208pyrimidine nucleobase catabolic process IDA9718352
    GO:0006210thymine catabolic process ISS--
    GO:0006212uracil catabolic process IMP18075467
    GO:0019482beta-alanine metabolic process IEA--

    DPYS 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 DPYS

    5 HMDB Compounds for DPYS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrothymine5,6-Dihydro-5-methyluracil (see all 7)696-04-8--
    Dihydrouracil5,6-Dihydro-2,4(1H,3H)-pyrimidinedione (see all 8)504-07-4--
    Ureidoisobutyric acid3-Ureidoisobutyrate (see all 12)2905-86-4--
    Ureidopropionic acid3-Ureido-propionate (see all 20)462-88-4--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for DPYS gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-phenylhydantoin 94.3 2 11910755 (1), 12557399 (1)
    5-benzylhydantoin 91.9 3 12557399 (2), 11910755 (1)
    dihydrouracil 91.7 3 17383919 (1), 12271438 (1)
    hydantoin 91.6 7 10222578 (1), 11910755 (1), 11849938 (1), 15733920 (1) (see all 7)
    5,6-dihydrothymine 88.1 3 17383919 (1), 12271438 (1)
    pyrimidine 77.8 15 19571472 (1), 17383919 (1), 16498612 (1), 11482736 (1) (see all 12)
    dexrazoxane 74.5 5 15764716 (1), 12433815 (1), 8024952 (1), 7902252 (1)
    thymine 60.5 1 12271438 (1)
    5fluorouracil 51.5 17 14555507 (4), 18075467 (1), 15571261 (1), 9816152 (1) (see all 5)
    purine nucleoside 43.9 1 16613999 (1)



    DPYS 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 DPYS gene: 
    NM_001385.2  

    Unigene Cluster for DPYS:

    Dihydropyrimidinase
    Hs.443161  [show with all ESTs]
    Unigene Representative Sequence: NM_001385
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521601 ENST00000351513(uc003yly.4) ENST00000520806 ENST00000533874
    ENST00000520483(uc010mcf.1) ENST00000521372 ENST00000519217 ENST00000521573

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate DPYS:
    hsa-miR-33a* hsa-miR-219-1-3p hsa-miR-29a* hsa-miR-3065-5p hsa-miR-548l
    SwitchGear 3'UTR luciferase reporter plasmidDPYS 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat DPYS

    Additional mRNA sequence: 

    AK311261.1 BC034395.1 D78011.1 

    6 DOTS entries:

    DT.314560  DT.75107450  DT.99977365  DT.91748887  DT.95267968  DT.91748882 

    Selected AceView cDNA sequences (see all 52):

    BC034395 NM_001385 AI478498 D78011 AW612623 AW779331 CB157200 BG400594 
    AI672449 AV681903 CB164695 AI936331 AW242821 AV721410 AV682541 AI831914 
    AW024852 AA987794 AW612325 AI629008 AI765642 T60449 AI291149 BG401640 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DPYS (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13
    SP1:                                                  -     -     -     -                       -         
    SP2:                                                        -     -     -                                 
    SP3:                                                                    -                                 
    SP4:                                                                                                      
    SP5:              -                                                                                       


    ECgene alternative splicing isoforms for DPYS

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


    DPYS 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
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Gonad
             Primordial Germ Cells Allantois
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Kidney (Urinary System)
    DPYS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPYS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443161

    UniProtKB/Swiss-Prot: DPYS_HUMAN, Q14117
    Tissue specificity: Liver and kidney

        Custom PCR Arrays for DPYS
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPYS

    (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 DPYS gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpys1 , 5 dihydropyrimidinase1, 5 86.04(n)1
    88.61(a)1
      15 (15.53 cM)5
    647051  NM_022722.31  NP_073559.31 
     397684855 
    chicken
    (Gallus gallus)
    Aves DPYS1 dihydropyrimidinase 72.18(n)
    76.21(a)
      420266  NM_001277427.1  NP_001264356.1 
    lizard
    (Anolis carolinensis)
    Reptilia DPYS6
    dihydropyrimidinase
    82(a)
    1 ↔ 1
    4(13092817-13133494)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dpys1 dihydropyrimidinase 73.12(n)
    79.23(a)
      100491365  XM_002931539.2  XP_002931585.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dpys1 dihydropyrimidinase 69.69(n)
    75.4(a)
      100144569  NM_001123063.1  NP_001116535.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CRMP1 , 3 dihydropyrimidinase3
    Collapsin Response Mediator Protein1
    55(a)3
    59.42(n)1
    59.07(a)1
      83B23
    406751  NM_169072.31  NP_730954.21 
    worm
    (Caenorhabditis elegans)
    Secernentea dhp-21 , 3 Ulip like protein3
    dhp-21
    58(a)
    (best of 3)3
    57.78(n)1
    58.68(a)1
      IV(9978361-9980884)3
    1778521  NM_069396.61  NP_501797.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DAL16
    Allantoinase, converts allantoin to allantoate in ...
    22(a)
    1 → many
    IX(406260-407642) YIR027C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PYD21 PYD2 53.53(n)
    48.34(a)
      831093  NM_121258.3  NP_568258.2 
    rice
    (Oryza sativa)
    Liliopsida Os.336102 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.18(n)    AK072454.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DPYS gene
    DPYSL32  CRMP12  DPYSL42  DPYSL52  DPYSL22  
    5 SIMAP similar genes for DPYS using alignment to 3 protein entries:     DPYS_HUMAN (see all proteins):
    CRMP1    DPYSL2    DPYSL3    DPYSL4    DPYSL5

    DPYS for paralogs           About GeneDecksing



    (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 DPYS (see all 1765)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219649241,2,,4
    CDihydropyrimidinase deficiency (DHPD)4 pathogenic1105717447(-) TAATAC/TGGGAA 2 R W mis10--------
    rs1219649231,2,,4
    CDihydropyrimidinase deficiency (DHPD)4 pathogenic1105717524(-) CTGCCA/GGAAAG 2 Q R mis10--------
    VAR_0022704
    Dihydropyrimidinase deficiency (DHPD)4--see VAR_0022702 G R mis40--------
    VAR_0022714
    Dihydropyrimidinase deficiency (DHPD)4--see VAR_0022712 R T mis40--------
    VAR_0022674
    Dihydropyrimidinase deficiency (DHPD)4--see VAR_0022672 T R mis40--------
    rs3774478241,2
    C--100602809(+) ATTTT-/A/AT/A
    TTT
    /ATTTT
    TTTTT
    1 -- int10--------
    rs715779151,2
    C--100613130(+) GTCTC-/A/AA  
            
    AAAAA
    1 -- int11NA 2
    rs106805691,2
    C--100629941(+) gtgtg-/TG    
       
    /TGTG
    CACGC
    1 -- int10--------
    rs715779141,2
    C--105394080(+) GAAAT-/CA/CA 
    CACACACA
    CACAC
    1 -- int11NA 2
    rs595813741,2
    C--105394112(+) CACAC-/AT/CAC
    ACACACACA
    ACACA
    2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for DPYS (105342552 - 105479281 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DPYS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6337CNV Insertion18451855
    nsv831417CNV Loss17160897

    Human Gene Mutation Database (HGMD): DPYS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DPYS
    DNA2.0 Custom Variant and Variant Library Synthesis for DPYS

    (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: 613326   
    OMIM disorders: 222748  
    UniProtKB/Swiss-Prot: DPYS_HUMAN, Q14117
  • Dihydropyrimidinase deficiency (DHPD) [MIM:222748]: A disorder characterized by dihydropyrimidinuria and
    associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic
    features and severe developmental delay, and congenital microvillous atrophy. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 13 diseases for DPYS:    
    About MalaCards
    beriberi    dihydropyrimidinase deficiency    beta-ureidopropionase deficiency    dihydropyrimidine dehydrogenase deficiency
    5-fluorouracil toxicity    papillon-lefevre disease    oral squamous cell carcinoma    squamous cell carcinoma
    tuberculosis    multiple myeloma    myeloma    hepatitis
    malaria

    2 diseases from the University of Copenhagen DISEASES database for DPYS:
    Dihydropyrimidine dehydrogenase deficiency     Beriberi

    DPYS for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for DPYS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enzyme deficiency 62.3 1 19571472 (1)
    developmental delay 36.2 2 16176880 (1), 7541877 (1)
    tumors 2.95 1 14676824 (1)
    atrophy 0 1 9323563 (1)
    cancer 0 2 19649633 (1), 12829003 (1)

    Genetic Association Database (GAD): DPYS
    Human Genome Epidemiology (HuGE) Navigator: DPYS (4 documents)

    Export disorders for DPYS 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 DPYS gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with DPYS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene family defined by human dihydropyrimidinase and three related proteins with differential tissue distribution. (PubMed id 8973361)1, 2, 3, 9 Hamajima N.... Nonaka M. (Gene 1996)
    2. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PubMed id 18075467)1, 4, 9 Thomas H.R....Diasio R.B. (Pharmacogenet. Genomics 2007)
    3. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients. (PubMed id 19649633)1, 4, 9 Fidlerova J....Kleibl Z. (Cancer Chemother. Pharmacol. 2010)
    4. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. (PubMed id 9718352)1, 2, 9 Hamajima N.... Wada Y. (Am. J. Hum. Genet. 1998)
    5. Analysis of copy number variation in 8,842 Korean individuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PubMed id 20797317)1, 4 Kim H.Y....Kim H. (BMB Rep 2010)
    6. 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)
    7. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. (PubMed id 17383919)1, 9 van Kuilenburg A.B....Bosch A.M. (Mol. Genet. Metab. 2007)
    8. Radiochemical assay for determination of dihydropyrimidinase activity using reversed-phase high-performance liquid chromatography. (PubMed id 10410956)1, 9 Van Kuilenburg A.B....Van Gennip A.H. (J. Chromatogr. B Biomed. Sci. Appl. 1999)
    9. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PubMed id 18216719)1, 9 Thomas H.R....Diasio R.B. (Pharmacogenet. Genomics 2008)
    10. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. (PubMed id 20362666)1 van Kuilenburg A.B....Hennekam R.C. (Biochim. Biophys. Acta 2010)

    (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: 1807 HGNC: 3013 AceView: DPYS Ensembl:ENSG00000147647 euGenes: HUgn1807
    ECgene: DPYS Kegg: 1807 H-InvDB: DPYS

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DPYS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/238905/

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

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



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