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

DPYS Gene

protein-coding   GIFtS: 63
GCID: GC08M105391

dihydropyrimidinase

 Explore 17 diseases affiliated with
DPYS via our new
 Human Malady Compendium 
Biological research products
for DPYS
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dihydropyrimidinase1     EC 3.5.2.23 8
DHPase1 2 3     Hydantoinase3
DHP2 3 5     Hydantoinase3
Dihydropyrimidine Amidohydrolase2 3     

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

Export aliases for DPYS gene to outside databases

Previous GC identifers: GC08M104397 GC08M105459 GC08M105060 GC08M105348 GC08M105460 GC08M100592


(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 DPYS:
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)

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


(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_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DPYS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
105,391,652 bp from pter      End:
105,479,281 bp from pter
Size:
87,630 bases      Orientation:
minus 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: 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

Post-translational modifications:

  • Carbamylation allows a single lysine to coordinate two zinc ions (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14117

  • 4/7 DME Specific Peptides for DPYS (Q14117) (see all 7)
     DIVIWDP  FVAVTST  CDYSLHVA  AVGSDADIV 

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

    REFSEQ proteins: NP_001376.1  
    ENSEMBL proteins: 
     ENSP00000276651   ENSP00000436654   ENSP00000430246  
    Reactome Protein details: Q14117
    Human Recombinant Protein Products: 
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    Novus Biologicals DPYS Protein
    Novus Biologicals DPYS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DPYS

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005829cytosol TAS--


    DPYS for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DPYS


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

    DPYS for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB005847 Dihydroorotase region

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


    (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

    Function Summary:

         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
    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

    miRNA
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    5 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DPYS (see all 7)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DPYS

    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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


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


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Beta-alanine metabolism
    Beta-alanine metabolism1.00
    thymine degradation0.25
    Beta-alanine metabolism0.90
    uracil degradation II (reductive)0.25
    2Pyrimidine metabolism
    Pyrimidine metabolism1.00
    Pyrimidine catabolism0.50
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Fluoropyrimidine Activity
    Fluoropyrimidine Activity1.00
    Fluoropyrimidine Pathway, Pharmacokinetics0.73
    5beta-Alanine metabolism
    beta-Alanine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DPYS
        Beta-alanine metabolism


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

    3 BioSystems Pathways for DPYS 
        Fluoropyrimidine Activity
    uracil degradation II (reductive)
    thymine degradation

    4        Reactome Pathways for DPYS
        Metabolism of nucleotides
    Metabolism
    Pyrimidine catabolism
    Pyrimidine metabolism

    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DPYS

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

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

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (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 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

    DPYS for compounds           About GeneDecksing

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

    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--
    10/16 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about DPYS 

    (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 DPYS gene: 
    NM_001385.2  

    Unigene Cluster for DPYS:

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

    miRNA
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    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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    Additional cDNA sequence: 

    AK311261.1 BC034395.1 D78011.1 

    6 DOTS entries:

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

    24/52 AceView cDNA sequences (see all 52):

    BG400594 AW612623 AW779331 NM_001385 AI672449 CB157200 AI478498 D78011 
    BC034395 AI469047 AW300369 BG401640 CB164695 T60449 CA392979 AI291149 
    AW242821 AV721410 AA987794 AI936331 AV682541 AI765642 AV681903 AI629008 

    GeneLoc Exon Structure

    5/6 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™, 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

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

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

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

    SOURCE GeneReport for Unigene cluster: Hs.443161

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

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    In Situ
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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 DPYS gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DPYS1 dihydropyrimidinase 72.19(n)
    76.36(a)
      420266  XM_418377.3  XP_418377.3 
    lizard
    (Anolis carolinensis)
    Reptilia DPYS6
    --
    82(a)
    1 ↔ 1
    4(13092817-13130378)
    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
    59.68(n)1
    59.32(a)1
      83B23
    406751  NM_169072.21  NP_730954.21 
    worm
    (Caenorhabditis elegans)
    Secernentea dhp-21 , 3 Ulip like protein3
    Protein DHP-21
    58(a)
    (best of 3)3
    57.78(n)1
    58.68(a)1
      IV(9978361-9980884)3
    1778521  NM_069396.51  NP_501797.11 
    K. lactis yeast
    (Kluyveromyces lactis)
    Saccharomycetes KLLA0C19107g1 hypothetical protein 44.67(n)
    33.33(a)
      2892062  XM_453052.1  XP_453052.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PYD21 pyrimidine 2 53.7(n)
    48.72(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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria hyuA6
    D-stereospecific phenylhydantoinase
    35(a)
    1 → many
    Chromosome(3008050-3009435)


    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)
    About This Section
    Paralogs for DPYS gene
    CRMP12  DPYSL32  DPYSL52  DPYSL42  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, 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

    10/1515 NCBI SNPs in DPYS are shown (see all 1515    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219649241,2
    C,pathogenic100641259(-) TAATAC/TGGGAA 2 R W mis10--------
    rs1219649231,2
    C,pathogenic100641336(-) CTGCCA/GGAAAG 2 Q R mis10--------
    rs763862951,2
    F,--100594051(+) AACACC/TGTTGT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs168713611,2
    C,F,H,--100594907(+) TCACCT/CGAGTT 1 -- int125Minor allele frequency- C:0.11NA NS EA CSA WA 2781
    rs803039471,2
    F,--100594970(+) TCTAGC/TAATTG 1 -- int12Minor allele frequency- T:0.08WA NA 238
    rs747432021,2
    F,--100595427(+) CTGAGC/TTCACA 2 -- ds5001 int12Minor allele frequency- T:0.09WA NA 238
    rs1140270551,2
    C,F,--100595756(+) CTCACT/GAATAC 2 -- ds5001 int11Minor allele frequency- G:0.05WA 118
    rs779388451,2
    F,--100595767(+) CCCACT/CCTCTG 2 -- ds5001 int11Minor allele frequency- C:0.02NA 120
    rs761756891,2
    --100595800(+) CTTGGT/CCCCTG 2 -- ds5001 int12Minor allele frequency- C:0.17CSA WA 119
    rs1113040671,2
    C,--100596034(+) TTGACG/TTCTCT 2 -- int1 nc-transcript-variant1Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for DPYS (105391652 - 105479281 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DPYS: --
    Human Gene Mutation Database (HGMD): DPYS

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    DPYS for disorders           About GeneDecksing

    OMIM gene information: 613326   
    OMIM disorders: 222748  
    UniProtKB/Swiss-Prot: DPYS_HUMAN, Q14117
  • Defects in DPYS are the cause of dihydropyrimidinase deficiency (DHPD) [MIM:222748]. DHPD is an autosomal
  • recessive disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype: epileptic
    or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy

    17 diseases for DPYS:    About MalaCards
    dihydropyrimidinuria    5-fluorouracil toxicity    beta-ureidopropionase deficiency    papillon-lefevre disease
    dihydropyrimidine dehydrogenase deficiency    dihydropyrimidinase deficiency    beriberi    oral squamous cell carcinoma
    squamous cell carcinoma    convulsions    gastric cancer    pneumonia
    carcinoma    tuberculosis    hepatitis    neuronitis
    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for DPYS:
    Papillon-Lefevre disease

    5 Novoseek 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)

    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)
    About This Section

    PubMed articles for DPYS gene, integrated from 9 sources (see all 74):
    (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. (1996)
    2. Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. (PubMed id 9718352)1, 2, 9 Hamajima N.... Wada Y. (1998)
    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. Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. (PubMed id 18075467)1, 9 Thomas H.R....Diasio R.B. (2007)
    5. Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. (PubMed id 17383919)1, 9 van Kuilenburg A.B....Bosch A.M. (2007)
    6. Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patie nts. (PubMed id 19649633)1, 9 Fidlerova J....Kleibl Z. (2010)
    7. 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. (1999)
    8. Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. (PubMed id 18216719)1, 9 Thomas H.R....Diasio R.B. (2008)
    9. Dihydropyrimidinase deficiency: Phenotype, genotype a nd structural consequences in 17 patients. (PubMed id 20362666)1 van Kuilenburg A.B....Hennekam R.C. (2010)
    10. Analysis of copy number variation in 8,842 Korean ind ividuals reveals 39 genes associated with hepatic biomarkers AST and ALT. (PubMed id 20797317)1 Kim H.Y....Kim H. (2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1807 HGNC: 3013 AceView: DPYS Ensembl:ENSG00000147647 euGenes: HUgn1807
    ECgene: DPYS Kegg: 1807 H-InvDB: DPYS

    (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 DPYS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DPYS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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