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    DPYD dihydropyrimidine dehydrogenase [ Homo sapiens (human) ]

    Gene ID: 1806, updated on 22-Sep-2016
    Official Symbol
    DPYDprovided by HGNC
    Official Full Name
    dihydropyrimidine dehydrogenaseprovided by HGNC
    Primary source
    HGNC:HGNC:3012
    See related
    Ensembl:ENSG00000188641 HPRD:02036; MIM:612779; Vega:OTTHUMG00000039683
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DHP; DPD; DHPDHASE
    Summary
    The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
    Orthologs
    Location:
    1p22
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (97077743..97921059, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (97543299..98386615, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SK small nuclear pseudogene 270 Neighboring gene polypyrimidine tract binding protein 2 Neighboring gene DPYD antisense RNA 1 Neighboring gene uncharacterized LOC105378867 Neighboring gene SEC63 homolog, protein translocation regulator pseudogene 1 Neighboring gene ribosomal protein L26 pseudogene 9 Neighboring gene CTAGE family member 5, ER export factor pseudogene Neighboring gene DPYD antisense RNA 2 Neighboring gene MIR137 host gene Neighboring gene microRNA 2682 Neighboring gene microRNA 137

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Capecitabine response
    MedGen: CN077963 GeneReviews: Not available
    Compare labs
    Dihydropyrimidine dehydrogenase deficiency
    MedGen: C2720286 OMIM: 274270 GeneReviews: Not available
    Compare labs
    Fluoropyrimidine response
    MedGen: CN184090 GeneReviews: Not available
    Compare labs
    Tegafur response
    MedGen: C1852514 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    NHGRI GWA Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    NHGRI GWA Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC70799, MGC132008

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    NADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dihydropyrimidine dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dihydropyrimidine dehydrogenase (NADP+) activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    dihydropyrimidine dehydrogenase (NADP+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dihydropyrimidine dehydrogenase (NADP+) activity TAS
    Traceable Author Statement
    more info
     
    flavin adenine dinucleotide binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    beta-alanine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    purine nucleobase catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrimidine nucleobase catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pyrimidine nucleobase catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pyrimidine nucleoside catabolic process TAS
    Traceable Author Statement
    more info
     
    thymidine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thymine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    uracil catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    dihydropyrimidine dehydrogenase [NADP(+)]
    Names
    dihydrothymine dehydrogenase
    dihydrouracil dehydrogenase
    NP_000101.2
    NP_001153773.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008807.2 RefSeqGene

      Range
      5001..848317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_722

    mRNA and Protein(s)

    1. NM_000110.3NP_000101.2  dihydropyrimidine dehydrogenase [NADP(+)] isoform 1

      See identical proteins and their annotated locations for NP_000101.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI124948, DA721123, U20938
      Consensus CDS
      CCDS30777.1
      UniProtKB/Swiss-Prot
      Q12882
      Related
      ENSP00000359211, OTTHUMP00000037640, ENST00000370192, OTTHUMT00000095698
      Conserved Domains (6) summary
      PRK08318
      Location:5321007
      PRK08318; dihydropyrimidine dehydrogenase subunit B; Validated
      PRK11749
      Location:53513
      PRK11749; dihydropyrimidine dehydrogenase subunit A; Provisional
      cd02940
      Location:532834
      DHPD_FMN; Dihydropyrimidine dehydrogenase (DHPD) FMN-binding domain. DHPD catalyzes the first step in pyrimidine degradation: the NADPH-dependent reduction of uracil and thymine to the corresponding 5,6-dihydropyrimidines. DHPD contains two FAD, two FMN, and ...
      pfam13187
      Location:953997
      Fer4_9; 4Fe-4S dicluster domain
      pfam13450
      Location:194238
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      pfam14691
      Location:56168
      Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster
    2. NM_001160301.1NP_001153773.1  dihydropyrimidine dehydrogenase [NADP(+)] isoform 2

      See identical proteins and their annotated locations for NP_001153773.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC138135, BC008379, DA721123
      Consensus CDS
      CCDS53346.1
      UniProtKB/Swiss-Prot
      Q12882
      Related
      ENSP00000307107, OTTHUMP00000037641, ENST00000306031, OTTHUMT00000095699
      Conserved Domains (1) summary
      pfam14691
      Location:56162
      Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      97077743..97921059 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270562.3XP_005270619.2  

      Conserved Domains (6) summary
      PRK11749
      Location:53508
      PRK11749; dihydropyrimidine dehydrogenase subunit A; Provisional
      cd02940
      Location:509762
      DHPD_FMN; Dihydropyrimidine dehydrogenase (DHPD) FMN-binding domain. DHPD catalyzes the first step in pyrimidine degradation: the NADPH-dependent reduction of uracil and thymine to the corresponding 5,6-dihydropyrimidines. DHPD contains two FAD, two FMN, and ...
      pfam13187
      Location:881925
      Fer4_9; 4Fe-4S dicluster domain
      pfam13450
      Location:194238
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      pfam14691
      Location:56168
      Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster
      pfam14697
      Location:874932
      Fer4_21; 4Fe-4S dicluster domain
    2. XM_017000510.1XP_016855999.1  

    3. XM_017000509.1XP_016855998.1  

    4. XM_017000508.1XP_016855997.1  

    5. XM_017000507.1XP_016855996.1  

    6. XM_006710397.3XP_006710460.1  

      Conserved Domains (5) summary
      TIGR01037
      Location:533846
      pyrD_sub1_fam; dihydroorotate dehydrogenase (subfamily 1) family protein
      PRK11749
      Location:53513
      PRK11749; dihydropyrimidine dehydrogenase subunit A; Provisional
      cd02940
      Location:532834
      DHPD_FMN; Dihydropyrimidine dehydrogenase (DHPD) FMN-binding domain. DHPD catalyzes the first step in pyrimidine degradation: the NADPH-dependent reduction of uracil and thymine to the corresponding 5,6-dihydropyrimidines. DHPD contains two FAD, two FMN, and ...
      pfam13450
      Location:194238
      NAD_binding_8; NAD(P)-binding Rossmann-like domain
      pfam14691
      Location:56168
      Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

    RNA

    1. XR_001737014.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      97659318..98502216 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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