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DPYD dihydropyrimidine dehydrogenase [ Homo sapiens (human) ]

Gene ID: 1806, updated on 18-Jul-2015
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
See DPYD in Epigenomics, MapViewer
Location:
1p22
Exon count:
25
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein L7 pseudogene 9 Neighboring gene polypyrimidine tract binding protein 2 Neighboring gene uncharacterized LOC105378868 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 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 binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
nucleobase-containing small molecule metabolic process TAS
Traceable Author Statement
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 nucleobase metabolic process TAS
Traceable Author Statement
more info
 
pyrimidine nucleoside catabolic process TAS
Traceable Author Statement
more info
 
small molecule metabolic 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 ...
    pfam13183
    Location:951997
    Fer4_8; 4Fe-4S dicluster domain
    pfam13450
    Location:194238
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    pfam14691
    Location:58166
    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:58162
    Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    97077743..97921059
    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 ...
    pfam13183
    Location:879925
    Fer4_8; 4Fe-4S dicluster domain
    pfam13450
    Location:194238
    NAD_binding_8; NAD(P)-binding Rossmann-like domain
    pfam14691
    Location:58166
    Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster
    pfam14697
    Location:874932
    Fer4_21; 4Fe-4S dicluster domain
  2. XM_006710397.2XP_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:58166
    Fer4_20; Dihydroprymidine dehydrogenase domain II, 4Fe-4S cluster

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

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