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Aliases for DPYD Gene

Aliases for DPYD Gene

  • Dihydropyrimidine Dehydrogenase 2 3
  • Dihydrothymine Dehydrogenase 3 4
  • Dihydrouracil Dehydrogenase 3 4
  • EC 1.3.1.2 4 63
  • DHPDHASE 3 4
  • DPD 3 4
  • DHP 3

External Ids for DPYD Gene

Previous GeneCards Identifiers for DPYD Gene

  • GC01M097839
  • GC01M096644
  • GC01M096828
  • GC01M097255
  • GC01M097543
  • GC01M095664

Summaries for DPYD Gene

Entrez Gene Summary for DPYD Gene

  • 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]

GeneCards Summary for DPYD Gene

DPYD (Dihydropyrimidine Dehydrogenase) is a Protein Coding gene. Diseases associated with DPYD include dihydropyrimidine dehydrogenase deficiency and 1p21.3 microdeletion syndrome. Among its related pathways are Metabolism and DNA Damage. GO annotations related to this gene include protein homodimerization activity and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for DPYD Gene

  • Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil

Gene Wiki entry for DPYD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPYD Gene

Genomics for DPYD Gene

Regulatory Elements for DPYD Gene

Genomic Location for DPYD Gene

Chromosome:
1
Start:
97,077,743 bp from pter
End:
97,921,059 bp from pter
Size:
843,317 bases
Orientation:
Minus strand

Genomic View for DPYD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DPYD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPYD Gene

Proteins for DPYD Gene

  • Protein details for DPYD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12882-DPYD_HUMAN
    Recommended name:
    Dihydropyrimidine dehydrogenase [NADP(+)]
    Protein Accession:
    Q12882
    Secondary Accessions:
    • A2RRQ2
    • A2RRQ3
    • A8K5A2
    • A8MWG9
    • B1AN21
    • E9PFN1
    • Q16694
    • Q16761
    • Q32NB0
    • Q96HL6
    • Q96TH1

    Protein attributes for DPYD Gene

    Size:
    1025 amino acids
    Molecular mass:
    111401 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 2 FAD.;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210; Note=Binds 2 FMN.;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 4 [4Fe-4S] clusters. Contains approximately 16 iron atoms per subunit.;
    Quaternary structure:
    • Homodimer

    Alternative splice isoforms for DPYD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DPYD Gene

Proteomics data for DPYD Gene at MOPED

Post-translational modifications for DPYD Gene

  • Ubiquitination at Lys 89, Lys 107, Lys 709, Lys 725, and Lys 908
  • Modification sites at PhosphoSitePlus

Other Protein References for DPYD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DPYD (DPYD)

Domains & Families for DPYD Gene

Graphical View of Domain Structure for InterPro Entry

Q12882

UniProtKB/Swiss-Prot:

DPYD_HUMAN :
  • Contains 3 4Fe-4S ferredoxin-type domains.
  • Belongs to the dihydropyrimidine dehydrogenase family.
Domain:
  • Contains 3 4Fe-4S ferredoxin-type domains.
Family:
  • Belongs to the dihydropyrimidine dehydrogenase family.
genes like me logo Genes that share domains with DPYD: view

No data available for Gene Families for DPYD Gene

Function for DPYD Gene

Molecular function for DPYD Gene

GENATLAS Biochemistry:
dihydropyrimidine dehydrogenase,pyrimidine catabolic pathway,pyrimidine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
5,6-dihydrouracil + NADP(+) = uracil + NADPH
UniProtKB/Swiss-Prot Function:
Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil

Enzyme Numbers (IUBMB) for DPYD Gene

Gene Ontology (GO) - Molecular Function for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0017113 dihydropyrimidine dehydrogenase (NADP+) activity TAS --
GO:0042803 protein homodimerization activity ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DPYD: view

Animal Model Products

miRNA for DPYD Gene

miRTarBase miRNAs that target DPYD

No data available for Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for DPYD Gene

Localization for DPYD Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPYD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DPYD Gene COMPARTMENTS Subcellular localization image for DPYD gene
Compartment Confidence
cytosol 5
nucleus 1

Gene Ontology (GO) - Cellular Components for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 1512248
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with DPYD: view

Pathways & Interactions for DPYD Gene

genes like me logo Genes that share pathways with DPYD: view

Pathways by source for DPYD Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q12882-DPYD_HUMAN

  • Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis

Gene Ontology (GO) - Biological Process for DPYD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006145 purine nucleobase catabolic process IMP 11988088
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006208 pyrimidine nucleobase catabolic process ISS --
GO:0006210 thymine catabolic process IDA 10410956
GO:0006212 uracil catabolic process IDA 1512248
genes like me logo Genes that share ontologies with DPYD: view

No data available for SIGNOR curated interactions for DPYD Gene

Drugs & Compounds for DPYD Gene

(50) Drugs for DPYD Gene - From: NovoSeek, HMDB, DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, and ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1179
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 1937
FAD Approved Pharma Target 0
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1013
leucovorin Approved Pharma 922

(51) Additional Compounds for DPYD Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dihydrouracil
  • 5,6-Dihydro-2,4(1H,3H)-pyrimidinedione
  • 5,6-Dihydro-2,4-dihydroxypyrimidine
  • 5,6-Dihydrouracil
  • Dihydro-2,4(1H,3H)-pyrimidinedione
  • Dihydro-pyrimidine-2,4-dione
504-07-4
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
5,6-Dihydro-5-fluorouracil
Dihydrothymine
  • 5,6-Dihydro-5-methyluracil
  • 5,6-Dihydrothymine
  • 5-Methyl-5,6-dihydrouracil
  • 5-Methyl-Hydrouracil
  • 5-Methyldihydropyrimidine-2,4(1H,3H)-dione
696-04-8
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with DPYD: view

Transcripts for DPYD Gene

Unigene Clusters for DPYD Gene

Dihydropyrimidine dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DPYD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DPYD Gene

No ASD Table

Relevant External Links for DPYD Gene

GeneLoc Exon Structure for
DPYD
ECgene alternative splicing isoforms for
DPYD

Expression for DPYD Gene

mRNA expression in normal human tissues for DPYD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DPYD Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for DPYD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.1) and Testis (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DPYD Gene



SOURCE GeneReport for Unigene cluster for DPYD Gene Hs.335034

mRNA Expression by UniProt/SwissProt for DPYD Gene

Q12882-DPYD_HUMAN
Tissue specificity: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells
genes like me logo Genes that share expression patterns with DPYD: view

Protein tissue co-expression partners for DPYD Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DPYD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DPYD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DPYD 35
  • 91.41 (n)
  • 92.38 (a)
DPYD 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPYD 35
  • 92.5 (n)
  • 92.56 (a)
DPYD 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpyd 35
  • 86.15 (n)
  • 89.56 (a)
Dpyd 16
Dpyd 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DPYD 35
  • 99.38 (n)
  • 99.71 (a)
DPYD 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dpyd 35
  • 85.59 (n)
  • 89.17 (a)
oppossum
(Monodelphis domestica)
Mammalia DPYD 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves DPYD 35
  • 80.68 (n)
  • 84.68 (a)
DPYD 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DPYD 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpyd 35
  • 76.1 (n)
  • 82.05 (a)
Str.17288 35
zebrafish
(Danio rerio)
Actinopterygii dpydb 35
  • 69.02 (n)
  • 76.52 (a)
Dr.19758 35
CR855273.1 36
  • 80 (a)
OneToMany
DPYD (3 of 5) 36
  • 92 (a)
OneToMany
DPYD (4 of 5) 36
  • 71 (a)
OneToMany
dpyda 36
  • 80 (a)
OneToMany
dpydb 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Reg-3 37
  • 61 (a)
su(r) 35
  • 60.92 (n)
  • 67.13 (a)
su(r) 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001021 35
  • 58.66 (n)
  • 65.1 (a)
worm
(Caenorhabditis elegans)
Secernentea C25F6.3 37
  • 65 (a)
dpyd-1 35
  • 63.14 (n)
  • 67.13 (a)
dpyd-1 36
  • 63 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLT1 36
  • 9 (a)
OneToOne
GLT1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6926 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 69 (a)
OneToOne
Species with no ortholog for DPYD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DPYD Gene

ENSEMBL:
Gene Tree for DPYD (if available)
TreeFam:
Gene Tree for DPYD (if available)

Paralogs for DPYD Gene

No data available for Paralogs for DPYD Gene

Variants for DPYD Gene

Sequence variations from dbSNP and Humsavar for DPYD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs16798 -- 97,882,219(-) AATTC(A/C)GTTTT intron-variant
rs290806 -- 97,086,500(+) TTTGG(C/T)CTATT intron-variant
rs290807 -- 97,086,687(+) ACACT(A/G)TCGTA intron-variant
rs290808 -- 97,087,255(+) GATCT(C/G)TTACA intron-variant
rs290849 -- 97,085,064(-) CATAT(C/T)CAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DPYD Gene

Variant ID Type Subtype PubMed ID
nsv830692 CNV Gain+Loss 17160897
esv2523572 CNV Deletion 19546169
esv2715174 CNV Deletion 23290073
esv2167618 CNV Deletion 18987734
esv2715185 CNV Deletion 23290073
esv2715196 CNV Deletion 23290073
nsv470728 CNV Loss 18288195
esv271356 CNV Insertion 20981092
nsv871536 CNV Loss 21882294
nsv1988 CNV Insertion 18451855
esv2715207 CNV Deletion 23290073
nsv871806 CNV Loss 21882294
nsv870572 CNV Loss 21882294
nsv830703 CNV Gain+Loss 17160897
nsv519191 CNV Loss 19592680
nsv871449 CNV Loss 21882294
nsv1999 CNV Insertion 18451855
nsv160842 CNV Loss 16902084
nsv871708 CNV Loss 21882294
nsv830714 CNV Gain 17160897
esv2673743 CNV Deletion 23128226
nsv528034 CNV Gain 19592680
dgv9n21 CNV Gain 19592680
esv268955 CNV Insertion 20981092
nsv2010 CNV Loss 18451855
dgv271n71 CNV Loss 21882294
nsv871625 CNV Loss 21882294
esv2715218 CNV Deletion 23290073
esv2667527 CNV Deletion 23128226
esv8104 CNV Gain 19470904
nsv830725 CNV Loss 17160897
dgv272n71 CNV Loss 21882294
nsv871077 CNV Loss 21882294
nsv462572 CNV Loss 19166990
nsv2021 CNV Insertion 18451855
nsv2032 CNV Loss 18451855
nsv870727 CNV Loss 21882294

Variation tolerance for DPYD Gene

Residual Variation Intolerance Score: 80.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.23; 84.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DPYD Gene

HapMap Linkage Disequilibrium report
DPYD
Human Gene Mutation Database (HGMD)
DPYD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DPYD Gene

Disorders for DPYD Gene

MalaCards: The human disease database

(21) MalaCards diseases for DPYD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
dihydropyrimidine dehydrogenase deficiency
  • 5-fluorouracil toxicity
1p21.3 microdeletion syndrome
  • del(1)p(21.3)
dpyd-related altered drug metabolism
  • 5-fluorouracil toxicity
dihydropyrimidinuria
  • dihydropyrimidinase deficiency
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
- elite association
Search DPYD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DPYD_HUMAN
  • Dihydropyrimidine dehydrogenase deficiency (DPYDD) [MIM:274270]: A metabolic disorder with large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation. It is characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5-hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. {ECO:0000269 PubMed:14702039, ECO:0000269 PubMed:16710414, ECO:0000269 PubMed:9266349, ECO:0000269 PubMed:9439663}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for DPYD Gene

thymine-uraciluria,with convulsive disorders of variable clinical expression,motor and mental retardation,mild or quite severe,hereditary and sensitivity to fluorouracyl in heterozygotes

Relevant External Links for DPYD

Genetic Association Database (GAD)
DPYD
Human Genome Epidemiology (HuGE) Navigator
DPYD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DPYD
genes like me logo Genes that share disorders with DPYD: view

Publications for DPYD Gene

  1. Potential for predicting toxicity and response of fluoropyrimidines in patients. (PMID: 15134221) Eliason J.F. … Megyeri A. (Curr Drug Targets 2004) 23 25 26 67
  2. Enzyme expression profiles suggest the novel tumor-activated fluoropyrimidine carbamate capecitabine (Xeloda) might be effective against papillary thyroid cancers of children and young adults. (PMID: 15132128) Patel A. … Francis G.L. (Cancer Chemother. Pharmacol. 2004) 23 25 26 67
  3. Augmentation of the antitumor activity of capecitabine by a tumor selective dihydropyrimidine dehydrogenase inhibitor, RO0094889. (PMID: 12866042) Endo M. … Ishitsuka H. (Int. J. Cancer 2003) 23 25 26 67
  4. High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism. (PMID: 12527930) Gross E. … Kiechle M. (Int. J. Oncol. 2003) 23 25 26 67
  5. Induction of thymidine phosphorylase in both irradiated and shielded, contralateral human U87MG glioma xenografts: implications for a dual modality treatment using capecitabine and irradiation. (PMID: 12481438) Blanquicett C. … Johnson M.R. (Mol. Cancer Ther. 2002) 23 25 26 67

Products for DPYD Gene

Sources for DPYD Gene

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