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Aliases & Descriptions for DPYD
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DHP 2 | | DHPDHASE 2 | | DHPDHase 3 | | DPD 1, 2, 3, 5 | | EC 1.3.1.2 3 | | MGC132008 2 | | MGC70799 2 | | OTTHUMP00000037640 2 | | OTTHUMP00000058954 2 |
| | | Descriptions |
|---|
| Dihydrothymine dehydrogenase 2, 3 | | Dihydrouracil dehydrogenase 2, 3 | | dihydropyrimidine dehydrogenase 2 |
|
| | Search outside databases for aliases for DPYD genePrevious GC identifers: GC01M097839 GC01M096644 GC01M096828 GC01M097015 |
Summaries for DPYD(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for DPYD: 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] UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882Function: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracilGene Wiki entry for DPYD |
Genomic Location for DPYD
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the DPYD gene 
Entrez Gene cytogenetic band: 1p22 Ensembl cytogenetic band: 1p21.3 HGNC cytogenetic band: 1p22DPYD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M097255:
(about GC identifiers)
Start:
|
97,315,887 bp from pter |
End:
|
98,159,203 bp from pter |
Size:
|
843,317 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000001.9 NT_032977.8
| Proteins for DPYD
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882 (See
protein sequence)Recommended Name: Dihydropyrimidine dehydrogenase [NADP+] precursor Size: 1025 amino acids; 111401 Da
Cofactor: Binds 2 FAD
Cofactor: Binds 2 FMN
Cofactor: Binds 2 4Fe-4S clusters. Contains approximately 33 iron atoms per molecule
Subunit: Homodimer
Subcellular location: Cytoplasm
Secondary accessions: A2RRQ2 A2RRQ3 A8K5A2 A8MWG9 Q16694 Q16761 Q96TH1Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_000101.2 NP_001153773.1
ENSEMBL proteins: ENSP00000359211 ENSP00000377715 ENSP00000307107 ENSP00000359210
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for DPYD: Assays for DPYD: | Protein
Domains/ Families for DPYD(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q12882
ProtoNet protein and cluster: Q12882 2 Blocks protein families: IPB000103 Pyridine nucleotide-disulphide oxidoreductase IPB001327 Pyridine nucleotide-disulphide oxidoreductase
UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882Similarity: Belongs to the dihydropyrimidine dehydrogenase familySimilarity: Contains 3 4Fe-4S ferredoxin-type domains | Gene Function for DPYD
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000110
Applied Biosystems Silencer® siRNAs for DPYD
Sigma-Aldrich siRNA and siRNA Panels for DPYD  Sigma-Aldrich shRNA for DPYD  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000110                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000110                                  untagged cDNA clone in CMV expression vector: NM_000110 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000110
UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882Function: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracilCatalytic activity: 5,6-dihydrouracil + NADP(+) = uracil + NADPHEnzyme Number (IUBMB): EC 1.3.1.2 Genatlas biochemistry entry for DPYD:dihydropyrimidine dehydrogenase,pyrimidine catabolic pathway,pyrimidine catabolism5/12 Gene Ontology (GO) molecular function terms (links to tree view) (see all 12
): About this table | Pathways & Interactions for DPYD
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
3 Sigma-Aldrich "Your Favorite Gene" Pathways for DPYD (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882Pathway: Amino-acid biosynthesis; beta-alanine biosynthesis Gene Network CentralTM Interacting Genes and Proteins Network for DPYD 
5/27 Interacting proteins for DPYD (ENSP000003592113) via UniProtKB, MINT, and/or STRING (see all 27
)About this table
5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
): About this table
|
Drugs & Compounds for DPYD(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for DPYD 10/42 Novoseek chemical compound relationships for DPYD gene (see all 42
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 5-chloro-2,4-dihydroxypyridine |
93.61 |
85 |
17940834 (3), 12739060 (2), 19093184 (2), 15949589 (2) (see all 29) |
| dihydrouracil |
92.85 |
35 |
7923135 (3), 14744810 (2), 8277507 (2), 15045945 (2) (see all 24) |
| (e)-5-(2-bromovinyl)uracil |
89.91 |
46 |
9164418 (4), 9808711 (3), 10725316 (3), 10779372 (2) (see all 12) |
| potassium oxonate |
89.25 |
23 |
15217941 (2), 14556932 (1), 12739060 (1), 15331922 (1) (see all 14) |
| pyrimidine |
82.11 |
104 |
15899693 (2), 15303009 (2), 11668512 (2), 9830621 (1) (see all 53) |
| 5-vinyluracil |
81.99 |
7 |
12866042 (2), 12617910 (1), 15073108 (1) |
| thymidine |
81.15 |
342 |
17993734 (4), 12910418 (2), 15538739 (2), 16012711 (2) (see all 99) |
| dihydrothymine |
79.49 |
5 |
9679586 (1), 12829003 (1), 9857238 (1), 17272486 (1) |
| alpha-fluoro-beta-alanine |
75.05 |
7 |
11896120 (1), 10545788 (1), 11106122 (1), 16369751 (1) (see all 5) |
| thymine |
73.98 |
47 |
16556484 (2), 10071185 (2), 9857238 (2), 1544906 (1) (see all 28) |
About this table
3 PharmGKB drug compound relationships for DPYD geneAbout this table
|
Transcripts for DPYD(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000110
Sigma-Aldrich siRNA and siRNA Panels for DPYD  Sigma-Aldrich shRNA for DPYD  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000110 REFSEQ mRNAs for DPYD gene (2 alternative transcripts): NM_000110.3 NM_001160301.1 NM_000110               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000110                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000110                                  untagged cDNA clone in CMV expression vector: NM_000110  Additional cDNA sequence: AB003063.1 AK291217.1 AK297515.1 BC008379.1 BC064027.1 BC108742.1 BC131777.1 BC131778.1 BT006740.1 CR590314.1 CR607436.1 U09178.1 U20938.1 10 DOTS entries: DT.112203 DT.92427124 DT.121366027 DT.451691 DT.100722198 DT.100778995 DT.121366025 DT.91744203 DT.91983122 DT.95168350 24/111 AceView cDNA sequences (see all 111
):AI798067 CR607436 U20938 CA441327 CD723498 AB003063 CB241720 BQ428238 CD723572 BM474131 BX281533 BU146366 AL045199 BX486224 AL702440 AI168714 CR590314 AA402686 AI480415 AA402835 BX339757 AL533024 BG024298 BX339758
highest scoring ESTs for DPYD:U20938 AB003063 AI752078 AL533024 AU076411 AU098568 BC008379 BC064027 BE889239 BE961084 Unigene Cluster for DPYD: Dihydropyrimidine dehydrogenase Hs.335034 [show with all ESTs]Unigene Representative Sequence: NM_000110
GeneLoc Exon Structure
4 Ensembl transcripts including schematic representations: ENST00000370192
ENST00000394160
ENST00000306031
ENST00000370191
|
Expression for DPYD
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| DPYD expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for DPYD
1 / 2 / 3 5 probe-sets matching DPYD gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCATCTTCAA
SOURCE GeneReport for Unigene cluster: Hs.335034
Expression variation in blood from EXPOLDB for DPYD UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882Tissue specificity: Found in most tissues with greatest activity found in liver and peripheral blood mononuclear cells |
Orthologs for DPYD
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for DPYD gene from 5/15 species (see all 15
)
About this table Species with no ortholog for DPYD
ENSEMBL Gene Tree for DPYD | Paralogs for DPYD(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for DPYD(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for DPYD (up to first 250kb)
|
Disorders & Mutations for DPYD
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 612779 disorders: 274270 274270 UniProtKB/Swiss-Prot: DPYD_HUMAN, Q12882
Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) [MIM:274270]; also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease 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. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma10/75 Novoseek disease relationships for DPYD gene (see all 75
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| colorectal cancer |
79.87 |
279 |
15069545 (6), 9951876 (5), 16786143 (5), 15820075 (4) (see all 99) |
| pyrimidine metabolism disorder |
78.89 |
1 |
10750737 (1) |
| gastric cancer |
72.17 |
117 |
19102414 (4), 10697632 (4), 11865631 (3), 10744051 (3) (see all 46) |
| recurrent gastric cancer |
70.19 |
4 |
16835493 (1), 18690094 (1) |
| cancer |
65.54 |
313 |
11729480 (6), 15330204 (6), 12722680 (6), 9323539 (4) (see all 99) |
| gastrointestinal carcinoma |
64.02 |
7 |
11862480 (2), 16619549 (1), 17848752 (1) |
| orotic aciduria |
61.24 |
1 |
8581129 (1) |
| tumors |
60.79 |
577 |
14744539 (8), 15015608 (7), 15309506 (6), 16786143 (6) (see all 99) |
| enzyme deficiency |
56.49 |
5 |
9280881 (2), 17397246 (1), 12912951 (1), 18937829 (1) |
| mucositis |
56.32 |
8 |
18299612 (2), 9732227 (1), 10473079 (1), 16965690 (1) (see all 6) |
About this table
5 PharmGKB disease relationships for DPYD geneAbout this table
Genatlas disease: DPYD thymine-uraciluria,with convulsive disorders of variable clinical expression,motor and mental retardation,mild or quite severe,hereditary and sensitivity to fluorouracyl in heterozygotes Human Gene Mutation Database: DPYD Genetic Association Database: DPYD Human Genome Epidemiology Navigator: DPYD (40 documents)
|
Medical News for DPYD(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for DPYD (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/657 PubMed articles for DPYD gene (see all 657
):- High prevalence of the IVS14 + 1G>A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity. (PubMed id 12360106)3, 6, 7 Van Kuilenburg A.B....Van Gennip A.H. (2002)
- Dihydropyrimidine dehydrogenase pharmacogenetics in the Taiwanese population. (PubMed id 15132136)1, 3, 6 Hsiao H.H....Lin S.F. (2004)
- Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation. (PubMed id 12209976)1, 3, 6 Van Kuilenburg A.B....Van Gennip A.H. (2002)
- Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin. (PubMed id 9170156)1, 3, 4 Fernandez-Salguero P.M.... Gonzalez F.J. (1997)
- Mutations in exon 14 of dihydropyrimidine dehydrogenase and 5-Fluorouracil toxicity in Portuguese colorectal cancer patients. (PubMed id 15017333)1, 3, 6 Salgueiro N....Castedo S. (2004)
- Germline mutation of dihydropyrimidine dehydrogenese gene among a Japanese population in relation to toxicity to 5-Fluorouracil. (PubMed id 11267945)1, 3, 6 Yamaguchi K....Akagi K. (2001)
- [Mutations in the dihydropyrimidine dehydrogenase gene and their role in 5-fluororuracil intolerance] (PubMed id 12822071)1, 3, 6 Gross E....Kiechle M. (2002)
- Suicidal inactivation of human dihydropyrimidine dehydrogenase by (E)-5-(2-bromovinyl)uracil derived from the antiviral, sorivudine. (PubMed id 9464498)1, 3, 4 Ogura K.... Watabe T. (1998)
- Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W. (PubMed id 9439663)1, 3, 4 Vreken P.... van Gennip A.H. (1997)
- Structural organization of the human dihydropyrimidine dehydrogenase gene. (PubMed id 9135003)1, 3, 4 Johnson M.R.... Diasio R.B. (1997)
|
Search for DPYD
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing DPYD
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing DPYD
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DPYD(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for DPYD(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for DPYD:

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