LOCUS NP_000101 1025 aa linear PRI 16-NOV-2008
DEFINITION dihydropyrimidine dehydrogenase [Homo sapiens].
ACCESSION NP_000101
VERSION NP_000101.2 GI:119943098
DBSOURCE REFSEQ: accession NM_000110.3
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1025)
AUTHORS Amstutz,U., Farese,S., Aebi,S. and Largiader,C.R.
TITLE Hypermethylation of the DPYD promoter region is not a major
predictor of severe toxicity in 5-fluororuacil based chemotherapy
JOURNAL J. Exp. Clin. Cancer Res. 27 (1), 54 (2008)
PUBMED 18937829
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 1025)
AUTHORS Grau,J.J., Caballero,M., Monzo,M., Munoz-Garcia,C.,
Domingo-Domenech,J., Navarro,A., Conill,C., Campayo,M. and
Bombi,J.A.
TITLE Dihydropyrimidine dehydrogenases and cytidine-deaminase gene
polymorphisms as outcome predictors in resected gastric cancer
patients treated with fluoropyrimidine adjuvant chemotherapy
JOURNAL J Surg Oncol 98 (2), 130-134 (2008)
PUBMED 18537153
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 3 (residues 1 to 1025)
AUTHORS He,Y.F., Wei,W., Zhang,X., Li,Y.H., Li,S., Wang,F.H., Lin,X.B.,
Li,Z.M., Zhang,D.S., Huang,H.Q., Hu,B. and Jiang,W.Q.
TITLE Analysis of the DPYD gene implicated in 5-fluorouracil catabolism
in Chinese cancer patients
JOURNAL J Clin Pharm Ther 33 (3), 307-314 (2008)
PUBMED 18452418
REMARK GeneRIF: Observational study of gene-disease association,
gene-environment interaction, and pharmacogenomic / toxicogenomic.
(HuGE Navigator)
REFERENCE 4 (residues 1 to 1025)
AUTHORS Sulzyc-Bielicka,V., Binczak-Kuleta,A., Pioch,W., Kladny,J.,
Gziut,K., Bielicki,D. and Ciechanowicz,A.
TITLE 5-Fluorouracil toxicity-attributable IVS14 + 1G > A mutation of the
dihydropyrimidine dehydrogenase gene in Polish colorectal cancer
patients
JOURNAL Pharmacol Rep 60 (2), 238-242 (2008)
PUBMED 18443386
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 5 (residues 1 to 1025)
AUTHORS Shestopal,S.A., Johnson,M.R. and Diasio,R.B.
TITLE Molecular cloning and characterization of the human
dihydropyrimidine dehydrogenase promoter
JOURNAL Biochim. Biophys. Acta 1494 (1-2), 162-169 (2000)
PUBMED 11072080
REFERENCE 6 (residues 1 to 1025)
AUTHORS Johnson,M.R., Wang,K., Tillmanns,S., Albin,N. and Diasio,R.B.
TITLE Structural organization of the human dihydropyrimidine
dehydrogenase gene
JOURNAL Cancer Res. 57 (9), 1660-1663 (1997)
PUBMED 9135003
REFERENCE 7 (residues 1 to 1025)
AUTHORS Lu,Z.H., Zhang,R. and Diasio,R.B.
TITLE Purification and characterization of dihydropyrimidine
dehydrogenase from human liver
JOURNAL J. Biol. Chem. 267 (24), 17102-17109 (1992)
PUBMED 1512248
REFERENCE 8 (residues 1 to 1025)
AUTHORS Porter,D.J., Chestnut,W.G., Merrill,B.M. and Spector,T.
TITLE Mechanism-based inactivation of dihydropyrimidine dehydrogenase by
5-ethynyluracil
JOURNAL J. Biol. Chem. 267 (8), 5236-5242 (1992)
PUBMED 1544906
REFERENCE 9 (residues 1 to 1025)
AUTHORS Tuchman,M., Roemeling,R.V., Hrushesky,W.A., Sothern,R.B. and
O'Dea,R.F.
TITLE Dihydropyrimidine dehydrogenase activity in human blood mononuclear
cells
JOURNAL Enzyme 42 (1), 15-24 (1989)
PUBMED 2528450
REFERENCE 10 (residues 1 to 1025)
AUTHORS Diasio,R.B., Beavers,T.L. and Carpenter,J.T.
TITLE Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical
basis for familial pyrimidinemia and severe 5-fluorouracil-induced
toxicity
JOURNAL J. Clin. Invest. 81 (1), 47-51 (1988)
PUBMED 3335642
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA721123.1, U20938.1 and
AI124948.1.
On Dec 25, 2006 this sequence version replaced gi:4503373.
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. [provided by RefSeq].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..1025
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p22"
Protein 1..1025
/product="dihydropyrimidine dehydrogenase"
/EC_number="1.3.1.2"
/note="dihydrouracil dehydrogenase; dihydrothymine
dehydrogenase"
/calculated_mol_wt=111271
CDS 1..1025
/gene="DPYD"
/gene_synonym="DHP"
/gene_synonym="DPD"
/gene_synonym="DHPDHASE"
/gene_synonym="MGC70799"
/gene_synonym="MGC132008"
/coded_by="NM_000110.3:138..3215"
/db_xref="CCDS:CCDS30777.1"
/db_xref="GeneID:1806"
/db_xref="HGNC:3012"
/db_xref="HPRD:02036"
/db_xref="MIM:274270"
ORIGIN
1 mapvlskdsa diesilalnp rtqthatlcs tsakkldkkh wkrnpdkncf nceklennfd
61 dikhttlger galreamrcl kcadapcqks cptnldiksf itsianknyy gaakmifsdn
121 plgltcgmvc ptsdlcvggc nlyateegpi nigglqqfat evfkamsipq irnpslpppe
181 kmseaysaki alfgagpasi scasflarlg ysditifekq eyvgglstse ipqfrlpydv
241 vnfeielmkd lgvkiicgks lsvnemtlst lkekgykaaf igiglpepnk daifqgltqd
301 qgfytskdfl plvakgskag mcachsplps irgvvivlga gdtafdcats alrcgarrvf
361 ivfrkgfvni ravpeemela keekceflpf lsprkvivkg grivamqfvr teqdetgkwn
421 ededqmvhlk advvisafgs vlsdpkvkea lspikfnrwg lpevdpetmq tseawvfagg
481 dvvglanttv esvndgkqas wyihkyvqsq ygasvsakpe lplfytpidl vdisvemagl
541 kfinpfglas atpatstsmi rrafeagwgf altktfsldk divtnvspri irgttsgpmy
601 gpgqssflni elisektaay wcqsvtelka dfpdnivias imcsynkndw telakkseds
661 gadalelnls cphgmgergm glacgqdpel vrnicrwvrq avqipffakl tpnvtdivsi
721 araakeggan gvtatntvsg lmglksdgtp wpavgiakrt tyggvsgtai rpialravts
781 iaralpgfpi latggidsae sglqflhsga svlqvcsaiq nqdftviedy ctglkallyl
841 ksieelqdwd gqspatvshq kgkpvpriae lmdkklpsfg pyleqrkkii aenkirlkeq
901 nvafsplkrn cfipkrpipt ikdvigkalq ylgtfgelsn veqvvamide emcincgkcy
961 mtcndsgyqa iqfdpethlp titdtctgct lclsvcpivd cikmvsrttp yepkrgvpls
1021 vnpvc
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