Sequence in raw or FASTA format:
Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.
| RefSeq Version | NM_000110.3, 119943097 |
| Length | 4451 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. |
| Product | dihydropyrimidine dehydrogenase [NADP+] isoform 1 |
| Comment | 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_000101.2 |
| CDS | 138..3215 | Exon (1) | 1..176 | Exon (2) | 1..176 | Exon (3) | 177..287 | Exon (4) | 288..370 | Exon (5) | 371..458 | Exon (6) | 459..620 | Exon (7) | 621..817 | Exon (8) | 818..899 | Exon (9) | 900..987 | Exon (10) | 988..1095 | Exon (11) | 1096..1265 | Exon (12) | 1266..1476 | Exon (13) | 1477..1661 | Exon (14) | 1662..1877 | Exon (15) | 1878..2042 | Exon (16) | 2043..2111 | Exon (17) | 2112..2195 | Exon (18) | 2196..2316 | Exon (19) | 2317..2436 | Exon (20) | 2437..2579 | Exon (21) | 2580..2759 | Exon (22) | 2760..2903 | Exon (23) | 2904..3044 | Exon (24) | 3045..4448 |
| Translation | MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFD
DIKHTTLGERGALREAMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDN
PLGLTCGMVCPTSDLCVGGCNLYATEEGPINIGGLQQFATEVFKAMSIPQIRNPSLPPPE
KMSEAYSAKIALFGAGPASISCASFLARLGYSDITIFEKQEYVGGLSTSEIPQFRLPYDV
VNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAFIGIGLPEPNKDAIFQGLTQD
QGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATSALRCGARRVF
IVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWN
EDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGG
DVVGLANTTVESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGL
KFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMY
GPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDS
GADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSI
ARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTS
IARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYL
KSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQ
NVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCY
MTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLS
VNPVC
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| Position | Chain | Variation | Link |
| complement(23) | - | g, a | dbSNP:74452328 |
| complement(198) | - | g, a | dbSNP:72549310 |
| complement(199) | - | t, c | dbSNP:80081766 |
| 222 | + | c, t | dbSNP:1801265 |
| complement(435) | - | , atga | dbSNP:72549309 |
| complement(581) | - | t, c | dbSNP:56108357 |
| complement(633) | - | t, c | dbSNP:2297595 |
| complement(662) | - | t, c | dbSNP:6670886 |
| complement(694) | - | t, c | dbSNP:115232898 |
| complement(738) | - | t, g | dbSNP:72549308 |
| complement(769) | - | t, c | dbSNP:72549307 |
| complement(776) | - | g, a | dbSNP:116932384 |
| 840 | + | c, t | dbSNP:1801266 |
| complement(893) | - | g, a | dbSNP:6675198 |
| complement(912) | - | t, c | dbSNP:45589337 |
| complement(1031) | - | t, c | dbSNP:61758443 |
| complement(1140) | - | c, a | dbSNP:72549306 |
| 1172 | + | c, t | dbSNP:1042478 |
| 1211 | + | a, t | dbSNP:1042479 |
| complement(1245) | - | t, c | dbSNP:72549305 |
| complement(1293) | - | c, a | dbSNP:78060119 |
| complement(1355) | - | t, c | dbSNP:61622928 |
| complement(1373) | - | t, c | dbSNP:56038477 |
| complement(1486) | - | g, a | dbSNP:72975710 |
| complement(1508) | - | g, a | dbSNP:57918000 |
| complement(1612) | - | g, a | dbSNP:72549304 |
| complement(1621) | - | t, c | dbSNP:111858276 |
| complement(1631) | - | t, c | dbSNP:116364703 |
| 1738 | + | a, g | dbSNP:1801158 |
| 1764 | + | a, g | dbSNP:1801159 |
| complement(1816) | - | t, a | dbSNP:55886062 |
| complement(1911) | - | g, a | dbSNP:59086055 |
| complement(2033) | - | g, a | dbSNP:17376848 |
| 2035 | + | , c | dbSNP:72549303 |
| 2042 | + | c, t | dbSNP:3918289 |
| complement(2043) | - | t, g | dbSNP:55971861 |
| 2331 | + | a, g | dbSNP:1801160 |
| complement(2332) | - | c, a | dbSNP:60511679 |
| complement(2416) | - | g, a | dbSNP:112766203 |
| complement(2440) | - | t, g | dbSNP:56005131 |
| complement(2558) | - | g, a | dbSNP:55725052 |
| complement(2719) | - | t, c | dbSNP:60139309 |
| complement(2776) | - | c, a | dbSNP:55674432 |
| 2794 | + | a, c, g, t | dbSNP:1801267 |
| complement(2983) | - | t, a | dbSNP:67376798 |
| 3058 | + | a, t | dbSNP:72547602 |
| complement(3070) | - | t, c | dbSNP:72547601 |
| complement(3085) | - | g, a | dbSNP:61757362 |
| 3120 | + | g, t | dbSNP:1801268 |
| complement(3204) | - | t, g | dbSNP:114096998 |
| complement(3374) | - | t, c | dbSNP:55938520 |
| complement(3489) | - | g, a | dbSNP:56160474 |
| complement(3523) | - | t, c | dbSNP:111295312 |
| 3650 | + | a, t | dbSNP:1042480 |
| 3681 | + | a, c | dbSNP:2635723 |
| complement(3749) | - | t, c | dbSNP:78612135 |
| complement(3770..3771) | - | , g | dbSNP:34856860 |
| 3775 | + | a, g | dbSNP:1042481 |
| 3788 | + | a, g | dbSNP:1042482 |
| complement(3827) | - | t, c | dbSNP:75542363 |
| 3983 | + | a, g | dbSNP:291592 |
| 3995 | + | c, t | dbSNP:291593 |
| complement(4115) | - | g, a | dbSNP:17470762 |
| complement(4123) | - | c, a | dbSNP:55696854 |
| complement(4261) | - | t, g | dbSNP:55992536 |
| complement(4277) | - | t, c | dbSNP:41285690 |
| complement(4309) | - | t, c | dbSNP:55921233 |
| complement(4383) | - | g, a | dbSNP:113520437 |
| Gene Symbol | DPYD |
| Gene Synonym | DHP; DHPDHASE; DPD; MGC132008; MGC70799 |
| Chromosome | 1 |
| Locus Map | 1p22 |
| All Transcripts | NM_000110 , NM_001160301 |
| Title | Multiple genetic polymorphisms in the prediction of clinical outcome of metastatic colorectal cancer patients treated with first-line FOLFOX-4 chemotherapy . |
| Author | Huang,M.Y., Huang,M.L., Chen,M.J., Lu,C.Y., Chen,C.F., Tsai,P.C., Chuang,S.C., Hou,M.F., Lin,S.R. and Wang,J.Y. |
| Journal | Pharmacogenet. Genomics 21 (1), 18-25 (2011) |
| Title | Low thymidylate synthase, thymidine phosphorylase, and dihydropyrimidine dehydrogenase mRNA expression correlate with prolonged survival in resected non-small-cell lung cancer . |
| Author | Grimminger,P.P., Schneider,P.M., Metzger,R., Vallbohmer,D., Holscher,A.H., Danenberg,P.V. and Brabender,J. |
| Journal | Clin Lung Cancer 11 (5), 328-334 (2010) |
| Title | Variants in the dihydropyrimidine dehydrogenase, methylenetetrahydrofolate reductase and thymidylate synthase genes predict early toxicity of 5-fluorouracil in colorectal cancer patients . |
| Author | Kristensen,M.H., Pedersen,P.L., Melsen,G.V., Ellehauge,J. and Mejer,J. |
| Journal | J. Int. Med. Res. 38 (3), 870-883 (2010) |
| Title | Promoter methylation and large intragenic rearrangements of DPYD are not implicated in severe toxicity to 5-fluorouracil-based chemotherapy in gastrointestinal cancer patients . |
| Author | Savva-Bordalo,J., Ramalho-Carvalho,J., Pinheiro,M., Costa,V.L., Rodrigues,A., Dias,P.C., Veiga,I., Machado,M., Teixeira,M.R., Henrique,R. and Jeronimo,C. |
| Journal | BMC Cancer 10, 470 (2010) |
| Title | Molecular cloning and characterization of the human dihydropyrimidine dehydrogenase promoter . |
| Author | Shestopal,S.A., Johnson,M.R. and Diasio,R.B. |
| Journal | Biochim. Biophys. Acta 1494 (1-2), 162-169 (2000) |
| Title | Structural organization of the human dihydropyrimidine dehydrogenase gene . |
| Author | Johnson,M.R., Wang,K., Tillmanns,S., Albin,N. and Diasio,R.B. |
| Journal | Cancer Res. 57 (9), 1660-1663 (1997) |
| Title | Purification and characterization of dihydropyrimidine dehydrogenase from human liver . |
| Author | Lu,Z.H., Zhang,R. and Diasio,R.B. |
| Journal | J. Biol. Chem. 267 (24), 17102-17109 (1992) |
| Title | Mechanism-based inactivation of dihydropyrimidine dehydrogenase by 5-ethynyluracil . |
| Author | Porter,D.J., Chestnut,W.G., Merrill,B.M. and Spector,T. |
| Journal | J. Biol. Chem. 267 (8), 5236-5242 (1992) |
| Title | Dihydropyrimidine dehydrogenase activity in human blood mononuclear cells . |
| Author | Tuchman,M., Roemeling,R.V., Hrushesky,W.A., Sothern,R.B. and O'Dea,R.F. |
| Journal | Enzyme 42 (1), 15-24 (1989) |
| Title | Familial deficiency of dihydropyrimidine dehydrogenase. Biochemical basis for familial pyrimidinemia and severe 5-fluorouracil-induced toxicity . |
| Author | Diasio,R.B., Beavers,T.L. and Carpenter,J.T. |
| Journal | J. Clin. Invest. 81 (1), 47-51 (1988) |
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