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Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000110 Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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RefSeq Version NM_000110.3, 119943097
Length 4451 bp
Structure linear
Update Date 17-APR-2013
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, May 2009].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_000101.2
CDS 138..3215
Misc Feature(1)37
Misc Feature(2)37
Misc Feature(3)294..1676
Misc Feature(4)294..1676
Misc Feature(5)717..>851
Misc Feature(6)1287..1289
Misc Feature(7)1731..2681
Misc Feature(8)1731..2639
Misc Feature(9)order(1791..1796,1806..1814,1818..1823,1884..1892,
Misc Feature(10)order(1857..1862,1905..1907,1962..1964,1968..1970,
Misc Feature(11)order(1857..1859,1905..1907,1962..1964,1968..1970,
Misc Feature(12)order(1962..1964,1968..1970,2139..2141,2145..2147,
Misc Feature(13)2139..2147
Misc Feature(14)2343..2348
Misc Feature(15)2979..3128
Exon (1)1..176
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (2)177..287
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (3)288..370
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (4)371..458
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (5)459..620
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (6)621..817
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (7)818..899
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (8)900..987
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (9)988..1095
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (10)1096..1265
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (11)1266..1476
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (12)1477..1661
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (13)1662..1877
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (14)1878..2042
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (15)2043..2111
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (16)2112..2195
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (17)2196..2316
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (18)2317..2436
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (19)2437..2579
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (20)2580..2759
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (21)2760..2903
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (22)2904..3044
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
Exon (23)3045..4448
Gene:DPYD
Gene Synonym:DHP; DHPDHASE; DPD
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(183)-dbSNP:
complement(183)-g, cdbSNP:150036960
complement(198)-g, adbSNP:72549310
complement(199)-t, cdbSNP:80081766
222+c, tdbSNP:1801265
complement(302)-dbSNP:
complement(302)-t, cdbSNP:139126323
complement(323)-g, adbSNP:181215161
complement(345)-g, adbSNP:141597515
complement(357)-g, adbSNP:189768576
complement(395)-dbSNP:
complement(395)-t, cdbSNP:201841475
complement(411)-g, cdbSNP:143986398
complement(439)-, atgadbSNP:72549309
complement(450)-t, cdbSNP:150385342
complement(480)-dbSNP:
complement(480)-t, cdbSNP:141462178
complement(581)-t, cdbSNP:56108357
complement(588)-t, cdbSNP:200562975
complement(600)-g, adbSNP:201443458
complement(611)-g, adbSNP:190771411
complement(633)-dbSNP:
complement(633)-t, cdbSNP:2297595
complement(635)-t, cdbSNP:139834141
complement(662)-t, cdbSNP:6670886
complement(694)-t, cdbSNP:115232898
complement(707)-g, adbSNP:149843476
complement(738)-t, gdbSNP:72549308
complement(769)-t, cdbSNP:72549307
complement(776)-g, adbSNP:190048823
complement(798)-c, adbSNP:146170505
complement(840)-dbSNP:
complement(840)-t, cdbSNP:1801266
complement(848)-t, cdbSNP:139863300
complement(893)-g, adbSNP:6675198
complement(909)-dbSNP:
complement(909)-t, cdbSNP:141726921
complement(912)-t, cdbSNP:45589337
complement(944)-g, adbSNP:200702346
complement(1005)-dbSNP:
complement(1005)-t, cdbSNP:146356975
complement(1013)-g, adbSNP:187484874
complement(1030)-t, gdbSNP:143879757
complement(1031)-t, cdbSNP:61758443
complement(1047)-g, adbSNP:183105782
complement(1066)-g, adbSNP:150437414
complement(1071)-g, adbSNP:145112791
complement(1104)-dbSNP:
complement(1104)-t, cdbSNP:201018345
complement(1112)-g, adbSNP:141376128
complement(1140)-c, adbSNP:72549306
complement(1161)-t, cdbSNP:183385770
complement(1172)-t, cdbSNP:1042478
complement(1191)-g, cdbSNP:190577302
complement(1194)-g, adbSNP:143154602
complement(1211)-t, adbSNP:1042479
complement(1245)-t, cdbSNP:72549305
complement(1257)-g, adbSNP:201785202
complement(1266)-dbSNP:
complement(1266)-t, cdbSNP:144935781
complement(1269)-g, cdbSNP:201648613
complement(1271)-g, adbSNP:1126741
complement(1277)-g, adbSNP:150759598
complement(1293)-c, adbSNP:78060119
complement(1317)-g, adbSNP:140602333
complement(1318)-c, adbSNP:143815742
complement(1355)-t, cdbSNP:61622928
complement(1366)-t, cdbSNP:199646142
complement(1373)-t, cdbSNP:56038477
complement(1391)-t, cdbSNP:141370079
complement(1397)-t, adbSNP:200064537
complement(1415)-c, adbSNP:140624731
complement(1417)-g, adbSNP:200693895
complement(1431)-t, cdbSNP:142512579
complement(1451)-c, adbSNP:186169810
complement(1474)-t, gdbSNP:200709381
complement(1486)-dbSNP:
complement(1486)-g, adbSNP:72975710
complement(1495)-g, cdbSNP:144395748
complement(1508)-g, adbSNP:57918000
complement(1540)-t, gdbSNP:199549923
complement(1584)-t, cdbSNP:141439344
complement(1612)-g, adbSNP:72549304
complement(1621)-t, cdbSNP:111858276
complement(1631)-t, cdbSNP:116364703
complement(1655)-g, adbSNP:201166313
complement(1656)-t, cdbSNP:138391898
complement(1680)-dbSNP:
complement(1680)-t, cdbSNP:148994843
complement(1697)-t, cdbSNP:138979515
complement(1714)-g, cdbSNP:190951787
complement(1724)-g, adbSNP:140125782
complement(1738)-g, adbSNP:1801158
complement(1752)-t, cdbSNP:142619737
complement(1764)-g, adbSNP:1801159
complement(1782)-g, cdbSNP:140039091
complement(1787)-g, adbSNP:149101842
complement(1816)-t, c, adbSNP:55886062
complement(1819)-c, adbSNP:201615754
complement(1821)-t, gdbSNP:146363801
complement(1838)-t, adbSNP:148372305
complement(1911)-dbSNP:
complement(1911)-g, adbSNP:59086055
complement(1912)-t, cdbSNP:138616379
complement(1914)-t, cdbSNP:145773863
complement(1933)-g, adbSNP:147601618
complement(1973)-t, gdbSNP:151216654
complement(2002)-t, cdbSNP:201433243
complement(2033)-g, adbSNP:17376848
complement(2035)-, cdbSNP:72549303
complement(2038)-t, cdbSNP:200296941
complement(2042)-t, g, cdbSNP:3918289
complement(2043)-dbSNP:
complement(2043)-t, gdbSNP:55971861
complement(2127)-dbSNP:
complement(2127)-c, adbSNP:138545885
complement(2158)-t, cdbSNP:137999090
complement(2176)-g, adbSNP:187713395
complement(2186)-g, cdbSNP:183475941
complement(2197)-dbSNP:
complement(2197)-t, gdbSNP:148856477
complement(2208)-c, adbSNP:202212118
complement(2298)-t, cdbSNP:145548112
complement(2323)-dbSNP:
complement(2323)-g, adbSNP:146529561
complement(2330)-g, adbSNP:139543981
complement(2331)-g, adbSNP:1801160
complement(2332)-c, adbSNP:60511679
complement(2416)-g, adbSNP:112766203
complement(2440)-dbSNP:
complement(2440)-t, gdbSNP:56005131
complement(2461)-c, adbSNP:200643089
complement(2473)-t, gdbSNP:199634007
complement(2520)-t, cdbSNP:147800606
complement(2555)-g, adbSNP:144271454
complement(2558)-g, adbSNP:55725052
complement(2615)-dbSNP:
complement(2615)-g, cdbSNP:201575324
complement(2619)-t, cdbSNP:200687447
complement(2622)-t, cdbSNP:199777072
complement(2719)-t, cdbSNP:60139309
complement(2760)-dbSNP:
complement(2760)-t, gdbSNP:201035051
complement(2776)-c, adbSNP:55674432
complement(2793)-g, adbSNP:147545709
complement(2794)-g, adbSNP:1801267
complement(2815)-t, cdbSNP:188052243
complement(2943)-dbSNP:
complement(2943)-c, adbSNP:137878450
complement(2983)-t, adbSNP:67376798
complement(3009)-t, cdbSNP:141044036
complement(3052)-dbSNP:
complement(3052)-t, cdbSNP:145529148
complement(3058)-t, adbSNP:72547602
complement(3070)-t, cdbSNP:72547601
complement(3071)-t, gdbSNP:201268750
complement(3085)-g, adbSNP:61757362
complement(3114)-g, adbSNP:202144771
complement(3115)-c, adbSNP:139459586
complement(3118)-g, cdbSNP:140989814
complement(3120)-t, gdbSNP:1801268
complement(3135)-t, cdbSNP:151074666
complement(3186)-t, cdbSNP:140114515
complement(3198)-g, cdbSNP:148799944
complement(3204)-t, gdbSNP:114096998
complement(3320)-g, adbSNP:184161277
complement(3322)-g, adbSNP:150499371
complement(3374)-t, cdbSNP:55938520
complement(3489)-g, adbSNP:56160474
complement(3523)-t, cdbSNP:111295312
complement(3543)-g, adbSNP:192715981
complement(3647)-t, adbSNP:188501488
complement(3650)-t, adbSNP:1042480
complement(3681)-c, adbSNP:2635723
complement(3770..3771)-, gdbSNP:34856860
complement(3775)-g, adbSNP:1042481
complement(3788)-g, adbSNP:1042482
complement(3827)-t, cdbSNP:75542363
complement(3983)-g, adbSNP:291592
complement(3995)-t, cdbSNP:291593
complement(3998)-c, adbSNP:137984871
complement(4115)-g, adbSNP:17470762
complement(4123)-c, adbSNP:55696854
complement(4261)-t, gdbSNP:55992536
complement(4277)-t, cdbSNP:41285690
complement(4309)-t, cdbSNP:55921233
complement(4383)-g, adbSNP:113520437
Gene SymbolDPYD
Gene SynonymDHP; DHPDHASE; DPD
Chromosome1
Locus Map1p22
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000110 Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. On-demand $1699.00 25
NM_001160301 Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 2, mRNA. In-stock $308.00 $259.00 10
Title Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder .
Author Bergen,S.E., O'Dushlaine,C.T., Ripke,S., Lee,P.H., Ruderfer,D.M., Akterin,S., Moran,J.L., Chambert,K.D., Handsaker,R.E., Backlund,L., Osby,U., McCarroll,S., Landen,M., Scolnick,E.M., Magnusson,P.K., Lichtenstein,P., Hultman,C.M., Purcell,S.M., Sklar,P. and Sullivan,P.F.
Journal Mol. Psychiatry 17 (9), 880-886 (2012)
Title Expression of dihydropyrimidine dehydrogenase, orotate phosphoribosyl transferase and thymidylate synthase in patients with primary colorectal cancer, and associations with site of first metastasis .
Author Akagi,Y., Kinugasa,T., Mizobe,T., Kawahara,A., Kage,M. and Shirouzu,K.
Journal Anticancer Res. 32 (6), 2277-2282 (2012)
Title Expression levels of thymidylate synthase, dihydropyrimidine dehydrogenase, and thymidine phosphorylase in patients with colorectal cancer .
Author Goto,T., Shinmura,K., Yokomizo,K., Sakuraba,K., Kitamura,Y., Shirahata,A., Saito,M., Kigawa,G., Nemoto,H., Sanada,Y. and Hibi,K.
Journal Anticancer Res. 32 (5), 1757-1762 (2012)
Title [Review of methods for determination of dihydropyrimidine dehydrogenase and possible application in screening previous chemotheraphy with 5-fluorouracil] .
Author Ostapowicz,A. and Dolegowska,B.
Journal Prz. Lek. 69 (9), 694-697 (2012)
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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