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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000053 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $1198.00 $1149.00 TBD

*Business Day

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RefSeq Version NM_000053.3, 342187240
Length 6655 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.
Product copper-transporting ATPase 2 isoform a
Comment

Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000044.2
CDS 158..4555
Misc Feature(1)338..529
Misc Feature(2)338..529
Misc Feature(3)order(356..364,371..373)
Misc Feature(4)593..784
Misc Feature(5)order(611..619,626..628)
Misc Feature(6)935..1111
Misc Feature(7)order(953..961,968..970)
Misc Feature(8)1244..1432
Misc Feature(9)order(1259..1267,1274..1276)
Misc Feature(10)1631..1819
Misc Feature(11)order(1646..1654,1661..1663)
Misc Feature(12)1856..2047
Misc Feature(13)order(1874..1882,1889..1891)
Misc Feature(14)2117..2182
Misc Feature(15)2249..2308
Misc Feature(16)2285..4222
Misc Feature(17)2330..2392
Misc Feature(18)2450..2512
Misc Feature(19)2462..3205
Misc Feature(20)2915..2983
Misc Feature(21)3074..3139
Misc Feature(22)3692..4009
Misc Feature(23)order(3704..3712,3815..3820)
Misc Feature(24)3704..3721
Misc Feature(25)3815..3817
Misc Feature(26)4124..4177
Misc Feature(27)4211..4270
Exon (1)1..208
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (2)209..1442
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (3)1443..1700
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (4)1701..1864
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (5)1865..2026
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (6)2027..2103
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (7)2104..2278
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (8)2279..2512
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (9)2513..2604
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (10)2605..2732
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (11)2733..2887
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (12)2888..3022
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (13)3023..3217
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (14)3218..3400
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (15)3401..3569
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (16)3570..3713
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (17)3714..3856
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (18)3857..4060
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (19)4061..4178
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (20)4179..4281
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Exon (21)4282..6642
Gene:ATP7B
Gene Synonym:PWD; WC1; WD; WND
Translation MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR HSAAADDDGDKWSLLLNGRDEEQYI
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Position Chain Variation Link
complement(30..31)-dbSNP:
complement(30..31)-, gcggcdbSNP:3832920
complement(30)-t, gdbSNP:73184332
complement(34..35)-, gcggcdbSNP:71779961
complement(39..40)-, cggcgdbSNP:148013251
complement(53)-g, adbSNP:71436268
complement(83)-t, gdbSNP:2277448
complement(84)-c, adbSNP:193922101
complement(104)-c, adbSNP:115564351
complement(107)-t, adbSNP:140622583
complement(127)-g, adbSNP:184427928
complement(219)-dbSNP:
complement(219)-t, cdbSNP:199514391
complement(255)-g, adbSNP:184868522
complement(279)-t, cdbSNP:201738967
complement(383)-t, cdbSNP:200642204
complement(504)-g, adbSNP:199773340
complement(523)-c, adbSNP:201778204
complement(568)-c, adbSNP:181154454
complement(590)-t, gdbSNP:183365083
complement(602)-t, cdbSNP:200606656
complement(654)-t, cdbSNP:150490315
complement(707)-t, cdbSNP:199634511
complement(767)-t, cdbSNP:200605351
complement(785)-t, cdbSNP:61733680
complement(821)-t, cdbSNP:200866801
complement(827)-t, adbSNP:200563529
complement(834)-t, cdbSNP:201522558
complement(851)-g, adbSNP:201388026
complement(853)-t, cdbSNP:202171959
complement(905)-t, cdbSNP:192444554
complement(1002)-, tdbSNP:193922111
complement(1022)-t, cdbSNP:121907999
complement(1052)-t, cdbSNP:146791250
complement(1154)-t, cdbSNP:200356895
complement(1193)-g, adbSNP:201200863
complement(1206)-g, adbSNP:201855906
complement(1212)-t, gdbSNP:199922748
complement(1270)-t, cdbSNP:187481935
complement(1279)-g, cdbSNP:201254466
complement(1313)-t, cdbSNP:201969695
complement(1319)-t, cdbSNP:187209079
complement(1330)-t, cdbSNP:200431213
complement(1339)-g, cdbSNP:201874048
complement(1355)-t, cdbSNP:199807461
complement(1372)-g, adbSNP:201020290
complement(1373)-t, gdbSNP:1801243
complement(1435)-g, adbSNP:143556945
complement(1448)-dbSNP:
complement(1448)-g, adbSNP:145173864
complement(1508)-t, cdbSNP:186300062
complement(1519)-t, cdbSNP:150018860
complement(1523)-g, cdbSNP:1801244
complement(1532)-c, adbSNP:183044693
complement(1583)-t, cdbSNP:139289704
complement(1649)-t, adbSNP:191631804
complement(1653)-g, cdbSNP:61733681
complement(1712)-dbSNP:
complement(1712)-t, cdbSNP:192957846
complement(1741)-t, cdbSNP:199703505
complement(1764)-g, adbSNP:138427376
complement(1777)-g, adbSNP:145798966
complement(1778)-t, cdbSNP:187046823
complement(1823)-t, cdbSNP:200212457
complement(1834)-g, adbSNP:142187604
complement(1843)-g, adbSNP:138962570
complement(1844)-t, cdbSNP:199875471
complement(1882)-dbSNP:
complement(1882)-g, adbSNP:201925666
complement(1885)-t, cdbSNP:116703544
complement(2039)-dbSNP:
complement(2039)-g, adbSNP:145516481
complement(2067)-t, cdbSNP:61733683
complement(2072)-g, adbSNP:200728096
complement(2079)-g, adbSNP:186924074
complement(2081)-g, cdbSNP:72552285
complement(2091)-t, gdbSNP:121907998
complement(2150)-dbSNP:
complement(2150)-t, cdbSNP:146303208
complement(2151)-c, adbSNP:182653713
complement(2152)-g, adbSNP:72552259
complement(2186)-t, cdbSNP:2277447
complement(2228)-g, adbSNP:121908001
complement(2280)-dbSNP:
complement(2280)-t, cdbSNP:121908000
complement(2285)-g, adbSNP:137853285
complement(2331)-t, cdbSNP:115227204
complement(2332)-t, cdbSNP:61733684
complement(2353)-g, adbSNP:201213995
complement(2446)-t, cdbSNP:186097711
complement(2450)-g, adbSNP:28942075
complement(2454)-g, cdbSNP:121907997
complement(2455..2456)-, cdbSNP:137853287
complement(2462)-g, adbSNP:193922103
complement(2489)-g, cdbSNP:137853284
complement(2490)-t, gdbSNP:28942074
complement(2493)-g, adbSNP:137853283
complement(2494)-g, adbSNP:137853282
complement(2552)-dbSNP:
complement(2552)-t, gdbSNP:78253195
complement(2642)-dbSNP:
complement(2642)-t, cdbSNP:181388674
complement(2652)-g, adbSNP:1061472
complement(2659)-g, cdbSNP:188903683
complement(2666)-t, gdbSNP:183519418
complement(2701)-g, adbSNP:200996053
complement(2762)-dbSNP:
complement(2762)-t, cdbSNP:191312027
complement(2778)-t, cdbSNP:121907994
complement(2869)-t, cdbSNP:146232015
complement(2887)-t, cdbSNP:80145681
complement(2912)-dbSNP:
complement(2912)-t, g, cdbSNP:121907993
complement(2930)-c, adbSNP:77453130
complement(2934)-g, cdbSNP:185149827
complement(2962)-t, cdbSNP:141872590
complement(2984)-g, adbSNP:28942076
complement(3012)-g, adbSNP:732774
complement(3056)-dbSNP:
complement(3056)-t, adbSNP:60003608
complement(3063)-g, adbSNP:121907996
complement(3078)-g, adbSNP:201061621
complement(3087)-t, cdbSNP:72552255
complement(3110)-t, cdbSNP:193922104
complement(3112)-g, adbSNP:116587608
complement(3119)-g, cdbSNP:199623434
complement(3129)-g, adbSNP:41292782
complement(3130)-g, adbSNP:1801246
complement(3132)-g, adbSNP:201038679
complement(3135)-g, adbSNP:200290721
complement(3136)-t, cdbSNP:200656411
complement(3154)-g, cdbSNP:199581971
complement(3164)-t, cdbSNP:201497300
complement(3166)-g, adbSNP:1801247
complement(3172)-g, adbSNP:74085888
complement(3202)-g, adbSNP:1801248
complement(3211)-g, adbSNP:193922105
complement(3226)-dbSNP:
complement(3226)-g, adbSNP:187343742
complement(3258)-t, cdbSNP:74085882
complement(3262)-g, adbSNP:200324179
complement(3270)-t, cdbSNP:59959366
complement(3334)-g, cdbSNP:199542057
complement(3364)-t, gdbSNP:76151636
complement(3364)-t, gdbSNP:201738147
complement(3489)-dbSNP:
complement(3489)-t, cdbSNP:182659444
complement(3510)-t, cdbSNP:202233544
complement(3523)-t, cdbSNP:59120265
complement(3525)-g, adbSNP:146623472
complement(3526)-t, cdbSNP:61733679
complement(3557)-, cdbSNP:137853286
complement(3559)-g, adbSNP:145887771
complement(3559)-, cdbSNP:137853281
complement(3560)-t, cdbSNP:187200982
complement(3573)-dbSNP:
complement(3573)-g, cdbSNP:199924281
complement(3576)-t, cdbSNP:1801249
complement(3600)-g, adbSNP:60431989
complement(3622)-c, adbSNP:201985951
complement(3646)-t, cdbSNP:193922106
complement(3683)-t, g, adbSNP:137853279
complement(3740)-dbSNP:
complement(3740)-t, cdbSNP:202218969
complement(3745)-g, adbSNP:11840224
complement(3777)-t, cdbSNP:7334118
complement(3782)-t, gdbSNP:61957448
complement(3816)-t, cdbSNP:193922107
complement(3845)-t, cdbSNP:200911496
complement(3857)-dbSNP:
complement(3857)-t, gdbSNP:193922108
complement(3872)-c, adbSNP:185912036
complement(3953)-g, adbSNP:121907992
complement(3966)-g, adbSNP:121907990
complement(4031)-t, cdbSNP:200718740
complement(4042)-g, adbSNP:200597654
complement(4043)-t, cdbSNP:199821556
complement(4046)-t, cdbSNP:148399850
complement(4048)-g, adbSNP:114771537
complement(4112)-dbSNP:
complement(4112)-t, cdbSNP:193922109
complement(4130)-t, cdbSNP:182060222
complement(4156)-t, gdbSNP:186435141
complement(4195)-dbSNP:
complement(4195)-g, adbSNP:200582826
complement(4212)-g, adbSNP:113468879
complement(4215)-g, adbSNP:193922110
complement(4292)-dbSNP:
complement(4292)-g, adbSNP:181250704
complement(4332)-c, adbSNP:199821965
complement(4370)-t, cdbSNP:189601972
complement(4458)-g, adbSNP:60986317
complement(4459)-t, cdbSNP:116091486
complement(4463)-t, cdbSNP:148081616
complement(4468)-t, cdbSNP:73202048
complement(4476)-c, adbSNP:201483366
complement(4545)-t, gdbSNP:202131204
complement(4552)-t, gdbSNP:199859839
complement(4570)-g, adbSNP:73498144
complement(4571)-g, adbSNP:193922100
complement(4578)-c, adbSNP:201108784
complement(4674)-t, cdbSNP:184218772
complement(4703)-g, adbSNP:111901413
complement(4745)-t, gdbSNP:115420019
complement(4836)-t, cdbSNP:144358706
complement(5061)-g, cdbSNP:192584430
complement(5263)-t, cdbSNP:142281044
complement(5389)-t, cdbSNP:189181173
complement(5564)-t, cdbSNP:79747858
complement(5661)-g, adbSNP:184361144
complement(5673)-t, cdbSNP:74330211
complement(5727)-g, adbSNP:1051332
complement(5737)-g, adbSNP:79490882
complement(5795)-c, adbSNP:145132668
complement(5845)-t, cdbSNP:149956179
complement(5940)-t, cdbSNP:41292780
complement(6046)-t, cdbSNP:139053981
complement(6077)-t, cdbSNP:191892694
complement(6132)-g, adbSNP:188364702
complement(6214)-t, cdbSNP:113688195
complement(6224)-g, adbSNP:151138735
complement(6261)-t, cdbSNP:143285115
complement(6263)-t, cdbSNP:17076111
complement(6272)-c, adbSNP:77770386
complement(6299)-g, adbSNP:9535794
complement(6300)-t, cdbSNP:139850360
complement(6302)-t, cdbSNP:192653965
complement(6334)-g, cdbSNP:187959146
complement(6337)-g, cdbSNP:928169
complement(6360)-g, adbSNP:182439700
complement(6518..6519)-, tadbSNP:71704235
Gene SymbolATP7B
Gene SynonymPWD; WC1; WD; WND
Chromosome13
Locus Map13q14.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000053 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA. In-stock $1198.00 $1149.00 TBD
NM_001005918 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 2, mRNA. On-demand TBD TBD
NM_001243182 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 3, mRNA. On-demand $1699.00 25
Title A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease .
Author Dastsooz,H., Dehghani,S.M., Imanieh,M.H., Haghighat,M., Moini,M. and Fardaei,M.
Journal Gene 514 (1), 48-53 (2013)
Title Molecular events initiating exit of a copper-transporting ATPase ATP7B from the trans-Golgi network .
Author Hasan,N.M., Gupta,A., Polishchuk,E., Yu,C.H., Polishchuk,R., Dmitriev,O.Y. and Lutsenko,S.
Journal J. Biol. Chem. 287 (43), 36041-36050 (2012)
Title Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family .
Author Olsson,K.S., Walinder,O., Kindmark,A. and Williams,R.
Journal Scand. J. Gastroenterol. 47 (8-9), 1014-1020 (2012)
Title Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study .
Author Hofer,H., Willheim-Polli,C., Knoflach,P., Gabriel,C., Vogel,W., Trauner,M., Muller,T. and Ferenci,P.
Journal J. Hum. Genet. 57 (9), 564-567 (2012)
Title The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center .
Author Iacob,R., Iacob,S., Nastase,A., Vagu,C., Ene,A.M., Constantinescu,A., Anghel,D., Banica,C., Paslaru,L., Coriu,D., Dima,S., Gheorghe,C., Ionica,E. and Gheorghe,L.
Journal J Gastrointestin Liver Dis 21 (2), 181-185 (2012)
Title Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions .
Author Petrukhin,K., Lutsenko,S., Chernov,I., Ross,B.M., Kaplan,J.H. and Gilliam,T.C.
Journal Hum. Mol. Genet. 3 (9), 1647-1656 (1994)
Title The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene .
Author Tanzi,R.E., Petrukhin,K., Chernov,I., Pellequer,J.L., Wasco,W., Ross,B., Romano,D.M., Parano,E., Pavone,L., Brzustowicz,L.M. et al.
Journal Nat. Genet. 5 (4), 344-350 (1993)
Title Mapping, cloning and genetic characterization of the region containing the Wilson disease gene .
Author Petrukhin,K., Fischer,S.G., Pirastu,M., Tanzi,R.E., Chernov,I., Devoto,M., Brzustowicz,L.M., Cayanis,E., Vitale,E., Russo,J.J. et al.
Journal Nat. Genet. 5 (4), 338-343 (1993)
Title The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene .
Author Bull,P.C., Thomas,G.R., Rommens,J.M., Forbes,J.R. and Cox,D.W.
Journal Nat. Genet. 5 (4), 327-337 (1993)
Title Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease .
Author Yamaguchi,Y., Heiny,M.E. and Gitlin,J.D.
Journal Biochem. Biophys. Res. Commun. 197 (1), 271-277 (1993)


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