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Blast Method:


Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26918 Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu26918C Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_004993.5, 189163490
Length 1086 bp
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.
Product ataxin-3 reference isoform

Summary: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009].

Transcript Variant: This variant (reference, also known as variant 1) encodes the longest isoform (reference isoform, also known as isoform 1).

Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

RefSeq NP_004984.2
CDS 70..1155
Misc Feature(1)91..573
Misc Feature(2)91..573
Misc Feature(3)943..984
Exon (1)1..93
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (2)94..258
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (3)259..303
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (4)304..389
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (5)390..456
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (6)457..544
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (7)545..677
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (8)678..844
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (9)845..941
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (10)942..1060
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
Exon (11)1061..6923
Gene Synonym:AT3; ATX3; JOS; MJD; MJD1; SCA3
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Position Chain Variation Link
15..16+, gdbSNP:55970447
complement(27)-t, cdbSNP:373384259
36+c, tdbSNP:56331048
39+c, tdbSNP:3814834
complement(40)-t, cdbSNP:374699412
complement(51)-g, adbSNP:368734521
complement(62)-t, adbSNP:376741760
complement(117)-t, cdbSNP:201027114
complement(149)-t, cdbSNP:368260154
complement(159)-g, adbSNP:17853195
complement(182)-t, cdbSNP:200872467
complement(241)-g, adbSNP:375315995
complement(244)-g, adbSNP:147833264
complement(248)-g, adbSNP:144506566
complement(249)-t, cdbSNP:140562271
complement(257)-t, cdbSNP:377603133
complement(261)-t, cdbSNP:373205243
complement(263)-g, adbSNP:200230139
complement(328..329)-, cadbSNP:35956988
complement(389)-g, adbSNP:371630976
complement(435)-t, cdbSNP:200356462
complement(475)-g, adbSNP:144152152
complement(551)-g, cdbSNP:200118135
561+c, tdbSNP:16999141
complement(600)-g, cdbSNP:139050721
complement(610)-t, cdbSNP:374466872
complement(612)-t, adbSNP:150738718
complement(639)-t, cdbSNP:202119840
complement(652)-t, cdbSNP:141672872
complement(666)-t, cdbSNP:201241311
complement(701)-t, cdbSNP:138404351
703+a, gdbSNP:1048755
complement(711)-t, cdbSNP:142148800
complement(719)-t, adbSNP:75188275
complement(738)-g, adbSNP:371037244
complement(739)-t, cdbSNP:377574592
complement(741)-t, gdbSNP:148366775
complement(771)-t, cdbSNP:201012097
complement(779)-t, cdbSNP:199876727
complement(787)-t, cdbSNP:199790369
complement(791)-t, cdbSNP:200483057
complement(792)-g, adbSNP:143402326
complement(798)-t, cdbSNP:201553525
complement(820)-t, cdbSNP:149131253
complement(913)-g, adbSNP:377031212
complement(914)-t, cdbSNP:145210459
complement(923)-t, cdbSNP:147058331
930+a, cdbSNP:3204346
complement(951..953)-, tttdbSNP:141993435
complement(951)-t, cdbSNP:12896589
complement(952)-t, gdbSNP:12896588
complement(960)-t, cdbSNP:12896583
complement(985)-g, cdbSNP:12895357
complement(986)-t, cdbSNP:368058740
complement(988)-g, cdbSNP:374646934
complement(1044)-t, gdbSNP:139577236
complement(1057)-g, cdbSNP:151002328
complement(1081)-t, cdbSNP:142718363
complement(1086)-t, cdbSNP:199942851
complement(1204)-c, adbSNP:376064779
complement(1205)-t, cdbSNP:371442064
complement(1246)-g, cdbSNP:373813370
complement(1268)-t, gdbSNP:10151135
complement(1288)-t, cdbSNP:376865350
complement(1306)-t, cdbSNP:709930
complement(1308)-g, adbSNP:116338117
1309+g, tdbSNP:1804683
complement(1432..1433)-, gdbSNP:34148613
1482+c, tdbSNP:56277345
complement(1493)-, cdbSNP:34431920
complement(1537)-c, adbSNP:910369
complement(1550)-t, cdbSNP:140741824
complement(1641)-c, adbSNP:17127901
complement(1660)-g, adbSNP:78530327
complement(1674)-g, adbSNP:377668917
1781+a, gdbSNP:17847274
complement(1806)-g, adbSNP:180896627
complement(1820)-t, cdbSNP:55644237
1869+a, gdbSNP:56396823
complement(2022)-t, cdbSNP:115345965
complement(2073)-g, adbSNP:373659686
complement(2144)-g, adbSNP:151107245
2261+a, gdbSNP:55966267
complement(2357)-t, cdbSNP:74731246
complement(2380)-t, gdbSNP:375844803
complement(2552)-t, gdbSNP:74071835
complement(2607)-t, cdbSNP:142986250
complement(2632)-g, adbSNP:61988394
complement(2981)-t, cdbSNP:148968790
complement(2990)-t, cdbSNP:147932464
3152+c, tdbSNP:55692120
complement(3173)-t, gdbSNP:187186734
complement(3218..3219)-, adbSNP:145019811
complement(3223)-g, adbSNP:182587249
complement(3224)-t, cdbSNP:12433948
complement(3293)-g, adbSNP:140811598
complement(3332)-g, adbSNP:374968114
complement(3390)-t, cdbSNP:8019545
complement(3391)-t, cdbSNP:55921125
complement(3469)-c, adbSNP:35041243
complement(3493)-g, adbSNP:149978731
complement(3504)-g, adbSNP:113070671
3627+g, tdbSNP:56196346
complement(3827)-t, gdbSNP:190326858
complement(3842)-t, cdbSNP:11628764
complement(3874)-t, cdbSNP:186208016
complement(3981)-g, adbSNP:111461096
complement(4007)-g, adbSNP:375246638
complement(4034)-g, adbSNP:188739788
complement(4066)-g, cdbSNP:371606868
complement(4227)-, adbSNP:201936460
4420+c, tdbSNP:1055996
complement(4434)-g, adbSNP:184013158
complement(4491)-g, adbSNP:150577313
complement(4492)-t, cdbSNP:192345523
complement(4508)-c, adbSNP:111357714
complement(4513)-g, adbSNP:189650643
complement(4514)-t, cdbSNP:374782928
complement(4522)-t, cdbSNP:112586446
complement(4588)-t, cdbSNP:138165116
4605+a, gdbSNP:3178662
complement(4655..4674)-tggctcactgcatcctctgt, cggctcactgcatcctctgcdbSNP:386779980
4655+a, gdbSNP:1134377
4674+a, gdbSNP:1134378
complement(4716)-t, gdbSNP:184319601
complement(4740..4741)-, ttdbSNP:35141835
complement(4767)-g, adbSNP:193285351
complement(4884)-g, adbSNP:146242536
complement(4946)-g, adbSNP:188681362
complement(4956)-t, gdbSNP:182949932
complement(5028)-t, cdbSNP:141777702
complement(5059)-g, adbSNP:191933456
complement(5096)-t, cdbSNP:75002598
complement(5135)-t, cdbSNP:78681557
complement(5165)-g, adbSNP:377639670
complement(5169)-g, adbSNP:374276626
complement(5189)-g, adbSNP:8008405
complement(5193..5194)-, ttdbSNP:11451253
complement(5203..5204)-, atatdbSNP:397970086
5204..5205+, atdbSNP:398026195
complement(5204..5205)-, t, ttttdbSNP:61461391
complement(5205..5207)-, atadbSNP:371762976
complement(5205)-t, adbSNP:11621770
complement(5205)-, adbSNP:386419521
complement(5207)-t, adbSNP:34351382
complement(5209)-, adbSNP:367664867
complement(5222..5225)-, atatdbSNP:376316878
complement(5222)-t, cdbSNP:138868478
complement(5224)-t, cdbSNP:149006887
complement(5230)-t, cdbSNP:199894637
complement(5231..5232)-, acdbSNP:200238931
complement(5241..5242)-, atdbSNP:201691672
complement(5390)-t, gdbSNP:8009456
complement(5406)-g, cdbSNP:182375232
complement(5579)-c, adbSNP:67089639
complement(5642..5645)-, aaagdbSNP:367993031
complement(5642)-g, adbSNP:200134701
complement(5655)-g, adbSNP:191168297
complement(5662)-g, adbSNP:112733683
complement(5708..5709)-, adbSNP:112537858
complement(5735)-t, cdbSNP:141847020
complement(5742)-g, adbSNP:186244206
complement(5756)-g, adbSNP:147968987
complement(5812..5813)-, adbSNP:398118522
complement(5819..5820)-, adbSNP:145205040
complement(5932)-g, adbSNP:182487175
complement(6076)-t, cdbSNP:116994678
complement(6160)-g, cdbSNP:192385527
complement(6202..6205)-, tcatdbSNP:369630957
complement(6202)-t, cdbSNP:9652396
complement(6206)-t, cdbSNP:10151945
complement(6257)-g, adbSNP:74244591
complement(6348)-t, cdbSNP:8022758
complement(6368)-g, adbSNP:144799309
complement(6517)-, adbSNP:58982263
complement(6543)-t, cdbSNP:73323741
complement(6583)-c, adbSNP:151053179
6674+c, tdbSNP:1047795
complement(6689)-t, cdbSNP:142874189
complement(6733)-g, adbSNP:74071833
complement(6855)-g, adbSNP:148498078
complement(6859)-g, cdbSNP:186327684
Gene SymbolATXN3
Gene SynonymAT3; ATX3; JOS; MJD; MJD1; SCA3
Locus Map14q21
Title Ubiquitination regulates the neuroprotective function of the deubiquitinase ataxin-3 in vivo .
Author Tsou WL, Burr AA, Ouyang M, Blount JR, Scaglione KM and Todi SV.
Journal J. Biol. Chem. 288 (48), 34460-34469 (2013)
Title [Cloning and localization of A3IP -a novel protein that interacts with ataxin-3] .
Author Huang FZ, Hou X, Wang G, Cai F, Fang HY, Pan Q, Xia K, Tang BS and Jiang H.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 30 (4), 394-398 (2013)
Title Ataxin-3 protects cells against H2O2-induced oxidative stress by enhancing the interaction between Bcl-X(L) and Bax .
Author Zhou L, Wang H, Wang P, Ren H, Chen D, Ying Z and Wang G.
Journal Neuroscience 243, 14-21 (2013)
Title Genetics of coronary artery calcification among African Americans, a meta-analysis .
Author Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM, Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki
Journal BMC Med. Genet. 14, 75 (2013)
Title Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3) .
Author Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P, Santos LR, Simoes N, Kay T, Vasconcelos J, Maciel P and Lima M.
Journal Neurogenetics 11 (2), 193-202 (2010)
Title Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients .
Author Schols L, Vieira-Saecker AM, Schols S, Przuntek H, Epplen JT and Riess O.
Journal Hum. Mol. Genet. 4 (6), 1001-1005 (1995)
Title The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2 .
Author Stevanin G, Cancel G, Durr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y and Brice A.
Journal Am. J. Hum. Genet. 56 (1), 193-201 (1995)
Title CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 .
Author Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M and Akiguchi I.
Journal Nat. Genet. 8 (3), 221-228 (1994)
Title Spinocerebellar Ataxia Type 3 .
Author Paulson,H.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Hereditary Ataxia Overview .
Author Bird,T.D.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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