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

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004993 Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. GenEZ ORF Cloning On-demand $549.00 14

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RefSeq Version NM_004993.5, 189163490
Length 6923 bp
Structure linear
Update Date 29-APR-2013
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)736..789
Misc Feature(4)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
complement(17..18)-, gdbSNP:55970447
complement(36)-t, cdbSNP:56331048
complement(39)-t, cdbSNP:3814834
complement(117)-t, cdbSNP:201027114
complement(159)-g, adbSNP:17853195
complement(182)-t, cdbSNP:200872467
complement(244)-g, adbSNP:147833264
complement(248)-g, adbSNP:144506566
complement(249)-t, cdbSNP:140562271
complement(263)-g, adbSNP:200230139
complement(328..329)-, cadbSNP:35956988
complement(435)-t, cdbSNP:200356462
complement(475)-g, adbSNP:144152152
complement(551)-g, cdbSNP:200118135
complement(561)-t, cdbSNP:16999141
complement(600)-g, cdbSNP:139050721
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
complement(703)-g, adbSNP:1048755
complement(711)-t, cdbSNP:142148800
complement(719)-t, adbSNP:75188275
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(914)-t, cdbSNP:145210459
complement(923)-t, cdbSNP:147058331
complement(930)-c, adbSNP:3204346
complement(951..953)-, tttdbSNP:141993435
complement(951)-t, cdbSNP:12896589
complement(952)-t, gdbSNP:12896588
complement(960)-t, cdbSNP:12896583
complement(975)-t, cdbSNP:141688383
complement(983..984)-, ctgctgctgctgctgctgdbSNP:67474612
complement(983)-t, cdbSNP:147904130
complement(984)-, ctgdbSNP:76478261
complement(985)-g, cdbSNP:12895357
complement(1044)-t, gdbSNP:139577236
complement(1057)-g, cdbSNP:151002328
complement(1081)-t, cdbSNP:142718363
complement(1086)-t, cdbSNP:199942851
complement(1268)-t, gdbSNP:10151135
complement(1306)-t, cdbSNP:709930
complement(1308)-g, adbSNP:116338117
complement(1309)-t, gdbSNP:1804683
complement(1432..1433)-, gdbSNP:34148613
complement(1482)-t, cdbSNP: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(1781)-g, adbSNP:17847274
complement(1806)-g, adbSNP:180896627
complement(1820)-t, cdbSNP:55644237
complement(1869)-g, adbSNP:56396823
complement(2022)-t, cdbSNP:115345965
complement(2144)-g, adbSNP:151107245
complement(2261)-g, adbSNP:55966267
complement(2357)-t, cdbSNP:74731246
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
complement(3152)-t, cdbSNP: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(3390)-t, cdbSNP:8019545
complement(3391)-t, cdbSNP:55921125
complement(3469)-c, adbSNP:35041243
complement(3493)-g, adbSNP:149978731
complement(3504)-g, adbSNP:113070671
complement(3627)-t, gdbSNP:56196346
complement(3827)-t, gdbSNP:190326858
complement(3842)-t, cdbSNP:11628764
complement(3874)-t, cdbSNP:186208016
complement(3981)-g, adbSNP:111461096
complement(4034)-g, adbSNP:188739788
complement(4227)-, adbSNP:201936460
complement(4420)-t, cdbSNP: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(4522)-t, cdbSNP:112586446
complement(4588)-t, cdbSNP:138165116
complement(4605)-g, adbSNP:3178662
complement(4655)-g, adbSNP:1134377
complement(4674)-g, adbSNP:1134378
complement(4716)-t, gdbSNP:184319601
complement(4739..4740)-, t, ttdbSNP:11451252
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(5189)-g, adbSNP:8008405
complement(5193..5194)-, t, ttdbSNP:11451253
complement(5203..5204)-, t, atatdbSNP:61461391
complement(5205)-t, adbSNP:11621770
complement(5206)-, tdbSNP:35460310
complement(5207)-t, adbSNP:34351382
complement(5220..5223)-, atatdbSNP:35904657
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)-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(5819..5820)-, adbSNP:145205040
complement(5820..5821)-, adbSNP:147216656
complement(5932)-g, adbSNP:182487175
complement(6076)-t, cdbSNP:116994678
complement(6160)-g, cdbSNP:192385527
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(6529)-, adbSNP:58982263
complement(6543)-t, cdbSNP:73323741
complement(6583)-c, adbSNP:151053179
complement(6674)-t, cdbSNP: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
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001127696 Homo sapiens ataxin 3 (ATXN3), transcript variant ad, mRNA. On-demand $549.00 14
NM_001127697 Homo sapiens ataxin 3 (ATXN3), transcript variant e, mRNA. On-demand $449.00 14
NM_001164774 Homo sapiens ataxin 3 (ATXN3), transcript variant b, mRNA. On-demand $299.00 14
NM_001164776 Homo sapiens ataxin 3 (ATXN3), transcript variant g, mRNA. On-demand $299.00 14
NM_001164777 Homo sapiens ataxin 3 (ATXN3), transcript variant j, mRNA. On-demand $299.00 14
NM_001164778 Homo sapiens ataxin 3 (ATXN3), transcript variant o, mRNA. On-demand $299.00 14
NM_001164779 Homo sapiens ataxin 3 (ATXN3), transcript variant r, mRNA. On-demand $399.00 14
NM_001164780 Homo sapiens ataxin 3 (ATXN3), transcript variant u, mRNA. On-demand $399.00 14
NM_001164781 Homo sapiens ataxin 3 (ATXN3), transcript variant y, mRNA. On-demand $449.00 14
NM_001164782 Homo sapiens ataxin 3 (ATXN3), transcript variant ae, mRNA. On-demand $299.00 14
NM_004993 Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA. On-demand $549.00 14
NM_030660 Homo sapiens ataxin 3 (ATXN3), transcript variant h, mRNA. On-demand $449.00 14
Title Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3) .
Author Bettencourt,C., Raposo,M., Kazachkova,N., Santos,C., Kay,T., Vasconcelos,J., Maciel,P., Donis,K.C., Saraiva-Pereira,M.L., Jardim,L.B., Sequeiros,J., Bruges-Armas,J. and Lima,M.
Journal Cerebellum 11 (4), 1045-1050 (2012)
Title Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery .
Author Chen,C.P., Chen,Y.H., Chern,S.R., Chang,S.J., Tsai,T.L., Li,S.H., Chou,H.C., Lo,Y.W., Lyu,P.C. and Chan,H.L.
Journal Mol Biosyst 8 (9), 2360-2372 (2012)
Title Ataxin-3 regulates aggresome formation of copper-zinc superoxide dismutase (SOD1) by editing K63-linked polyubiquitin chains .
Author Wang,H., Ying,Z. and Wang,G.
Journal J. Biol. Chem. 287 (34), 28576-28585 (2012)
Title Calpastatin-mediated inhibition of calpains in the mouse brain prevents mutant ataxin 3 proteolysis, nuclear localization and aggregation, relieving Machado-Joseph disease .
Author Simoes,A.T., Goncalves,N., Koeppen,A., Deglon,N., Kugler,S., Duarte,C.B. and Pereira de Almeida,L.
Journal Brain 135 (PT 8), 2428-2439 (2012)
Title Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia .
Author Tezenas du Montcel,S., Charles,P., Goizet,C., Marelli,C., Ribai,P., Vincitorio,C., Anheim,M., Guyant-Marechal,L., Le Bayon,A., Vandenberghe,N., Tchikviladze,M., Devos,D., Le Ber,I., N'Guyen,K., Cazeneuve,C., Tallaksen,C., Brice,A. and Durr,A.
Journal Arch. Neurol. 69 (4), 500-508 (2012)
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,L.R., 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,A.M., Schols,S., Przuntek,H., Epplen,J.T. 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,H.M., 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., Akiguchi,I. et al.
Journal Nat. Genet. 8 (3), 221-228 (1994)
Title The gene for Machado-Joseph disease maps to human chromosome 14q .
Author Takiyama,Y., Nishizawa,M., Tanaka,H., Kawashima,S., Sakamoto,H., Karube,Y., Shimazaki,H., Soutome,M., Endo,K., Ohta,S. et al.
Journal Nat. Genet. 4 (3), 300-304 (1993)

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