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Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26052 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. pcDNA3.1+-DYK On-demand $279.00 TBD
OHu26052C Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. Customized vector On-demand $329.00 TBD

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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_000333.3, 189491740
Length 2679 bp
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.
Product ataxin-7 isoform a

Summary: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010].

Transcript Variant: This variant (SCA7a) represents the predominant transcript and encodes isoform a.

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_000324.1
CDS 554..3232
Misc Feature(1)503..505
Misc Feature(2)503..505
Misc Feature(3)641..670
Misc Feature(4)641..670
Misc Feature(5)1502..1744
Misc Feature(6)3071..3073
Misc Feature(7)3098..3100
Misc Feature(8)3113..3115
Exon (1)1..443
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (2)444..542
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (3)543..878
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (4)879..947
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (5)948..1052
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (6)1053..1305
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (7)1306..1565
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (8)1566..1648
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (9)1649..1914
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (10)1915..2113
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (11)2114..2235
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (12)2236..3214
Gene Synonym:ADCAII; OPCA3; SCA7
Exon (13)3215..7227
Gene Synonym:ADCAII; OPCA3; SCA7
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Position Chain Variation Link
65+, tdbSNP:111860194
66..67+gc, tgdbSNP:386661723
66+g, tdbSNP:6779372
67..68+, cdbSNP:200376523
67+c, gdbSNP:3733120
67+gc, tgdbSNP:66504421
170+c, tdbSNP:372435705
245+g, tdbSNP:184508978
325+c, gdbSNP:367906487
428+c, gdbSNP:3733121
439+c, gdbSNP:368712390
764+g, tdbSNP:201561286
773+a, gdbSNP:201796752
776+a, gdbSNP:199663915
810+a, gdbSNP:370299464
826+c, gdbSNP:201334618
832+a, gdbSNP:201152899
850+a, tdbSNP:1053336
866+a, cdbSNP:376084779
904+a, gdbSNP:200896386
922+c, tdbSNP:371910514
956+a, gdbSNP:375586094
990+a, cdbSNP:369999332
1030+a, gdbSNP:192106966
1067+c, tdbSNP:185196712
1071+a, cdbSNP:376789146
1087+a, gdbSNP:371370297
1091+a, gdbSNP:376166098
1102+c, tdbSNP:140957991
1137+a, gdbSNP:201855236
1166+a, cdbSNP:201993621
1198+c, tdbSNP:371077686
1243+c, gdbSNP:368647643
1248+a, gdbSNP:199913643
1266+c, tdbSNP:374960670
1267+a, gdbSNP:189133753
1292+c, tdbSNP:200564224
1294+c, tdbSNP:371763698
1310+a, gdbSNP:201720980
1337+c, gdbSNP:201813211
1342+a, gdbSNP:372476262
1344+a, gdbSNP:1053338
1371+c, tdbSNP:369372603
1372+a, gdbSNP:372877938
1464+g, tdbSNP:201209382
1469+a, tdbSNP:140270787
1476+a, cdbSNP:372171156
1497+c, tdbSNP:370779210
1503+c, tdbSNP:144324163
1527+a, gdbSNP:61736574
1531+c, tdbSNP:117130898
1533+a, gdbSNP:147368400
1559+c, tdbSNP:371301831
1588+c, tdbSNP:368165026
1609+c, tdbSNP:371856622
1654+c, tdbSNP:72876990
1699+c, tdbSNP:111806673
1718+c, tdbSNP:375712125
1755+a, cdbSNP:369022821
1759+a, gdbSNP:371919711
1775+c, tdbSNP:375259317
1795+a, gdbSNP:190142927
1802+a, gdbSNP:61736570
1863+c, tdbSNP:374112735
1901+c, tdbSNP:377662689
1952+c, tdbSNP:370194721
1965+a, cdbSNP:374432295
1970+c, gdbSNP:376455162
2016+c, gdbSNP:370490843
2063+a, gdbSNP:374204507
2093+c, tdbSNP:368344624
2105+c, gdbSNP:372108789
2132+c, tdbSNP:376981592
2133+a, gdbSNP:201198489
2151+a, gdbSNP:200228746
2166+c, gdbSNP:201378707
2178+a, gdbSNP:370189575
2184+a, gdbSNP:189422868
2189+a, gdbSNP:74823804
2201+a, gdbSNP:375745291
2212+a, gdbSNP:180704942
2256+a, gdbSNP:370744607
2270+a, gdbSNP:3733124
2270+a, gdbSNP:386445652
2280+a, gdbSNP:114135587
2292+a, gdbSNP:183231074
2303+a, gdbSNP:367772998
2334+c, tdbSNP:372051444
2338+a, gdbSNP:61736569
2390+c, gdbSNP:199514376
2397+a, gdbSNP:372047910
2401+a, gdbSNP:369693067
2428+a, cdbSNP:201535253
2453+a, gdbSNP:146044947
2454+c, tdbSNP:138640161
2455+a, gdbSNP:376825363
2474+a, gdbSNP:201185294
2477+c, gdbSNP:200483516
2479+a, gdbSNP:1053339
2499+c, tdbSNP:149357581
2540+c, tdbSNP:1053340
2564+c, tdbSNP:369807335
2626+c, tdbSNP:373921933
2629+c, tdbSNP:374659231
2673+a, gdbSNP:368917711
2685+c, gdbSNP:372671103
2689+a, gdbSNP:375913531
2690+c, tdbSNP:3733125
2703+c, gdbSNP:373055531
2710+c, tdbSNP:377376951
2731+c, tdbSNP:61736567
2799+a, cdbSNP:376073882
2838+c, tdbSNP:368650687
2854+a, gdbSNP:199676165
2860+c, tdbSNP:144689252
2863+c, tdbSNP:374971427
2864+c, tdbSNP:367886296
2865+g, tdbSNP:372175214
2892+a, cdbSNP:375419943
2893+a, cdbSNP:368506531
2897+a, gdbSNP:148498434
2940+a, gdbSNP:201003086
2954+a, gdbSNP:375412696
2956+c, tdbSNP:369936038
2957+c, gdbSNP:61736568
2974+c, tdbSNP:372483818
2988+a, cdbSNP:145456263
3004+a, cdbSNP:187043098
3010+c, tdbSNP:374778905
3020+c, tdbSNP:199618575
3032+a, gdbSNP:147259509
3036+c, tdbSNP:373370935
3081+c, gdbSNP:376606208
3096+a, gdbSNP:371435328
3114+c, tdbSNP:201420100
3134+c, gdbSNP:369761983
3137+a, gdbSNP:3774729
3144+a, gdbSNP:377714188
3183+a, gdbSNP:371304147
3185+a, gdbSNP:200217864
3196+c, gdbSNP:374742012
3201+c, tdbSNP:376988730
3246+a, cdbSNP:180696871
3318+c, gdbSNP:201478726
3397+c, gdbSNP:184480137
3405+a, gdbSNP:77203794
3413+a, gdbSNP:73834169
3470+c, gdbSNP:189447000
3532..3533+, tdbSNP:371744823
3543+c, gdbSNP:181414756
3634+c, gdbSNP:114899708
3654..3655+, tdbSNP:3836529
3726+c, tdbSNP:369620380
3756+a, gdbSNP:115253214
3807+c, tdbSNP:186686373
3828+a, gdbSNP:190745990
complement(3870)-c, adbSNP:148551198
3984+, tdbSNP:112759850
3996+a, gdbSNP:142980121
4083+a, gdbSNP:151104593
4091+a, gdbSNP:181913082
4136+a, gdbSNP:200800677
4136+, tdbSNP:3836530
4139+, tdbSNP:397841163
4159+c, tdbSNP:186560191
4252+a, gdbSNP:191077593
4254+a, tdbSNP:182363490
4259+a, gdbSNP:13272
4334..4335+, tgdbSNP:369067120
4459+g, tdbSNP:368937006
4482+c, tdbSNP:11922969
4630+c, tdbSNP:187957148
4652+a, gdbSNP:191044528
4777+c, tdbSNP:183418963
4820+c, tdbSNP:115550453
4927+a, cdbSNP:139145114
4966+, tdbSNP:201027399
4982..4983+, adbSNP:34471608
4995+c, tdbSNP:187302239
5101+a, tdbSNP:192294510
5102+c, tdbSNP:79896076
5104+a, gdbSNP:143984857
5198+c, tdbSNP:76350727
5301+c, gdbSNP:184678476
5475+a, gdbSNP:187544052
5478+c, tdbSNP:146464987
complement(5637)-g, adbSNP:140925736
5782..5783+, aadbSNP:77184837
5851..5852+, cdbSNP:36035541
5883+a, gdbSNP:79883177
6108..6109+, adbSNP:56783135
6132+a, gdbSNP:193273102
6141+c, tdbSNP:184160451
6158+c, gdbSNP:150104842
6237+a, tdbSNP:377114964
6260+c, tdbSNP:3733126
6262..6263+, gcdbSNP:147010817
6263+c, tdbSNP:3733127
6277+c, tdbSNP:9990236
6282..6283+, gtdbSNP:59211117
6325+g, tdbSNP:189032643
6368+c, tdbSNP:145568367
6467+c, gdbSNP:377628055
6468+a, gdbSNP:148863609
6480+c, gdbSNP:115703220
complement(6642)-t, adbSNP:1866300
6707+c, tdbSNP:143627115
6758+c, tdbSNP:17069638
6825+c, tdbSNP:138196842
6844+a, tdbSNP:143867995
6911+a, gdbSNP:181472839
6934+c, tdbSNP:186110216
7089+a, gdbSNP:190922611
7109+c, tdbSNP:74434492
Gene SymbolATXN7
Gene SynonymADCAII; OPCA3; SCA7
Locus Map3p21.1-p12
Title Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7 .
Author Burke TL, Miller JL and Grant PA.
Journal J. Biol. Chem. 288 (47), 34266-34275 (2013)
Title Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7 .
Author Jiang YJ, Zhou CJ, Zhou ZR, Wu M and Hu HY.
Journal FEBS Lett. 587 (18), 2905-2911 (2013)
Title Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes .
Author McCullough SD, Xu X, Dent SY, Bekiranov S, Roeder RG and Grant PA.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (52), 21319-21324 (2012)
Title Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons .
Author Yanicostas C, Barbieri E, Hibi M, Brice A, Stevanin G and Soussi-Yanicostas N.
Journal PLoS ONE 7 (11), E50705 (2012)
Title A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product .
Author Einum DD, Clark AM, Townsend JJ, Ptacek LJ and Fu YH.
Journal Arch. Neurol. 60 (1), 97-103 (2003)
Title Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion .
Author David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg M, Agid Y, Mandel JL and Brice A.
Journal Nat. Genet. 17 (1), 65-70 (1997)
Title The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1 .
Author Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Durr A and Zaim A.
Journal Nat. Genet. 10 (1), 84-88 (1995)
Title Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening .
Author Robertson NG, Khetarpal U, Gutierrez-Espeleta GA, Bieber FR and Morton CC.
Journal Genomics 23 (1), 42-50 (1994)
Title Spinocerebellar Ataxia Type 7 .
Author Garden,G.
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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