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

RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000333 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000333.3, 189491740
Length 7242 bp
Structure linear
Update Date 17-APR-2013
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:66504421
66+g, tdbSNP:6779372
67..68+, cdbSNP:200376523
67+c, gdbSNP:3733120
245+g, tdbSNP:184508978
428+c, gdbSNP:3733121
645..646+, agcagcdbSNP:34631248
662..663+, agcagcdbSNP:10681703
764+g, tdbSNP:201561286
773+a, gdbSNP:201796752
776+a, gdbSNP:199663915
826+c, gdbSNP:201334618
832+a, gdbSNP:201152899
850+a, tdbSNP:1053336
904+a, gdbSNP:200896386
1030+a, gdbSNP:192106966
1067+c, tdbSNP:185196712
1102+c, tdbSNP:140957991
1137+a, gdbSNP:201855236
1166+a, cdbSNP:201993621
1248+a, gdbSNP:199913643
1267+a, gdbSNP:189133753
1292+c, tdbSNP:200564224
1310+a, gdbSNP:201720980
1337+c, gdbSNP:201813211
1344+a, gdbSNP:1053338
1464+g, tdbSNP:201209382
1469+a, tdbSNP:140270787
1503+c, tdbSNP:144324163
1527+a, gdbSNP:61736574
1531+c, tdbSNP:117130898
1533+a, gdbSNP:147368400
1654+c, tdbSNP:72876990
1699+c, tdbSNP:111806673
1795+a, gdbSNP:190142927
1802+a, gdbSNP:61736570
2133+a, gdbSNP:201198489
2151+a, gdbSNP:200228746
2166+c, gdbSNP:201378707
2184+a, gdbSNP:189422868
2189+a, gdbSNP:74823804
2212+a, gdbSNP:180704942
2270+a, gdbSNP:3733124
2280+a, gdbSNP:114135587
2292+a, gdbSNP:183231074
2338+a, gdbSNP:61736569
2390+c, gdbSNP:199514376
2428+a, cdbSNP:201535253
2453+a, gdbSNP:146044947
2454+c, tdbSNP:138640161
2474+a, gdbSNP:201185294
2477+c, gdbSNP:200483516
2479+a, gdbSNP:1053339
2499+c, tdbSNP:149357581
2540+c, tdbSNP:1053340
2690+c, tdbSNP:3733125
2731+c, tdbSNP:61736567
2854+a, gdbSNP:199676165
2860+c, tdbSNP:144689252
2897+a, gdbSNP:148498434
2940+a, gdbSNP:201003086
2957+c, gdbSNP:61736568
2988+a, cdbSNP:145456263
3004+a, cdbSNP:187043098
3020+c, tdbSNP:199618575
3032+a, gdbSNP:147259509
3114+c, tdbSNP:201420100
3137+a, gdbSNP:3774729
3185+a, gdbSNP:200217864
3246+a, cdbSNP:180696871
3318+c, gdbSNP:201478726
3397+c, gdbSNP:184480137
3405+a, gdbSNP:77203794
3413+a, gdbSNP:73834169
3470+c, gdbSNP:189447000
3543+c, gdbSNP:181414756
3634+c, gdbSNP:114899708
3646..3647+, tdbSNP:3836529
3756+a, gdbSNP:115253214
3807+c, tdbSNP:186686373
3828+a, gdbSNP:190745990
3870+a, cdbSNP:148551198
3984+, tdbSNP:112759850
3996+a, gdbSNP:142980121
4083+a, gdbSNP:151104593
4091+a, gdbSNP:181913082
4136+a, gdbSNP:200800677
4136+, tdbSNP:3836530
4159+c, tdbSNP:186560191
4252+a, gdbSNP:191077593
4254+a, tdbSNP:182363490
4259+a, gdbSNP:13272
4482+c, tdbSNP:11922969
4630+c, tdbSNP:187957148
4652+a, gdbSNP:191044528
4777+c, tdbSNP:183418963
4820+c, tdbSNP:115550453
4927+a, cdbSNP:139145114
4964+, 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
5637+a, gdbSNP:140925736
5769+, aadbSNP:77184837
5851..5852+, cdbSNP:36035541
5883+a, gdbSNP:79883177
6105..6106+, adbSNP:56783135
6132+a, gdbSNP:193273102
6141+c, tdbSNP:184160451
6158+c, gdbSNP:150104842
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
6468+a, gdbSNP:148863609
6480+c, gdbSNP:115703220
6642+a, tdbSNP:1866300
6647..6655+, aaaatatttdbSNP:6147855
6707+c, tdbSNP:143627115
6758+c, tdbSNP:17069638
6825+c, tdbSNP:138196842
6844+a, tdbSNP:143867995
6911+a, gdbSNP:181472839
6934+c, tdbSNP:186110216
6971..6972+, ttttttdbSNP:56971120
7089+a, gdbSNP:190922611
7109+c, tdbSNP:74434492
Gene SymbolATXN7
Gene SynonymADCAII; OPCA3; SCA7
Locus Map3p21.1-p12
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000333 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. On-demand TBD TBD
NM_001128149 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7c, mRNA. On-demand $849.00 20
NM_001177387 Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7b, mRNA. On-demand TBD TBD
Title Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes .
Author McCullough,S.D., Xu,X., Dent,S.Y., Bekiranov,S., Roeder,R.G. and Grant,P.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 109 (52), 21319-21324 (2012)
Title Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases .
Author Friedrich,B., Euler,P., Ziegler,R., Kuhn,A., Landwehrmeyer,B.G., Luthi-Carter,R., Weiller,C., Hellwig,S. and Zucker,B.
Journal Brain Res. 1481, 37-48 (2012)
Title Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model .
Author Yu,X., Ajayi,A., Boga,N.R. and Strom,A.L.
Journal J. Mol. Neurosci. 47 (2), 219-233 (2012)
Title Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network .
Author Nakamura,Y., Tagawa,K., Oka,T., Sasabe,T., Ito,H., Shiwaku,H., La Spada,A.R. and Okazawa,H.
Journal Hum. Mol. Genet. 21 (5), 1099-1110 (2012)
Title Expanded ataxin-7 cause toxicity by inducing ROS production from .
Author Ajayi,A., Yu,X., Lindberg,S., Langel,U. and Strom,A.L.
Journal BMC Neurosci 13, 86 (2012)
Title A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product .
Author Einum,D.D., Clark,A.M., Townsend,J.J., Ptacek,L.J. and Fu,Y.H.
Journal Arch. Neurol. 60 (1), 97-103 (2003)
Title Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion .
Author Del-Favero,J., Krols,L., Michalik,A., Theuns,J., Lofgren,A., Goossens,D., Wehnert,A., Van den Bossche,D., Van Zand,K., Backhovens,H., van Regenmorter,N., Martin,J.J. and Van Broeckhoven,C.
Journal Hum. Mol. Genet. 7 (2), 177-186 (1998)
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,J.L. 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,J.J., Durr,A., Zaim,A. et al.
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,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R. and Morton,C.C.
Journal Genomics 23 (1), 42-50 (1994)

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