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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. ORF Sequence $1250.55
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RefSeq Version NM_001940.3, 55750040
Length 4360 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA.
Product atrophin-1
Comment

Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010].


Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.

RefSeq NP_001931.2
CDS 231..3803
Misc Feature(1)225..227
Misc Feature(2)231..>677
Misc Feature(3)231..>677
Misc Feature(4)276..326
Misc Feature(5)330..332
Misc Feature(6)330..332
Misc Feature(7)459..461
Misc Feature(8)459..461
Misc Feature(9)465..467
Misc Feature(10)465..467
Misc Feature(11)471..473
Misc Feature(12)531..533
Misc Feature(13)531..533
Misc Feature(14)537..539
Misc Feature(15)537..539
Misc Feature(16)549..551
Misc Feature(17)549..551
Misc Feature(18)555..560
Misc Feature(19)555..557
Misc Feature(20)564..566
Misc Feature(21)585..587
Misc Feature(22)1680..1736
Misc Feature(23)1779..1931
Misc Feature(24)2124..2126
Misc Feature(25)2151..2153
Misc Feature(26)2163..2165
Misc Feature(27)2187..2189
Misc Feature(28)2187..2189
Misc Feature(29)2211..2213
Misc Feature(30)2211..2213
Misc Feature(31)2235..2237
Misc Feature(32)<2403..3800
Misc Feature(33)2445..2447
Misc Feature(34)2445..2447
Misc Feature(35)2466..2468
Misc Feature(36)2466..2468
Misc Feature(37)2472..2474
Misc Feature(38)2472..2474
Misc Feature(39)2865..2912
Misc Feature(40)3327..3353
Exon (1)1..68
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (2)69..257
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (3)258..395
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (4)396..509
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (5)510..2524
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (6)2525..2747
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (7)2748..3444
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (8)3445..3588
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (9)3589..3769
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Exon (10)3770..4344
Gene:ATN1
Gene Synonym:B37; D12S755E; DRPLA; HRS; NOD
Translation MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSDGKAEKSRQTAKKARVE EASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSPSDLDSLDGRSLNDDGSSD PRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHPPPLFPPSPQPPDSTPRQPE ASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQLYPGGTGGVLSGPPMGPKGGGA ASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPTTPVGGGNLPSAPPPANFPHVTPN LPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAMGQGMGGLPPGPEKGPTLAPSPHSLP PASSSAPAPPMRFPYSSSSSSSAAASSSSSSSSSSASPFPASQALPSYPHSFPPPTSLSV SNQPPKYTQPSLPSQAVWSQGPPPPPPYGRLLANSNAHPGPFPPSTGAQSTAHPPVSTHH HHHQQQQQQQQQQQQQQQQQQQHHGNSGPPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLR PYPPGPAHLPPPHSQVSYSQAGPNGPPVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYP FPPVPTVTTSSATLSTVIATVASSPAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPG SPPSFRTGTPPGYRGTSPPAGPGTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPP LSATQIKQEPAEEYETPESPVPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARS DLYFVPLEGSKLAKKRADLVEKVRREAEQRAREEKEREREREREKEREREKERELERSVK LAQEGRAPVECPSLGPVPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNR NHPFYVPLGAVDPGLLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPL HGVPGPGLDPFPRHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAER LAAERQHAERVAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLI DPLASGSHLTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQL QAMHAQSAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL
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Position Chain Variation Link
25+dbSNP:
25+a, gdbSNP:193192226
69+dbSNP:
69+a, gdbSNP:183340537
219+a, gdbSNP:148970839
257+a, gdbSNP:147637415
264+dbSNP:
264+a, gdbSNP:142186319
272+c, tdbSNP:150133354
287+a, gdbSNP:138459305
317+a, gdbSNP:200869380
416+dbSNP:
416+c, tdbSNP:143370762
429+g, tdbSNP:117704204
539+dbSNP:
539+c, tdbSNP:200573795
558+g, tdbSNP:201715319
587+c, tdbSNP:149260210
602+c, tdbSNP:143492759
638+c, tdbSNP:147993402
709+a, cdbSNP:201263134
742+c, tdbSNP:142325562
743+a, gdbSNP:144111044
760+a, gdbSNP:199585821
766+c, tdbSNP:115226639
783+c, gdbSNP:201262663
793+c, tdbSNP:142977260
804+a, cdbSNP:150657124
823+c, tdbSNP:201953188
874+c, tdbSNP:139874082
927+a, gdbSNP:149811742
936+a, cdbSNP:200232074
944+a, gdbSNP:200736794
955+c, tdbSNP:145751553
960+c, gdbSNP:139909258
968+a, cdbSNP:145331713
978+a, gdbSNP:148694613
1002+a, cdbSNP:142225209
1032+a, gdbSNP:143136221
1054+c, tdbSNP:201165264
1058+c, tdbSNP:191589142
1105+c, gdbSNP:201762823
1141+c, tdbSNP:151206022
1173+a, gdbSNP:140292997
1179+c, tdbSNP:150330962
1217+a, gdbSNP:137926388
1247+c, gdbSNP:1058045
1287+g, tdbSNP:202113252
1303+c, gdbSNP:142366172
1317+c, tdbSNP:144583520
1318+c, tdbSNP:201404455
1331+a, gdbSNP:138480639
1485+c, tdbSNP:200023232
1622+c, tdbSNP:143104309
1655+a, cdbSNP:144390061
1676+c, gdbSNP:148778647
1679+a, cdbSNP:141514883
1680..1685+, cagcaadbSNP:201442555
1680..1682+(cag(8_25))dbSNP:193922934
1689..1691+, caadbSNP:199920334
1691+a, gdbSNP:150855426
1692..1712+, cagcagcagcagcagcagcagdbSNP:66756893
1694..1702+, gcagcagcadbSNP:60216939
1694+a, gdbSNP:139947770
1697..1717+, gcagcagcagcagcagcagcadbSNP:66620283
1697+a, gdbSNP:145352906
1700+a, gdbSNP:142238167
1703+a, gdbSNP:140703448
1709+a, gdbSNP:139352180
1712+a, gdbSNP:144280633
1715+a, g, tdbSNP:148885085
1718+a, gdbSNP:200695600
1721+a, gdbSNP:201797204
1724+a, gdbSNP:199988271
1727+a, gdbSNP:142596770
1736+g, tdbSNP:146459577
1737+a, cdbSNP:200190594
1739+c, g, tdbSNP:146578563
1741+a, cdbSNP:144667578
1803+c, tdbSNP:189283580
1812+c, tdbSNP:138553159
1820+c, tdbSNP:140073846
1821+a, gdbSNP:150280850
1877+a, gdbSNP:11547602
1890+a, gdbSNP:149410083
1915+g, tdbSNP:147497525
1926+c, tdbSNP:138403084
1937+c, tdbSNP:143934146
1965+g, tdbSNP:147271413
1982+a, gdbSNP:200905097
2014+a, gdbSNP:112609741
2050+c, tdbSNP:140740374
2062+c, tdbSNP:142264552
2090+c, tdbSNP:199903899
2095+c, gdbSNP:150801397
2120+a, gdbSNP:201056920
2162+a, gdbSNP:139183408
2198+a, cdbSNP:112842935
2231+c, gdbSNP:202117570
2316+a, cdbSNP:200827990
2340+a, gdbSNP:12315465
2391+c, tdbSNP:181318837
2530+dbSNP:
2530+a, gdbSNP:149931213
2534+a, gdbSNP:189038212
2660+a, cdbSNP:7969685
2755+dbSNP:
2755+c, tdbSNP:146474196
2946+a, gdbSNP:141006210
2949+, cdbSNP:35279650
3015+a, gdbSNP:143844103
3053+c, gdbSNP:146691350
3058+a, gdbSNP:148828880
3240+a, gdbSNP:143430914
3249+a, gdbSNP:138470711
3311+c, tdbSNP:148377687
3325+c, tdbSNP:140583379
3328+c, tdbSNP:147111452
3377+c, tdbSNP:183865782
3405+c, tdbSNP:138508325
3410+c, tdbSNP:200797076
3459+dbSNP:
3459+c, tdbSNP:143968944
3469+c, tdbSNP:146284593
3477+c, tdbSNP:147281574
3488+a, gdbSNP:192536030
3527+a, cdbSNP:138766530
3740+dbSNP:
3740+a, gdbSNP:149355683
3791+dbSNP:
3791+a, c, gdbSNP:113128950
3868+c, tdbSNP:74057225
3928+a, gdbSNP:118174287
3992+a, gdbSNP:71445133
4084+a, cdbSNP:12318608
4156..4157+, gtdbSNP:146026478
4248+a, cdbSNP:11711
4307+a, cdbSNP:78561525
4327+c, tdbSNP:192626870
Gene SymbolATN1
Gene SynonymB37; D12S755E; DRPLA; HRS; NOD
Chromosome12
Locus Map12p13.31
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001007026 Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. Full Length $1528.45
ORF Sequence $1250.55
NM_001940 Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA. Full Length $1526.00
ORF Sequence $1250.55
Title DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded .
Author Suzuki,K., Zhou,J., Sato,T., Takao,K., Miyagawa,T., Oyake,M., Yamada,M., Takahashi,H., Takahashi,Y., Goto,J. and Tsuji,S.
Journal Neurobiol. Dis. 46 (2), 336-350 (2012)
Title Dentatorubral-pallidoluysian atrophy: haplotype of Asian origin in 2 Italian families .
Author Aridon,P., Tarantino,P., Ragonese,P., D'Amelio,M., Cinturino,A., Salemi,G., Gagliardi,M., Lo Re,V., Scarpitta,A., Gambardella,A., Quattrone,A., Annesi,G. and Savettieri,G.
Journal Mov. Disord. 27 (3), 460-461 (2012)
Title Dentatorubral-pallidoluysian atrophy .
Author Tsuji,S.
Journal Handb Clin Neurol 103, 587-594 (2012)
Title Differential clinical features in a pair of monozygotic twins with dentatorubropallidoluysian atrophy .
Author Sato,K., Yunoki,T., Morimoto,N., Nagotani,S., Deguchi,K., Takehisa,Y., Ikeda,Y., Matsuura,T., Abe,K. and Yamamoto,Y.
Journal Eur. J. Neurol. 18 (8), E100-E101 (2011)
Title Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy .
Author Suzuki,Y., Nakayama,K., Hashimoto,N. and Yazawa,I.
Journal FEBS J. 277 (23), 4873-4887 (2010)
Title Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS .
Author Onodera,O., Oyake,M., Takano,H., Ikeuchi,T., Igarashi,S. and Tsuji,S.
Journal Am. J. Hum. Genet. 57 (5), 1050-1060 (1995)
Title Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain .
Author Yazawa,I., Nukina,N., Hashida,H., Goto,J., Yamada,M. and Kanazawa,I.
Journal Nat. Genet. 10 (1), 99-103 (1995)
Title Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA) .
Author Nagafuchi,S., Yanagisawa,H., Ohsaki,E., Shirayama,T., Tadokoro,K., Inoue,T. and Yamada,M.
Journal Nat. Genet. 8 (2), 177-182 (1994)
Title The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family .
Author Burke,J.R., Wingfield,M.S., Lewis,K.E., Roses,A.D., Lee,J.E., Hulette,C., Pericak-Vance,M.A. and Vance,J.M.
Journal Nat. Genet. 7 (4), 521-524 (1994)
Title Dentatorubral and pallidoluysian atrophy expansion of an unstable .
Author Nagafuchi,S., Yanagisawa,H., Sato,K., Shirayama,T., Ohsaki,E., Bundo,M., Takeda,T., Tadokoro,K., Kondo,I., Murayama,N. et al.
Journal Nat. Genet. 6 (1), 14-18 (1994)

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