333:
310:
207:
232:
591:
584:
339:
238:
40:
1370:; this leads to an expanded polyglutamine tract in the protein. This elongation is variable in length, with as few as 6 and as many as 81 repeats reported in humans. Repeats of 39 or more uninterrupted CAG triplets cause disease, and longer repeat tracts are correlated with earlier age of onset and faster progression.
1228:, two of which are protein-coding. There is a CAG repeat in the coding sequence which is longer in humans than other species (6-38 uninterrupted CAG repeats in healthy humans versus 2 in the mouse gene). This repeat is prone to errors in DNA replication and can vary widely in length between individuals.
2022:
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, Finnell RH, Lei Y, Zurita-Jimenez ME, Ahimaz P, Anyane-Yeboa K, Van
Maldergem L, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousin MA, Bro DE, Lanpher BC,
1403:
Soluble Ataxin-1 interacts with many other proteins. Polyglutamine expansion in Ataxin-1 can affect these interactions, sometimes causing loss of function (where the protein fails to perform one of its normal functions) and sometimes causing toxic gain of function (where the protein binds too
1393:. This led to the hypothesis that the aggregates are toxic to neurons, but it has been shown in mice that aggregation is not required for pathogenesis. Other neuronal proteins can modulate the formation of Ataxin-1 aggregates and this in turn may affect aggregate-induced toxicity.
2115:
Matilla T, Volpini V, Genís D, Rosell J, Corral J, Dávalos A, Molins A, Estivill X (December 1993). "Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias".
66:
1625:
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (July 1993). "Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1".
1449:
damage. In the SCA1 mouse model, over-expression of the HMGB1 protein by means of an introduced virus vector bearing the HMGB1 gene facilitates repair of the mitochondrial DNA damage, ameliorates the
1547:
Volz A, Fonatsch C, Ziegler A (Jun 1992). "Regional mapping of the gene for autosomal dominant spinocerebellar ataxia (SCA1) by localizing the closely linked D6S89 locus to 6p24.2----p23.05".
1804:
Suter B, Fontaine JF, Yildirimman R, Raskó T, Schaefer MH, Rasche A, Porras P, Vázquez-Álvarez BM, Russ J, Rau K, Foulle R, Zenkner M, Saar K, Herwig R, Andrade-Navarro MA, Wanker EE (2013).
1280:
based on its location in the nucleus of the cell, its association with promoter regions of several genes, and its interactions with transcriptional regulators and parts of the
1373:
How polyglutamine expansion in Ataxin-1 causes neuronal dysfunction and degeneration is still unclear. Disease likely occurs through the combination of several processes.
1769:
Kim E, Lee Y, Choi S, Song JJ (July 2014). "Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17".
346:
245:
2384:
de Chiara C, Menon RP, Dal Piaz F, Calder L, Pastore A (December 2005). "Polyglutamine is not all: the functional role of the AXH domain in the ataxin-1 protein".
2770:
879:
860:
2558:
Irwin S, Vandelft M, Pinchev D, Howell JL, Graczyk J, Orr HT, Truant R (January 2005). "RNA association and nucleocytoplasmic shuttling by ataxin-1".
168:
1313:
1529:
1511:
2790:
2072:
Hong S, Kim SJ, Ka S, Choi I, Kang S (June 2002). "USP7, a ubiquitin-specific protease, interacts with ataxin-1, the SCA1 gene product".
332:
1404:
strongly or to an inappropriate target). This, in turn, could alter the expression of the genes ataxin-1 regulates, leading to disease.
2728:
2343:
Al-Ramahi I, Lam YC, Chen HK, de Gouyon B, Zhang M, Pérez AM, Branco J, de Haro M, Patterson C, Zoghbi HY, Botas J (September 2006).
1934:"Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase"
1118:
1111:
309:
2168:
1381:
Mutant Ataxin-1 protein spontaneously misfolds and forms aggregates in cells, much like other disease-associated proteins such as
1582:
1422:(SCA1). In a mouse model of SCA1, mutant ataxin1 mediates the reduction or inhibition of the high mobility group box1 protein (
1251:
1498:
1477:
1720:
Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY (December 2006).
2661:
Ito H, Fujita K, Tagawa K, Chen X, Homma H, Sasabe T, Shimizu J, Shimizu S, Tamura T, Muramatsu S, Okazawa H (January 2015).
1494:
2734:
2419:
Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen HK, Rose MF, Venken KJ, Botas J, Orr HT, Bellen HJ, Zoghbi HY (August 2005).
2345:"CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation"
231:
206:
63:
1419:
1363:
1347:
1258:
1188:
1473:
148:
1293:
345:
244:
1897:
Hong S, Lee S, Cho SG, Kang S (June 2008). "UbcH6 interacts with and ubiquitinates the SCA1 gene product ataxin-1".
2023:
Klee EW, Alexander N, Bainbridge MN, Orr HT, Sillitoe RV, Ljungberg MC, Liu Z, Schaaf CP, Zoghbi HY (April 2017).
338:
237:
2663:"HMGB1 facilitates repair of mitochondrial DNA damage and extends the lifespan of mutant ataxin-1 knock-in mice"
2721:
924:
156:
2245:"Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice"
2421:"The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins"
1671:"Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1"
1442:
905:
2712:
2025:"Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans"
2601:
Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, Hill DE, Orr HT, Zoghbi HY (April 2008).
2614:
1351:
1221:
220:
135:
2740:
2294:"Identification of human proteins that modify misfolding and proteotoxicity of pathogenic ataxin-1"
1241:
1090:
1086:
1065:
1061:
1027:
1023:
1002:
994:
1722:"ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology"
2583:
2450:
2274:
2225:
2182:
2151:
Donato SD, Mariotti C, Taroni F (2012-01-01). "Spinocerebellar ataxia type 1". In Dürr SH (ed.).
2097:
1751:
1651:
180:
1094:
1057:
1031:
998:
1276:
The function of Ataxin-1 is not completely understood. It appears to be involved in regulating
2795:
2747:
2692:
2640:
2575:
2540:
2499:
2442:
2401:
2366:
2325:
2292:
Petrakis S, Raskó T, Russ J, Friedrich RP, Stroedicke M, Riechers SP, et al. (Aug 2012).
2266:
2217:
2174:
2164:
2133:
2089:
2054:
2004:
1955:
1914:
1876:
1835:
1786:
1743:
1702:
1643:
1564:
1446:
1416:
1192:
590:
583:
128:
56:
1932:
Koshy B, Matilla T, Burright EN, Merry DE, Fischbeck KH, Orr HT, Zoghbi HY (September 1996).
2682:
2674:
2630:
2622:
2603:"Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1"
2567:
2530:
2519:"Proteasome function is inhibited by polyglutamine-expanded ataxin-1, the SCA1 gene product"
2489:
2481:
2432:
2393:
2356:
2315:
2305:
2256:
2209:
2156:
2125:
2081:
2044:
2036:
1994:
1986:
1945:
1906:
1866:
1855:"p80 coilin, a coiled body-specific protein, interacts with ataxin-1, the SCA1 gene product"
1825:
1817:
1778:
1733:
1692:
1682:
1635:
1556:
425:
356:
300:
255:
176:
1277:
1264:
400:
2618:
2243:
Klement IA, Skinner PJ, Kaytor MD, Yi H, Hersch SM, Clark HB, Zoghbi HY, Orr HT (1998).
2687:
2662:
2635:
2602:
2494:
2469:
2468:
Mizutani A, Wang L, Rajan H, Vig PJ, Alaynick WA, Thaler JP, Tsai CC (September 2005).
2320:
2293:
2160:
2049:
2024:
1999:
1974:
1830:
1805:
1697:
1670:
1450:
1267:
site which regulates the protein's stability and interactions with its binding partners
39:
2535:
2518:
2261:
2244:
2213:
1871:
1854:
794:
789:
784:
779:
774:
769:
764:
759:
754:
749:
744:
739:
734:
718:
713:
708:
703:
698:
693:
688:
683:
667:
662:
657:
652:
647:
642:
637:
632:
2784:
2774:
2756:
1430:
1196:
619:
2717:
2587:
2454:
2229:
2186:
2101:
1755:
1655:
1597:"Atx-1 - Ataxin 1 - Drosophila melanogaster (Fruit fly) - Atx-1 gene & protein"
1386:
1281:
418:
197:
160:
2278:
2310:
184:
1534:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1516:
National Center for
Biotechnology Information, U.S. National Library of Medicine
1382:
1195:
disease characterized by a progressive loss of cerebellar neurons, particularly
2437:
2420:
1910:
1806:"Development and application of a DNA microarray-based yeast two-hybrid system"
1782:
1738:
1721:
1453:
and the motor deficits, and extends the lifespan of these mutant ataxin1 mice.
501:
2397:
2200:
Shastry BS (July 2003). "Neurodegenerative disorders of protein aggregation".
1990:
1438:
1390:
1355:
1319:
317:
214:
164:
2485:
2470:"Boat, an AXH domain protein, suppresses the cytotoxicity of mutant ataxin-1"
2678:
2129:
1359:
824:
561:
439:
384:
371:
283:
270:
172:
2696:
2644:
2579:
2544:
2503:
2446:
2405:
2370:
2361:
2344:
2329:
2221:
2178:
2093:
2085:
2058:
2008:
1950:
1933:
1918:
1880:
1839:
1790:
1747:
1706:
1687:
2270:
2137:
1959:
1821:
1647:
1568:
1158:
1153:
1596:
1142:
969:
950:
2626:
2761:
2751:
1639:
1301:
1174:
936:
891:
2571:
1560:
105:
101:
97:
93:
89:
85:
1427:
1324:
1307:
1126:
846:
17:
2040:
1423:
1408:
1210:
is conserved across multiple species, including humans, mice, and
809:
805:
1859:
Biochimica et
Biophysica Acta (BBA) - Molecular Basis of Disease
1330:
1225:
1181:
152:
2155:. Ataxic Disorders. Vol. 103. Elsevier. pp. 399–421.
599:
2713:
1434:
2746:
Overview of all the structural information available in the
1236:
Notable features of the Ataxin-1 protein structure include:
1362:
degenerate over the course of years or decades. SCA1 is a
780:
negative regulation of transcription by RNA polymerase II
408:
1445:. The impairment of HMGB1 function leads to increased
1433:. HMGB1 is a crucial nuclear protein that regulates
573:
1899:
1771:
1079:
1050:
1016:
987:
745:
negative regulation of transcription, DNA-templated
1490:
1488:
1486:
1469:
1467:
1465:
1244:of variable length, encoded by the CAG repeat in
355:
254:
2517:Park Y, Hong S, Kim SJ, Kang S (February 2005).
1853:Hong S, Ka S, Kim S, Park Y, Kang S (May 2003).
1354:, fatal genetic disease in which neurons in the
2656:
2654:
1975:"Regulation and function of capicua in mammals"
1892:
1890:
27:Protein-coding gene in the species Homo sapiens
1495:GRCm38: Ensembl release 89: ENSMUSG00000046876
8:
1474:GRCh38: Ensembl release 89: ENSG00000124788
2771:United States National Library of Medicine
820:
750:regulation of transcription, DNA-templated
615:
458:Skeletal muscle tissue of rectus abdominis
396:
295:
192:
74:
2720:at the U.S. National Library of Medicine
2686:
2634:
2534:
2493:
2436:
2360:
2319:
2309:
2260:
2048:
1998:
1949:
1870:
1829:
1737:
1696:
1686:
1366:caused by expansion of the CAG repeat in
2769:This article incorporates text from the
1314:Glyceraldehyde 3-phosphate dehydrogenase
482:Skeletal muscle tissue of biceps brachii
1461:
29:
1979:Experimental & Molecular Medicine
360:
321:
316:
259:
218:
213:
7:
2074:Molecular and Cellular Neurosciences
1620:
1618:
1616:
1437:architectural changes essential for
1399:Altered protein-protein interactions
2349:The Journal of Biological Chemistry
1675:The Journal of Biological Chemistry
2161:10.1016/B978-0-444-51892-7.00025-5
1177:which in humans is encoded by the
1076:
1047:
1013:
984:
960:
941:
915:
896:
870:
851:
578:
496:
434:
413:
25:
699:nuclear RNA export factor complex
1669:Zoghbi HY, Orr HT (March 2009).
795:anatomical structure development
589:
582:
344:
337:
331:
308:
243:
236:
230:
205:
38:
1220:is located on the short arm of
139:, ATX1, D6S504E, SCA1, ataxin 1
2153:Handbook of Clinical Neurology
1549:Cytogenetics and Cell Genetics
600:More reference expression data
562:More reference expression data
1:
2536:10.1016/S1016-8478(23)13132-3
2262:10.1016/s0092-8674(00)81781-x
2214:10.1016/s0197-0186(02)00196-1
1872:10.1016/s0925-4439(03)00038-3
1583:"Entrez Gene: ATXN1 ataxin 1"
1420:spinocerebellar ataxia type 1
1364:trinucleotide repeat disorder
1348:spinocerebellar ataxia type 1
1259:nuclear localization sequence
1189:spinocerebellar ataxia type 1
329:
228:
2386:Journal of Molecular Biology
2311:10.1371/journal.pgen.1002897
2202:Neurochemistry International
1252:protein-protein interactions
1187:Mutations in ataxin-1 cause
755:transcription, DNA-templated
2791:Genes on human chromosome 6
1292:Ataxin 1 has been shown to
2812:
2739:gene details page in the
2438:10.1016/j.cell.2005.06.012
1911:10.1016/j.bbrc.2008.04.066
1783:10.1016/j.bbrc.2014.05.063
1739:10.1016/j.cell.2006.11.038
1415:Mutant ataxin1 causes the
790:nervous system development
653:protein C-terminus binding
520:lateral geniculate nucleus
2398:10.1016/j.jmb.2005.09.083
1991:10.1038/s12276-020-0411-3
1530:"Mouse PubMed Reference:"
1512:"Human PubMed Reference:"
1417:neurodegenerative disease
1254:, known as the AXH domain
1157:
1152:
1148:
1141:
1125:
1106:
1083:
1054:
1043:
1020:
991:
980:
967:
963:
948:
944:
935:
922:
918:
903:
899:
890:
877:
873:
858:
854:
845:
830:
823:
819:
803:
785:lung alveolus development
663:identical protein binding
618:
614:
597:
581:
572:
559:
524:medial geniculate nucleus
508:
499:
446:
437:
407:
399:
395:
378:
365:
328:
307:
298:
294:
277:
264:
227:
204:
195:
191:
146:
143:
133:
126:
121:
82:
77:
60:
55:
50:
46:
37:
32:
2722:Medical Subject Headings
2486:10.1038/sj.emboj.7600785
2118:Human Molecular Genetics
1938:Human Molecular Genetics
1250:A region which mediates
638:protein self-association
2679:10.15252/emmm.201404392
2560:Journal of Cell Science
1346:is the gene mutated in
1119:Chr 13: 45.7 – 46.12 Mb
2362:10.1074/jbc.M601603200
2086:10.1006/mcne.2002.1103
1810:Nucleic Acids Research
1688:10.1074/jbc.r800041200
1224:. The gene contains 9
1112:Chr 6: 16.3 – 16.76 Mb
694:nuclear inclusion body
548:triceps brachii muscle
532:lateral septal nucleus
362:13 A5|13 21.98 cM
2130:10.1093/hmg/2.12.2123
516:medial dorsal nucleus
323:Chromosome 13 (mouse)
2733:genome location and
1973:Lee Y (April 2020).
1951:10.1093/hmg/5.9.1311
1352:dominantly-inherited
466:orbitofrontal cortex
221:Chromosome 6 (human)
78:List of PDB id codes
51:Available structures
2741:UCSC Genome Browser
2627:10.1038/nature06731
2619:2008Natur.452..713L
2523:Molecules and Cells
1822:10.1093/nar/gks1329
1242:polyglutamine tract
668:poly(U) RNA binding
474:epithelium of colon
462:germinal epithelium
2773:, which is in the
2760:(Ataxin-1) at the
1640:10.1038/ng0793-221
925:ENSMUSG00000046876
728:Biological process
677:Cellular component
626:Molecular function
528:olfactory tubercle
2572:10.1242/jcs.01611
1561:10.1159/000133291
1447:mitochondrial DNA
1439:DNA damage repair
1193:neurodegenerative
1173:is a DNA-binding
1168:
1167:
1164:
1163:
1137:
1136:
1102:
1101:
1073:
1072:
1039:
1038:
1010:
1009:
976:
975:
957:
956:
931:
930:
912:
911:
886:
885:
867:
866:
815:
814:
760:brain development
610:
609:
606:
605:
568:
567:
555:
554:
540:nucleus accumbens
493:
492:
391:
390:
290:
289:
185:ATXN1 - orthologs
117:
116:
113:
112:
61:Ortholog search:
16:(Redirected from
2803:
2701:
2700:
2690:
2658:
2649:
2648:
2638:
2598:
2592:
2591:
2566:(Pt 1): 233–42.
2555:
2549:
2548:
2538:
2514:
2508:
2507:
2497:
2474:The EMBO Journal
2465:
2459:
2458:
2440:
2416:
2410:
2409:
2381:
2375:
2374:
2364:
2355:(36): 26714–24.
2340:
2334:
2333:
2323:
2313:
2289:
2283:
2282:
2264:
2240:
2234:
2233:
2197:
2191:
2190:
2148:
2142:
2141:
2112:
2106:
2105:
2069:
2063:
2062:
2052:
2019:
2013:
2012:
2002:
1970:
1964:
1963:
1953:
1929:
1923:
1922:
1894:
1885:
1884:
1874:
1850:
1844:
1843:
1833:
1801:
1795:
1794:
1766:
1760:
1759:
1741:
1717:
1711:
1710:
1700:
1690:
1666:
1660:
1659:
1622:
1611:
1610:
1608:
1607:
1593:
1587:
1586:
1579:
1573:
1572:
1544:
1538:
1537:
1526:
1520:
1519:
1508:
1502:
1492:
1481:
1471:
1197:Purkinje neurons
1150:
1149:
1121:
1114:
1097:
1077:
1068:
1048:
1044:RefSeq (protein)
1034:
1014:
1005:
985:
961:
942:
916:
897:
871:
852:
821:
616:
602:
593:
586:
579:
564:
504:
502:Top expressed in
497:
486:cartilage tissue
470:Brodmann area 46
454:Brodmann area 23
450:endothelial cell
442:
440:Top expressed in
435:
414:
397:
387:
374:
363:
348:
341:
335:
324:
312:
296:
286:
273:
262:
247:
240:
234:
223:
209:
193:
187:
138:
131:
108:
75:
69:
48:
47:
42:
30:
21:
2811:
2810:
2806:
2805:
2804:
2802:
2801:
2800:
2781:
2780:
2709:
2704:
2660:
2659:
2652:
2613:(7188): 713–8.
2600:
2599:
2595:
2557:
2556:
2552:
2516:
2515:
2511:
2480:(18): 3339–51.
2467:
2466:
2462:
2418:
2417:
2413:
2383:
2382:
2378:
2342:
2341:
2337:
2304:(8): e1002897.
2291:
2290:
2286:
2242:
2241:
2237:
2199:
2198:
2194:
2171:
2150:
2149:
2145:
2114:
2113:
2109:
2071:
2070:
2066:
2041:10.1038/ng.3808
2029:Nature Genetics
2021:
2020:
2016:
1972:
1971:
1967:
1931:
1930:
1926:
1896:
1895:
1888:
1852:
1851:
1847:
1816:(3): 1496–507.
1803:
1802:
1798:
1768:
1767:
1763:
1719:
1718:
1714:
1668:
1667:
1663:
1628:Nature Genetics
1624:
1623:
1614:
1605:
1603:
1601:www.uniprot.org
1595:
1594:
1590:
1581:
1580:
1576:
1546:
1545:
1541:
1528:
1527:
1523:
1510:
1509:
1505:
1493:
1484:
1472:
1463:
1459:
1413:
1401:
1379:
1341:
1339:Role in disease
1336:
1290:
1278:gene expression
1274:
1265:phosphorylation
1234:
1205:
1191:, an inherited
1159:View/Edit Mouse
1154:View/Edit Human
1117:
1110:
1107:Location (UCSC)
1093:
1089:
1085:
1064:
1060:
1056:
1030:
1026:
1022:
1001:
997:
993:
906:ENSG00000124788
799:
775:social behavior
723:
672:
658:protein binding
633:poly(G) binding
598:
588:
587:
560:
551:
546:
544:temporal muscle
542:
538:
534:
530:
526:
522:
518:
514:
512:dorsal striatum
500:
489:
484:
480:
476:
472:
468:
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438:
382:
369:
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299:Gene location (
281:
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196:Gene location (
147:
134:
127:
84:
62:
28:
23:
22:
15:
12:
11:
5:
2809:
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2707:External links
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2411:
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2192:
2169:
2143:
2124:(12): 2123–8.
2107:
2080:(2): 298–306.
2064:
2035:(4): 527–536.
2014:
1985:(4): 531–537.
1965:
1924:
1886:
1845:
1796:
1777:(4): 399–404.
1761:
1732:(7): 1335–47.
1712:
1681:(12): 7425–9.
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80:
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71:
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59:
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44:
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34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2808:
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2792:
2789:
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2775:public domain
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2716:
2714:
2711:
2710:
2706:
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2680:
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2673:(1): 78–101.
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2642:
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2628:
2624:
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2431:(4): 633–44.
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2399:
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2392:(4): 883–93.
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2298:PLOS Genetics
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2018:
2015:
2010:
2006:
2001:
1996:
1992:
1988:
1984:
1980:
1976:
1969:
1966:
1961:
1957:
1952:
1947:
1944:(9): 1311–8.
1943:
1939:
1935:
1928:
1925:
1920:
1916:
1912:
1908:
1905:(2): 256–60.
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1456:
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1452:
1448:
1444:
1443:transcription
1440:
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1190:
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1082:
1078:
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1059:
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1049:
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1042:
1035:
1033:
1029:
1025:
1019:
1015:
1012:
1006:
1004:
1000:
996:
990:
986:
983:
981:RefSeq (mRNA)
979:
972:
971:
966:
962:
959:
953:
952:
947:
943:
940:
938:
934:
927:
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651:
649:
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641:
639:
636:
634:
631:
630:
628:
625:
624:
621:
620:Gene ontology
617:
613:
601:
596:
592:
585:
580:
577:
575:
571:
563:
558:
547:
543:
539:
536:parotid gland
535:
531:
527:
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519:
515:
511:
510:
507:
503:
498:
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485:
481:
477:
473:
469:
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461:
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453:
449:
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445:
441:
436:
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432:
429:
427:
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402:
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377:
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368:
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327:
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306:
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297:
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233:
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216:
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162:
158:
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150:
142:
137:
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125:
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109:
107:
103:
99:
95:
91:
87:
81:
76:
73:
72:
68:
65:
58:
54:
49:
45:
41:
36:
31:
19:
2768:
2767:
2755:
2735:
2729:
2670:
2667:EMBO Mol Med
2666:
2610:
2606:
2596:
2563:
2559:
2553:
2529:(1): 23–30.
2526:
2522:
2512:
2477:
2473:
2463:
2428:
2424:
2414:
2389:
2385:
2379:
2352:
2348:
2338:
2301:
2297:
2287:
2255:(1): 41–53.
2252:
2248:
2238:
2205:
2201:
2195:
2152:
2146:
2121:
2117:
2110:
2077:
2073:
2067:
2032:
2028:
2017:
1982:
1978:
1968:
1941:
1937:
1927:
1902:
1898:
1865:(1): 35–42.
1862:
1858:
1848:
1813:
1809:
1799:
1774:
1770:
1764:
1729:
1725:
1715:
1678:
1674:
1664:
1634:(3): 221–6.
1631:
1627:
1604:. Retrieved
1600:
1591:
1577:
1552:
1548:
1542:
1533:
1524:
1515:
1506:
1431:mitochondria
1414:
1402:
1395:
1380:
1372:
1367:
1343:
1342:
1291:
1288:Interactions
1282:RNA splicing
1275:
1245:
1235:
1222:chromosome 6
1217:
1215:
1211:
1207:
1206:
1186:
1178:
1170:
1169:
1091:NP_001186234
1087:NP_001186233
1084:
1066:NP_001344786
1062:NP_001121636
1055:
1028:NM_001199305
1024:NM_001199304
1021:
1003:NM_001357857
995:NM_001128164
992:
968:
949:
923:
904:
878:
859:
839:
834:
424:
417:
144:External IDs
83:
1555:(1): 37–9.
1411:interaction
1377:Aggregation
1284:machinery.
1216:In humans,
1212:Drosophila.
709:nucleoplasm
648:RNA binding
643:DNA binding
383:46,118,484
370:45,703,231
282:16,761,491
269:16,299,112
122:Identifiers
2785:Categories
2208:(1): 1–7.
1606:2018-01-11
1501:, May 2017
1480:, May 2017
1457:References
1391:huntingtin
1360:brain stem
1356:cerebellum
1350:(SCA1), a
428:(ortholog)
165:HomoloGene
1232:Structure
1095:NP_033150
1058:NP_000323
1032:NM_009124
999:NM_000332
825:Orthologs
714:nucleolus
684:cytoplasm
173:GeneCards
2796:Proteins
2718:ataxin-1
2697:25510912
2645:18337722
2588:14401082
2580:15615787
2545:15750336
2504:16121196
2455:16706329
2447:16122429
2406:16277991
2371:16831871
2330:22916034
2230:31191916
2222:12605877
2187:68966133
2179:21827903
2102:41295664
2094:12093161
2059:28288114
2009:32238859
1919:18439907
1881:12757932
1840:23275563
1791:24858692
1756:14900395
1748:17190598
1707:18957430
1497:–
1476:–
1294:interact
1272:Function
1203:Genetics
1171:Ataxin-1
1143:Wikidata
804:Sources:
765:learning
2762:PDBe-KB
2752:UniProt
2688:4309669
2636:2377396
2615:Bibcode
2495:1224676
2321:3420947
2271:9778246
2138:8111382
2050:5374026
2000:7210929
1960:8872471
1831:3561971
1698:2658037
1656:8877695
1648:8358429
1569:1582256
1499:Ensembl
1478:Ensembl
1302:C2orf27
1175:protein
937:UniProt
892:Ensembl
831:Species
810:QuickGO
719:cytosol
704:nucleus
403:pattern
129:Aliases
2757:P54253
2727:Human
2724:(MeSH)
2695:
2685:
2643:
2633:
2607:Nature
2586:
2578:
2543:
2502:
2492:
2453:
2445:
2404:
2369:
2328:
2318:
2279:638016
2277:
2269:
2228:
2220:
2185:
2177:
2167:
2136:
2100:
2092:
2057:
2047:
2007:
1997:
1958:
1917:
1879:
1838:
1828:
1789:
1754:
1746:
1705:
1695:
1654:
1646:
1567:
1428:neuron
1389:, and
1325:UBE2E1
1308:Coilin
1296:with:
1246:ATXN1.
1129:search
1127:PubMed
970:P54254
951:P54253
847:Entrez
770:memory
574:BioGPS
261:6p22.3
161:104783
153:601556
2736:ATXN1
2730:ATXN1
2584:S2CID
2451:S2CID
2275:S2CID
2226:S2CID
2183:S2CID
2098:S2CID
1752:S2CID
1652:S2CID
1426:) in
1424:HMGB1
1409:HMGB1
1368:ATXN1
1344:ATXN1
1327:, and
1226:exons
1218:ATXN1
1208:ATXN1
1179:ATXN1
880:20238
840:Mouse
835:Human
806:Amigo
426:Mouse
419:Human
366:Start
301:Mouse
265:Start
198:Human
177:ATXN1
136:ATXN1
33:ATXN1
18:SCA-1
2750:for
2693:PMID
2641:PMID
2576:PMID
2541:PMID
2500:PMID
2443:PMID
2425:Cell
2402:PMID
2367:PMID
2326:PMID
2267:PMID
2249:Cell
2218:PMID
2175:PMID
2165:ISBN
2134:PMID
2090:PMID
2055:PMID
2005:PMID
1956:PMID
1915:PMID
1877:PMID
1863:1638
1836:PMID
1787:PMID
1744:PMID
1726:Cell
1703:PMID
1644:PMID
1565:PMID
1441:and
1358:and
1331:USP7
1182:gene
861:6310
409:Bgee
357:Band
318:Chr.
256:Band
215:Chr.
149:OMIM
106:2M41
102:4J2L
98:4J2J
94:4AQP
90:4APT
86:1OA8
67:RCSB
64:PDBe
2748:PDB
2683:PMC
2675:doi
2631:PMC
2623:doi
2611:452
2568:doi
2564:118
2531:doi
2490:PMC
2482:doi
2433:doi
2429:122
2394:doi
2390:354
2357:doi
2353:281
2316:PMC
2306:doi
2257:doi
2210:doi
2157:doi
2126:doi
2082:doi
2045:PMC
2037:doi
1995:PMC
1987:doi
1946:doi
1907:doi
1903:371
1867:doi
1826:PMC
1818:doi
1779:doi
1775:449
1734:doi
1730:127
1693:PMC
1683:doi
1679:284
1636:doi
1557:doi
1435:DNA
1383:tau
1320:CIC
1199:.
379:End
278:End
181:OMA
169:281
157:MGI
57:PDB
2787::
2754::
2691:.
2681:.
2669:.
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