1954:
thought to contribute to the development of
Huntington disease. However, later research raised questions about the role of the inclusions (clumps) by showing the presence of visible NIIs extended the life of neurons and acted to reduce intracellular mutant huntingtin in neighboring neurons. One confounding factor is that different types of aggregates are now recognised to be formed by the mutant protein, including protein deposits that are too small to be recognised as visible deposits in the above-mentioned studies. The likelihood of neuronal death remains difficult to predict. Likely multiple factors are important, including: (1) the length of CAG repeats in the huntingtin gene and (2) the neuron's exposure to diffuse intracellular mutant huntingtin protein. NIIs (protein clumping) can be helpful as a coping mechanism—and not simply a pathogenic mechanism—to stem neuronal death by decreasing the amount of diffuse huntingtin. This process is particularly likely to occur in the
358:
335:
257:
232:
609:
364:
263:
29:
1973:
As the altered gene is passed from one generation to the next, the size of the CAG repeat expansion can change; it often increases in size, especially when it is inherited from the father. People with 28 to 35 CAG repeats have not been reported to develop the disorder, but their children are at risk
1953:
Enzymes in the cell often cut this elongated protein into fragments. The protein fragments form abnormal clumps, known as neuronal intranuclear inclusions (NIIs), inside nerve cells, and may attract other, normal proteins into the clumps. The characteristic presence of these clumps in patients was
1965:
People with 36 to 40 CAG repeats may or may not develop the signs and symptoms of
Huntington disease, while people with more than 40 repeats will develop the disorder during a normal lifetime. When there are more than 60 CAG repeats, the person develops a severe form of HD known as
55:
1932:
Huntington's disease (HD) is caused by a mutated form of the huntingtin gene, where excessive (more than 36) CAG repeats result in formation of an unstable protein. These expanded repeats lead to production of a huntingtin protein that contains an abnormally long
2720:
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig AH, Büssow K, Buessow K, Coleman SH, Gutekunst CA,
1945:
residues beginning at the 18th amino acid. In unaffected individuals, this contains between 9 and 35 glutamine residues with no adverse effects. However, 36 or more residues produce an erroneous mutant form of Htt, (mHtt). Reduced
1442:, of which six are used for transcription, four for transport, three for cell signalling, and six others of unknown function (HIP5, HIP11, HIP13, HIP15, HIP16, and CGI-125). Over 100 interacting proteins have been found, such as
2465:
Hoffner G, Kahlem P, Djian P (March 2002). "Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to
Huntington's disease".
371:
270:
2121:
3277:
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR (Nov 2002).
4017:
MacDonald ME, Novelletto A, Lin C, Tagle D, Barnes G, Bates G, Taylor S, Allitto B, Altherr M, Myers R (May 1992). "The
Huntington's disease candidate region exhibits many different haplotypes".
1970:. Therefore, the number of CAG (the sequence coding for the amino acid glutamine) repeats influences the age of onset of the disease. No case of HD has been diagnosed with a count less than 36.
3509:
Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR (Feb 1997).
2550:
Velier J, Kim M, Schwarz C, Kim TW, Sapp E, Chase K, et al. (July 1998). "Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways".
3754:
Kosinski CM, Schlangen C, Gellerich FN, Gizatullina Z, Deschauer M, Schiefer J, et al. (August 2007). "Myopathy as a first symptom of
Huntington's disease in a Marathon runner".
1299:), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250). Its commonly used name is derived from this disease; previously, the
2422:
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, et al. (July 2001). "Loss of huntingtin-mediated BDNF gene transcription in
Huntington's disease".
2073:"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group"
1310:. Normal huntingtin is generally accepted to be 3144 amino acids in size. The exact function of this protein is not known, but it plays an important role in
1314:. Within cells, huntingtin may or may not be involved in signaling, transporting materials, binding proteins and other structures, and protecting against
982:
3511:"Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses"
963:
193:
2264:"Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes"
4258:
2050:
2032:
1837:
2336:
Vitet H, Brandt V, Saudou F (August 2020). "Traffic signaling: new functions of huntingtin and axonal transport in neurological disease".
4223:
52:
4263:
1306:
The mass of huntingtin protein is dependent largely on the number of glutamine residues it has; the predicted mass is around 350
1292:(normal) form, the polymorphic locus contains 6-35 glutamine residues. However, in individuals affected by Huntington's disease (an
2851:
Steffan JS, Kazantsev A, Spasic-Boskovic O, Greenwald M, Zhu YZ, Gohler H, Wanker EE, Bates GP, Housman DE, Thompson LM (Jun 2000).
2238:
1193:
2595:"The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis"
1186:
4134:
Rangone H, Humbert S, Saudou F (Jul 2004). "Huntington's disease: how does huntingtin, an anti-apoptotic protein, become toxic?".
1386:
with other proteins and is highly expressed in neurons and testes in humans and rodents. Huntingtin upregulates the expression of
2379:
Cattaneo E, Zuccato C, Tartari M (December 2005). "Normal huntingtin function: an alternative approach to
Huntington's disease".
1390:(BDNF) at the transcription level, but the mechanism by which huntingtin regulates gene expression has not been determined. From
4268:
3370:
Maiuri, Tamara; Mocle, Andrew J.; Hung, Claudia L.; Xia, Jianrun; van Roon-Mom, Willeke M. C.; Truant, Ray (25 December 2016).
3550:
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (Aug 1997).
2262:
Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (Jun 1995).
1335:
3552:"Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation"
3220:"Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease"
2015:
4283:
2912:"PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains"
1941:
or polyglutamine disorders. The key sequence which is found in
Huntington's disease is a trinucleotide repeat expansion of
1516:
2953:"SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates"
4246:
3041:
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR (Aug 1996).
1994:
2685:
Harjes P, Wanker EE (Aug 2003). "The hunt for huntingtin function: interaction partners tell many different stories".
2951:
Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (Oct 1998).
2144:"Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia"
1387:
4293:
357:
1967:
1422:, the trafficking of materials into a cell. Huntingtin has also been shown to have a role in the establishment in
3280:"HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis"
2019:
1998:
1646:
1581:
1443:
334:
3896:"Huntingtin and the molecular pathogenesis of Huntington's disease. Fourth in molecular medicine review series"
1938:
1871:
Classification of the trinucleotide repeat, and resulting disease status, depends on the number of CAG repeats
1027:
2315:
1008:
256:
231:
173:
2853:"The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription"
2812:"SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes"
2727:"A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease"
4230:
1829:
1767:
3650:"Delayed Emergence of Subdiffraction-Sized Mutant Huntingtin Fibrils Following Inclusion Body Formation"
2636:"Huntingtin Is Required for Epithelial Polarity through RAB11A-Mediated Apical Trafficking of PAR3-aPKC"
1326:. It is expressed in many tissues in the body, with the highest levels of expression seen in the brain.
1277:(HD), and has been investigated for this role and also for its involvement in long-term memory storage.
4213:
2072:
2766:
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Wälter S, Tait D, Colicelli J, Lehrach H (Mar 1997).
370:
269:
3857:
Gárdián G, Vécsei L (Oct 2004). "Huntington's disease: pathomechanism and therapeutic perspectives".
1833:
1399:
3321:"Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications"
363:
262:
160:
4217:
1752:
1101:
181:
1342:
gene has a sequence of three DNA bases, cytosine-adenine-guanine (CAG), coding for the amino acid
4288:
3413:"Role of oxidative DNA damage in mitochondrial dysfunction and Huntington's disease pathogenesis"
2593:
Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, et al. (August 2001).
1865:
1853:
1841:
1382:. Huntingtin is essential for development, and its absence is lethal in mice. The protein has no
1274:
1169:
1148:
1122:
1097:
2722:
2203:"Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease"
1281:
848:
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
3601:"Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death"
3125:"FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis"
2503:"Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons"
1319:
3708:
3612:
3231:
2864:
2155:
1503:
1451:
1391:
1358:
1347:
245:
8:
2202:
2142:
Choi YB, Kadakkuzha BM, Liu XA, Akhmedov K, Kandel ER, Puthanveettil SV (July 23, 2014).
2070:
1937:
at the N-terminus. This makes it part of a class of neurodegenerative disorders known as
1934:
1825:
1455:
1423:
1395:
201:
4054:
MacDonald ME (Nov 2003). "Huntingtin: alive and well and working in middle management".
3943:
Philosophical
Transactions of the Royal Society of London. Series B, Biological Sciences
3712:
3616:
3428:
3235:
3043:"Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme"
2868:
2159:
1402:
studies of the molecule, it has been found that huntingtin is primarily associated with
4079:
4042:
4005:
3963:
3938:
3920:
3895:
3882:
3816:
3779:
3732:
3676:
3649:
3581:
3488:
3437:
3412:
3347:
3320:
3154:
2662:
2635:
2575:
2532:
2447:
2404:
2361:
2293:
2230:
2178:
2143:
2113:
1410:. These appear to indicate a functional role in cytoskeletal anchoring or transport of
1293:
205:
4189:
4164:
4117:
4092:
3804:
3568:
3551:
3476:
3372:"Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex"
3254:
3219:
3141:
3124:
3018:
2993:
2969:
2952:
2698:
897:
892:
887:
882:
877:
872:
867:
862:
857:
852:
847:
842:
837:
832:
827:
822:
817:
812:
796:
791:
786:
781:
776:
771:
766:
761:
756:
751:
746:
741:
736:
731:
726:
721:
716:
700:
695:
690:
685:
680:
675:
670:
665:
660:
655:
650:
4194:
4151:
4122:
4071:
4034:
3997:
3968:
3925:
3874:
3845:
3808:
3771:
3724:
3681:
3630:
3573:
3532:
3480:
3442:
3393:
3352:
3301:
3259:
3200:
3146:
3105:
3084:"Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin"
3064:
3023:
2974:
2933:
2892:
2887:
2852:
2833:
2789:
2748:
2702:
2667:
2616:
2567:
2524:
2519:
2502:
2483:
2439:
2396:
2365:
2353:
2285:
2280:
2263:
2222:
2183:
2105:
2091:
1403:
1383:
153:
45:
4083:
4046:
4009:
3828:
Cattaneo E (Feb 2003). "Dysfunction of wild-type huntingtin in
Huntington disease".
3783:
3492:
3158:
3009:
2579:
2536:
2451:
2408:
2297:
2234:
1832:
oxidative DNA damage response complex. Mutant huntingtin (mHtt) plays a key role in
4184:
4176:
4143:
4112:
4104:
4063:
4026:
3989:
3958:
3950:
3915:
3907:
3886:
3866:
3837:
3820:
3800:
3791:
Bates G (May 2003). "Huntingtin aggregation and toxicity in Huntington's disease".
3763:
3716:
3671:
3661:
3620:
3563:
3522:
3472:
3432:
3424:
3383:
3342:
3332:
3291:
3249:
3239:
3190:
3136:
3095:
3054:
3013:
3005:
2964:
2923:
2882:
2872:
2823:
2779:
2738:
2694:
2657:
2647:
2606:
2559:
2514:
2501:
DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. (May 1995).
2475:
2431:
2388:
2345:
2275:
2214:
2173:
2163:
2095:
2087:
1845:
1379:
1307:
1296:
450:
381:
325:
280:
3736:
3585:
2117:
1414:. The Htt protein is involved in vesicle trafficking as it interacts with HIP1, a
185:
4234:
4147:
2768:"HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system"
2743:
2726:
2652:
2168:
425:
209:
2055:
National Center for Biotechnology Information, U.S. National Library of Medicine
2037:
National Center for Biotechnology Information, U.S. National Library of Medicine
4067:
3224:
Proceedings of the National Academy of Sciences of the United States of America
2857:
Proceedings of the National Academy of Sciences of the United States of America
2349:
1959:
526:
3870:
3666:
3177:
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (Sep 1998).
2994:"Interaction of Huntington disease protein with transcriptional activator Sp1"
1378:
The function of huntingtin (Htt) is not well understood but it is involved in
4277:
3993:
3980:
Li SH, Li XJ (Oct 2004). "Huntingtin and its role in neuronal degeneration".
3911:
3296:
3279:
3059:
3042:
2928:
2911:
2611:
2594:
2201:
Nance MA, Mathias-Hagen V, Breningstall G, Wick MJ, McGlennen RC (Jan 1999).
1849:
637:
4108:
3841:
3244:
3218:
Holbert S, Dedeoglu A, Humbert S, Saudou F, Ferrante RJ, Néri C (Mar 2003).
2828:
2811:
2435:
586:
464:
4198:
4155:
4126:
4075:
4001:
3972:
3954:
3929:
3878:
3849:
3812:
3775:
3728:
3685:
3634:
3484:
3446:
3397:
3356:
3337:
3305:
3263:
3195:
3178:
3150:
3109:
3100:
3083:
3027:
2937:
2896:
2877:
2752:
2706:
2671:
2620:
2563:
2487:
2443:
2400:
2357:
2187:
1411:
1407:
608:
443:
222:
4038:
3699:
Orr HT (Oct 2004). "Neurodegenerative disease: neuron protection agency".
3577:
3536:
3527:
3510:
3204:
3068:
2978:
2837:
2793:
2784:
2767:
2571:
2528:
2479:
2289:
2226:
2109:
1233:
1228:
3388:
3371:
2218:
2100:
1419:
1072:
1053:
3625:
3600:
2850:
3599:
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (Oct 2004).
2910:
Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M (Oct 2002).
1947:
1787:
1555:
1311:
342:
239:
189:
4030:
3767:
1438:
Huntingtin has been found to interact directly with at least 19 other
130:
126:
122:
118:
114:
110:
106:
102:
98:
94:
90:
86:
82:
78:
74:
4180:
3753:
1942:
1362:
1343:
1315:
1289:
1285:
927:
818:
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
409:
396:
308:
295:
197:
3720:
2392:
2592:
1958:(a part of the brain that coordinates movement) primarily, and the
1955:
1439:
1415:
1322:. The huntingtin protein is required for normal development before
1267:
1217:
2311:
2200:
2071:
The Huntington's Disease Collaborative Research Group (Mar 1993).
1659:
3648:
Sahl SJ, Lau L, Vonk WI, Weiss LE, Frydman J, Moerner WE (2016).
1811:
1793:
1781:
1685:
1632:
1252:
1039:
994:
912:
908:
4250:
2765:
177:
4255:
4237: : Huntington's Outreach Project for Education at Stanford
2992:
Li SH, Cheng AL, Zhou H, Lam S, Rao M, Li H, Li XJ (Mar 2002).
2950:
2909:
2421:
2261:
1805:
1726:
1529:
1427:
1201:
949:
617:
28:
4227:
1350:. The usual CAG repeat count is between seven and 35 repeats.
1799:
1739:
1712:
1619:
1542:
1511:
Transcriptional co-activator with acetyltransferase activity
1476:
1447:
1323:
3598:
3549:
3217:
2719:
833:
negative regulation of extrinsic apoptotic signaling pathway
4016:
3508:
3276:
1962:(a part of the brain that controls thinking and emotions).
1775:
1698:
1596:
1568:
1489:
1346:, that is repeated multiple times. This region is called a
1259:
4240:
3179:"Huntingtin interacts with a family of WW domain proteins"
2141:
1974:
of having the disease if the repeat expansion increases.
1672:
2500:
433:
3318:
3176:
3319:
Liu Z, Zhou T, Ziegler AC, Dimitrion P, Zuo L (2017).
3040:
2378:
2633:
598:
4133:
898:
regulation of cAMP-dependent protein kinase activity
2549:
3369:
2464:
2011:
2009:
2007:
1990:
1988:
1986:
3939:"The localization and interactions of huntingtin"
2634:Elias S, McGuire JR, Yu H, Humbert S (May 2015).
2335:
878:regulation of phosphoprotein phosphatase activity
868:positive regulation of autophagy of mitochondrion
380:
279:
16:Gene and protein involved in Huntington's disease
4275:
3647:
3081:
2004:
1983:
4224:The Huntingtin Protein and Protein Aggregation
3504:
3502:
3463:Walker FO (Jan 2007). "Huntington's disease".
3172:
3170:
3168:
3122:
2991:
2805:
2803:
2016:GRCm38: Ensembl release 89: ENSMUSG00000029104
3856:
2257:
2255:
2066:
2064:
1280:It is variable in its structure, as the many
3893:
3692:
3458:
3456:
3404:
3312:
3270:
3211:
3116:
3075:
2985:
2903:
2844:
2809:
2713:
2684:
2678:
2586:
2458:
2415:
2372:
1819:
1284:of the gene can lead to variable numbers of
838:establishment of mitotic spindle orientation
3543:
3499:
3165:
3034:
2944:
2800:
2543:
2494:
1995:GRCh38: Ensembl release 89: ENSG00000197386
3410:
2252:
2194:
2061:
893:regulation of CAMKK-AMPK signaling cascade
4216:at the U.S. National Library of Medicine
4188:
4116:
4053:
3962:
3919:
3675:
3665:
3624:
3567:
3526:
3453:
3436:
3387:
3346:
3336:
3295:
3253:
3243:
3194:
3140:
3099:
3058:
3017:
2968:
2927:
2886:
2876:
2827:
2783:
2742:
2661:
2651:
2610:
2518:
2279:
2177:
2167:
2099:
1450:(HIP1), these were typically found using
3827:
3082:Liu YF, Dorow D, Marshall J (Jun 2000).
1859:
1357:gene is located on the short arm (p) of
1288:residues present in the protein. In its
888:positive regulation of apoptotic process
1576:Growth factor receptor binding protein
4276:
3462:
2759:
843:positive regulation of cilium assembly
4169:The Journal of Clinical Investigation
4162:
4090:
3936:
3790:
2810:Liu YF, Deth RC, Devys D (Mar 1997).
385:
346:
341:
284:
243:
238:
3979:
1537:cdc42-dependent signal transduction
1266:("interesting transcript 15") gene.
4247:Online Mendelian Inheritance in Man
4243:Huntington's Disease Association UK
3698:
3429:10.1016/j.freeradbiomed.2013.04.017
3363:
3088:The Journal of Biological Chemistry
3047:The Journal of Biological Chemistry
2816:The Journal of Biological Chemistry
2725:, Lehrach H, Wanker EE (Sep 2004).
828:vesicle transport along microtubule
13:
4165:"Huntingtin in health and disease"
3746:
1766:Huntingtin has also been shown to
1365:3,074,510 to base pair 3,243,960.
14:
4305:
4207:
1388:brain-derived neurotrophic factor
873:positive regulation of aggrephagy
691:dynein intermediate chain binding
661:transmembrane transporter binding
3894:Landles C, Bates GP (Oct 2004).
1838:mitochondrial electron transport
1693:Endocytosis, actin cytoskeleton
1448:huntingtin interacting protein 1
863:positive regulation of lipophagy
607:
369:
362:
356:
333:
268:
261:
255:
230:
27:
4093:"Huntington's disease genetics"
3641:
3592:
3411:Ayala-Peña S (September 2013).
3010:10.1128/MCB.22.5.1277-1287.2002
2627:
2338:Current Opinion in Neurobiology
2329:
2318:from the original on 2016-02-02
2241:from the original on 2009-05-05
2124:from the original on 2020-03-13
1444:huntingtin-associated protein 1
1433:
782:perinuclear region of cytoplasm
3859:Journal of Neural Transmission
3830:News in Physiological Sciences
2998:Molecular and Cellular Biology
2687:Trends in Biochemical Sciences
2304:
2135:
2043:
2025:
1939:trinucleotide repeat disorders
1721:Ras GTPase activating protein
1654:Nuclear receptor co-repressor
618:More reference expression data
587:More reference expression data
164:, HD, IT15, huntingtin, LOMARS
1:
3805:10.1016/S0140-6736(03)13304-1
3569:10.1016/S0092-8674(00)80513-9
3477:10.1016/S0140-6736(07)60111-1
3142:10.1016/S0960-9822(00)00864-2
3123:Hattula K, Peränen J (2000).
2970:10.1016/S1097-2765(00)80142-2
2699:10.1016/S0968-0004(03)00168-3
1977:
1426:through its interaction with
1418:-binding protein, to mediate
354:
253:
4148:10.1016/j.patbio.2003.06.004
2744:10.1016/j.molcel.2004.09.016
2653:10.1371/journal.pbio.1002142
2520:10.1016/0896-6273(95)90346-1
2381:Nature Reviews. Neuroscience
2281:10.1016/0092-8674(95)90542-1
2169:10.1371/journal.pone.0103004
2092:10.1016/0092-8674(93)90585-E
1836:involving the inhibition of
747:cytoplasmic vesicle membrane
671:transcription factor binding
7:
4284:Genes on human chromosome 4
1869:
1373:
1255:coded for in humans by the
491:stromal cell of endometrium
10:
4310:
4068:10.1126/stke.2003.207.pe48
2350:10.1016/j.conb.2020.04.001
1950:is found in counts 36–39.
1863:
1747:Transcriptional repressor
1627:Endocytosis, proapoptotic
1524:Transcriptional activator
1368:
787:protein-containing complex
701:heat shock protein binding
4214:Huntingtin+protein,+human
3871:10.1007/s00702-004-0201-4
3667:10.1017/S0033583515000219
2051:"Mouse PubMed Reference:"
2033:"Human PubMed Reference:"
1834:mitochondrial dysfunction
1820:Mitochondrial dysfunction
1641:Trafficking, endocytosis
1400:subcellular fractionation
1303:label was commonly used.
1232:
1227:
1223:
1216:
1200:
1181:
1166:
1162:
1145:
1141:
1134:
1119:
1115:
1094:
1090:
1083:
1070:
1066:
1051:
1047:
1038:
1025:
1021:
1006:
1002:
993:
980:
976:
961:
957:
948:
933:
926:
922:
906:
686:identical protein binding
636:
632:
615:
606:
597:
584:
533:
524:
471:
462:
432:
424:
420:
403:
390:
353:
332:
323:
319:
302:
289:
252:
229:
220:
216:
171:
168:
158:
151:
146:
71:
66:
49:
44:
39:
35:
26:
21:
4218:Medical Subject Headings
3994:10.1177/1073858404266777
3912:10.1038/sj.embor.7400250
3515:Human Molecular Genetics
3376:Human Molecular Genetics
3284:Human Molecular Genetics
3183:Human Molecular Genetics
3060:10.1074/jbc.271.32.19385
2916:Human Molecular Genetics
2772:Human Molecular Genetics
2599:Human Molecular Genetics
1707:Postsynaptic Density 95
1467:PolyQ length dependence
813:animal organ development
549:Rostral migratory stream
4109:10.1602/neurorx.1.2.255
3842:10.1152/nips.01410.2002
3245:10.1073/pnas.0437967100
2829:10.1074/jbc.272.13.8121
2468:Journal of Cell Science
2436:10.1126/science.1059581
1850:oxidative damage to DNA
1842:reactive oxygen species
1361:at position 16.3, from
1336:5'-end (five prime end)
1329:
1194:Chr 5: 34.92 – 35.07 Mb
883:protein destabilization
3955:10.1098/rstb.1999.0454
3297:10.1093/hmg/11.23.2815
3101:10.1074/jbc.C000180200
2929:10.1093/hmg/11.21.2547
2878:10.1073/pnas.100110097
2612:10.1093/hmg/10.17.1807
2564:10.1006/exnr.1998.6832
2552:Experimental Neurology
4163:Young AB (Feb 2003).
4091:Myers RH (Apr 2004).
3937:Jones AL (Jun 1999).
3417:Free Radic. Biol. Med
2480:10.1242/jcs.115.5.941
1860:Clinical significance
1760:Transcription factor
1680:Transcription factor
1667:Transcription factor
1589:Membrane trafficking
1550:Transcription factor
1320:programmed cell death
1187:Chr 4: 3.04 – 3.24 Mb
737:endoplasmic reticulum
4294:Huntington's disease
3338:10.1155/2017/2525967
3325:Oxid Med Cell Longev
3196:10.1093/hmg/7.9.1463
2219:10.1212/wnl.52.2.392
1866:Huntington's disease
1854:Huntington's disease
1848:. The promotion of
1464:Interacting Protein
1454:and confirmed using
1452:two-hybrid screening
1392:immunohistochemistry
1348:trinucleotide repeat
1275:Huntington's disease
1262:, also known as the
797:postsynaptic cytosol
681:beta-tubulin binding
569:primary motor cortex
387:5 B2|5 17.92 cM
348:Chromosome 5 (mouse)
246:Chromosome 4 (human)
67:List of PDB id codes
40:Available structures
4136:Pathologie-Biologie
3713:2004Natur.431..747O
3626:10.1038/nature02998
3617:2004Natur.431..805A
3528:10.1093/hmg/6.2.301
3236:2003PNAS..100.2712H
2869:2000PNAS...97.6763S
2785:10.1093/hmg/6.3.487
2160:2014PLoSO...9j3004C
1935:polyglutamine tract
1912:Reduced penetrance
1872:
1840:, higher levels of
1826:scaffolding protein
1563:Cell morphogenesis
1456:immunoprecipitation
1424:epithelial polarity
1396:electron microscopy
792:presynaptic cytosol
565:superior colliculus
483:epithelium of colon
4233:2021-02-12 at the
3982:The Neuroscientist
3865:(10–11): 1485–94.
3756:Movement Disorders
3389:10.1093/hmg/ddw395
1870:
1852:may contribute to
1294:autosomal dominant
1028:ENSMUSG00000029104
823:Golgi organization
806:Biological process
710:Cellular component
644:Molecular function
4031:10.1038/ng0592-99
3768:10.1002/mds.21550
1930:
1929:
1764:
1763:
1384:sequence homology
1243:
1242:
1239:
1238:
1212:
1211:
1177:
1176:
1156:
1155:
1130:
1129:
1109:
1108:
1079:
1078:
1060:
1059:
1034:
1033:
1015:
1014:
989:
988:
970:
969:
918:
917:
853:apoptotic process
628:
627:
624:
623:
593:
592:
580:
579:
557:lactiferous gland
545:entorhinal cortex
541:perirhinal cortex
518:
517:
416:
415:
315:
314:
142:
141:
138:
137:
50:Ortholog search:
4301:
4202:
4192:
4181:10.1172/JCI17742
4159:
4130:
4120:
4087:
4050:
4013:
3976:
3966:
3949:(1386): 1021–7.
3933:
3923:
3890:
3853:
3824:
3799:(9369): 1642–4.
3787:
3741:
3740:
3696:
3690:
3689:
3679:
3669:
3645:
3639:
3638:
3628:
3611:(7010): 805–10.
3596:
3590:
3589:
3571:
3547:
3541:
3540:
3530:
3506:
3497:
3496:
3471:(9557): 218–28.
3460:
3451:
3450:
3440:
3408:
3402:
3401:
3391:
3367:
3361:
3360:
3350:
3340:
3316:
3310:
3309:
3299:
3274:
3268:
3267:
3257:
3247:
3215:
3209:
3208:
3198:
3174:
3163:
3162:
3144:
3120:
3114:
3113:
3103:
3094:(25): 19035–40.
3079:
3073:
3072:
3062:
3053:(32): 19385–94.
3038:
3032:
3031:
3021:
2989:
2983:
2982:
2972:
2948:
2942:
2941:
2931:
2907:
2901:
2900:
2890:
2880:
2848:
2842:
2841:
2831:
2807:
2798:
2797:
2787:
2763:
2757:
2756:
2746:
2723:Landwehrmeyer BG
2717:
2711:
2710:
2682:
2676:
2675:
2665:
2655:
2631:
2625:
2624:
2614:
2590:
2584:
2583:
2547:
2541:
2540:
2522:
2498:
2492:
2491:
2462:
2456:
2455:
2419:
2413:
2412:
2376:
2370:
2369:
2333:
2327:
2326:
2324:
2323:
2308:
2302:
2301:
2283:
2259:
2250:
2249:
2247:
2246:
2198:
2192:
2191:
2181:
2171:
2139:
2133:
2132:
2130:
2129:
2103:
2077:
2068:
2059:
2058:
2047:
2041:
2040:
2029:
2023:
2013:
2002:
1992:
1923:Full penetrance
1873:
1846:oxidative stress
1824:Huntingtin is a
1461:
1460:
1380:axonal transport
1297:genetic disorder
1273:is the cause of
1225:
1224:
1196:
1189:
1172:
1160:
1159:
1151:
1139:
1138:
1135:RefSeq (protein)
1125:
1113:
1112:
1104:
1088:
1087:
1064:
1063:
1045:
1044:
1019:
1018:
1000:
999:
974:
973:
955:
954:
924:
923:
656:dynactin binding
651:profilin binding
634:
633:
620:
611:
604:
603:
589:
537:Ileal epithelium
529:
527:Top expressed in
522:
521:
499:ventricular zone
479:body of pancreas
467:
465:Top expressed in
460:
459:
439:
438:
422:
421:
412:
399:
388:
373:
366:
360:
349:
337:
321:
320:
311:
298:
287:
272:
265:
259:
248:
234:
218:
217:
212:
163:
156:
133:
64:
63:
58:
37:
36:
31:
19:
18:
4309:
4308:
4304:
4303:
4302:
4300:
4299:
4298:
4274:
4273:
4235:Wayback Machine
4210:
4205:
4019:Nature Genetics
3762:(11): 1637–40.
3749:
3747:Further reading
3744:
3721:10.1038/431747a
3707:(7010): 747–8.
3697:
3693:
3646:
3642:
3597:
3593:
3548:
3544:
3507:
3500:
3461:
3454:
3409:
3405:
3368:
3364:
3317:
3313:
3290:(23): 2815–28.
3275:
3271:
3216:
3212:
3175:
3166:
3129:Current Biology
3121:
3117:
3080:
3076:
3039:
3035:
2990:
2986:
2949:
2945:
2922:(21): 2547–58.
2908:
2904:
2849:
2845:
2808:
2801:
2764:
2760:
2718:
2714:
2683:
2679:
2646:(5): e1002142.
2632:
2628:
2605:(17): 1807–17.
2591:
2587:
2548:
2544:
2499:
2495:
2474:(Pt 5): 941–8.
2463:
2459:
2430:(5529): 493–8.
2420:
2416:
2393:10.1038/nrn1806
2377:
2373:
2334:
2330:
2321:
2319:
2310:
2309:
2305:
2260:
2253:
2244:
2242:
2199:
2195:
2140:
2136:
2127:
2125:
2075:
2069:
2062:
2049:
2048:
2044:
2031:
2030:
2026:
2014:
2005:
1993:
1984:
1980:
1882:Disease status
1879:Classification
1868:
1862:
1822:
1817:
1436:
1376:
1371:
1332:
1234:View/Edit Mouse
1229:View/Edit Human
1192:
1185:
1182:Location (UCSC)
1168:
1147:
1121:
1100:
1096:
1009:ENSG00000197386
902:
801:
722:Golgi apparatus
705:
676:protein binding
616:
585:
576:
571:
567:
563:
561:mammillary body
559:
555:
551:
547:
543:
539:
525:
514:
511:skin of abdomen
509:
505:
503:muscle of thigh
501:
497:
495:Achilles tendon
493:
489:
485:
481:
477:
463:
407:
394:
386:
376:
375:
374:
367:
347:
324:Gene location (
306:
293:
285:
275:
274:
273:
266:
244:
221:Gene location (
210:HTT - orthologs
172:
159:
152:
73:
51:
17:
12:
11:
5:
4307:
4297:
4296:
4291:
4289:Human proteins
4286:
4272:
4271:
4266:
4261:
4253:
4244:
4238:
4221:
4209:
4208:External links
4206:
4204:
4203:
4175:(3): 299–302.
4160:
4131:
4088:
4056:Science's STKE
4051:
4014:
3977:
3934:
3906:(10): 958–63.
3891:
3854:
3825:
3788:
3750:
3748:
3745:
3743:
3742:
3691:
3640:
3591:
3542:
3498:
3452:
3403:
3382:(2): 395–406.
3362:
3311:
3269:
3210:
3189:(9): 1463–74.
3164:
3135:(24): 1603–6.
3115:
3074:
3033:
3004:(5): 1277–87.
2984:
2957:Molecular Cell
2943:
2902:
2863:(12): 6763–8.
2843:
2822:(13): 8121–4.
2799:
2758:
2731:Molecular Cell
2712:
2677:
2626:
2585:
2542:
2513:(5): 1075–81.
2493:
2457:
2414:
2387:(12): 919–30.
2371:
2328:
2303:
2251:
2193:
2154:(7): e103004.
2134:
2060:
2042:
2024:
2003:
1981:
1979:
1976:
1960:frontal cortex
1928:
1927:
1924:
1921:
1917:
1916:
1913:
1910:
1906:
1905:
1902:
1899:
1895:
1894:
1891:
1888:
1884:
1883:
1880:
1877:
1864:Main article:
1861:
1858:
1844:and increased
1821:
1818:
1816:
1815:
1809:
1803:
1797:
1791:
1785:
1779:
1772:
1762:
1761:
1758:
1755:
1749:
1748:
1745:
1742:
1736:
1735:
1732:
1729:
1723:
1722:
1719:
1716:
1709:
1708:
1705:
1702:
1695:
1694:
1691:
1688:
1682:
1681:
1678:
1675:
1669:
1668:
1665:
1662:
1656:
1655:
1652:
1649:
1643:
1642:
1639:
1636:
1629:
1628:
1625:
1622:
1616:
1615:
1612:
1609:
1591:
1590:
1587:
1584:
1578:
1577:
1574:
1571:
1565:
1564:
1561:
1558:
1552:
1551:
1548:
1545:
1539:
1538:
1535:
1532:
1526:
1525:
1522:
1519:
1513:
1512:
1509:
1506:
1500:
1499:
1496:
1493:
1486:
1485:
1482:
1479:
1472:
1471:
1468:
1465:
1435:
1432:
1375:
1372:
1370:
1367:
1331:
1328:
1241:
1240:
1237:
1236:
1231:
1221:
1220:
1214:
1213:
1210:
1209:
1207:
1205:
1198:
1197:
1190:
1183:
1179:
1178:
1175:
1174:
1164:
1163:
1157:
1154:
1153:
1143:
1142:
1136:
1132:
1131:
1128:
1127:
1117:
1116:
1110:
1107:
1106:
1092:
1091:
1085:
1081:
1080:
1077:
1076:
1068:
1067:
1061:
1058:
1057:
1049:
1048:
1042:
1036:
1035:
1032:
1031:
1023:
1022:
1016:
1013:
1012:
1004:
1003:
997:
991:
990:
987:
986:
978:
977:
971:
968:
967:
959:
958:
952:
946:
945:
940:
935:
931:
930:
920:
919:
916:
915:
904:
903:
901:
900:
895:
890:
885:
880:
875:
870:
865:
860:
858:vocal learning
855:
850:
845:
840:
835:
830:
825:
820:
815:
809:
807:
803:
802:
800:
799:
794:
789:
784:
779:
777:inclusion body
774:
769:
764:
759:
754:
749:
744:
739:
734:
729:
724:
719:
713:
711:
707:
706:
704:
703:
698:
696:kinase binding
693:
688:
683:
678:
673:
668:
663:
658:
653:
647:
645:
641:
640:
630:
629:
626:
625:
622:
621:
613:
612:
601:
595:
594:
591:
590:
582:
581:
578:
577:
575:
574:
570:
566:
562:
558:
554:
550:
546:
542:
538:
534:
531:
530:
519:
516:
515:
513:
512:
508:
504:
500:
496:
492:
488:
484:
480:
476:
472:
469:
468:
456:
455:
447:
436:
430:
429:
426:RNA expression
418:
417:
414:
413:
405:
401:
400:
392:
389:
384:
378:
377:
368:
361:
355:
351:
350:
345:
339:
338:
330:
329:
317:
316:
313:
312:
304:
300:
299:
291:
288:
283:
277:
276:
267:
260:
254:
250:
249:
242:
236:
235:
227:
226:
214:
213:
170:
166:
165:
157:
149:
148:
144:
143:
140:
139:
136:
135:
69:
68:
60:
59:
48:
42:
41:
33:
32:
24:
23:
15:
9:
6:
4:
3:
2:
4306:
4295:
4292:
4290:
4287:
4285:
4282:
4281:
4279:
4270:
4267:
4265:
4262:
4260:
4257:
4254:
4252:
4248:
4245:
4242:
4239:
4236:
4232:
4229:
4225:
4222:
4219:
4215:
4212:
4211:
4200:
4196:
4191:
4186:
4182:
4178:
4174:
4170:
4166:
4161:
4157:
4153:
4149:
4145:
4142:(6): 338–42.
4141:
4137:
4132:
4128:
4124:
4119:
4114:
4110:
4106:
4103:(2): 255–62.
4102:
4098:
4094:
4089:
4085:
4081:
4077:
4073:
4069:
4065:
4062:(207): pe48.
4061:
4057:
4052:
4048:
4044:
4040:
4036:
4032:
4028:
4025:(2): 99–103.
4024:
4020:
4015:
4011:
4007:
4003:
3999:
3995:
3991:
3988:(5): 467–75.
3987:
3983:
3978:
3974:
3970:
3965:
3960:
3956:
3952:
3948:
3944:
3940:
3935:
3931:
3927:
3922:
3917:
3913:
3909:
3905:
3901:
3897:
3892:
3888:
3884:
3880:
3876:
3872:
3868:
3864:
3860:
3855:
3851:
3847:
3843:
3839:
3835:
3831:
3826:
3822:
3818:
3814:
3810:
3806:
3802:
3798:
3794:
3789:
3785:
3781:
3777:
3773:
3769:
3765:
3761:
3757:
3752:
3751:
3738:
3734:
3730:
3726:
3722:
3718:
3714:
3710:
3706:
3702:
3695:
3687:
3683:
3678:
3673:
3668:
3663:
3659:
3655:
3654:Q Rev Biophys
3651:
3644:
3636:
3632:
3627:
3622:
3618:
3614:
3610:
3606:
3602:
3595:
3587:
3583:
3579:
3575:
3570:
3565:
3562:(3): 537–48.
3561:
3557:
3553:
3546:
3538:
3534:
3529:
3524:
3520:
3516:
3512:
3505:
3503:
3494:
3490:
3486:
3482:
3478:
3474:
3470:
3466:
3459:
3457:
3448:
3444:
3439:
3434:
3430:
3426:
3422:
3418:
3414:
3407:
3399:
3395:
3390:
3385:
3381:
3377:
3373:
3366:
3358:
3354:
3349:
3344:
3339:
3334:
3330:
3326:
3322:
3315:
3307:
3303:
3298:
3293:
3289:
3285:
3281:
3273:
3265:
3261:
3256:
3251:
3246:
3241:
3237:
3233:
3230:(5): 2712–7.
3229:
3225:
3221:
3214:
3206:
3202:
3197:
3192:
3188:
3184:
3180:
3173:
3171:
3169:
3160:
3156:
3152:
3148:
3143:
3138:
3134:
3130:
3126:
3119:
3111:
3107:
3102:
3097:
3093:
3089:
3085:
3078:
3070:
3066:
3061:
3056:
3052:
3048:
3044:
3037:
3029:
3025:
3020:
3015:
3011:
3007:
3003:
2999:
2995:
2988:
2980:
2976:
2971:
2966:
2963:(4): 427–36.
2962:
2958:
2954:
2947:
2939:
2935:
2930:
2925:
2921:
2917:
2913:
2906:
2898:
2894:
2889:
2884:
2879:
2874:
2870:
2866:
2862:
2858:
2854:
2847:
2839:
2835:
2830:
2825:
2821:
2817:
2813:
2806:
2804:
2795:
2791:
2786:
2781:
2778:(3): 487–95.
2777:
2773:
2769:
2762:
2754:
2750:
2745:
2740:
2737:(6): 853–65.
2736:
2732:
2728:
2724:
2716:
2708:
2704:
2700:
2696:
2693:(8): 425–33.
2692:
2688:
2681:
2673:
2669:
2664:
2659:
2654:
2649:
2645:
2641:
2637:
2630:
2622:
2618:
2613:
2608:
2604:
2600:
2596:
2589:
2581:
2577:
2573:
2569:
2565:
2561:
2557:
2553:
2546:
2538:
2534:
2530:
2526:
2521:
2516:
2512:
2508:
2504:
2497:
2489:
2485:
2481:
2477:
2473:
2469:
2461:
2453:
2449:
2445:
2441:
2437:
2433:
2429:
2425:
2418:
2410:
2406:
2402:
2398:
2394:
2390:
2386:
2382:
2375:
2367:
2363:
2359:
2355:
2351:
2347:
2343:
2339:
2332:
2317:
2313:
2307:
2299:
2295:
2291:
2287:
2282:
2277:
2274:(5): 811–23.
2273:
2269:
2265:
2258:
2256:
2240:
2236:
2232:
2228:
2224:
2220:
2216:
2212:
2208:
2204:
2197:
2189:
2185:
2180:
2175:
2170:
2165:
2161:
2157:
2153:
2149:
2145:
2138:
2123:
2119:
2115:
2111:
2107:
2102:
2101:2027.42/30901
2097:
2093:
2089:
2086:(6): 971–83.
2085:
2081:
2074:
2067:
2065:
2056:
2052:
2046:
2038:
2034:
2028:
2021:
2017:
2012:
2010:
2008:
2000:
1996:
1991:
1989:
1987:
1982:
1975:
1971:
1969:
1963:
1961:
1957:
1951:
1949:
1944:
1940:
1936:
1925:
1922:
1919:
1918:
1915:+/- Affected
1914:
1911:
1908:
1907:
1903:
1901:Intermediate
1900:
1897:
1896:
1892:
1889:
1886:
1885:
1881:
1878:
1876:Repeat count
1875:
1874:
1867:
1857:
1855:
1851:
1847:
1843:
1839:
1835:
1831:
1827:
1813:
1810:
1807:
1804:
1801:
1798:
1795:
1792:
1789:
1786:
1783:
1780:
1777:
1774:
1773:
1771:
1769:
1759:
1756:
1754:
1751:
1750:
1746:
1743:
1741:
1738:
1737:
1733:
1730:
1728:
1725:
1724:
1720:
1717:
1714:
1711:
1710:
1706:
1703:
1700:
1697:
1696:
1692:
1689:
1687:
1684:
1683:
1679:
1676:
1674:
1671:
1670:
1666:
1663:
1661:
1658:
1657:
1653:
1650:
1648:
1645:
1644:
1640:
1637:
1634:
1631:
1630:
1626:
1623:
1621:
1618:
1617:
1613:
1610:
1607:
1603:
1599:
1598:
1593:
1592:
1588:
1585:
1583:
1580:
1579:
1575:
1572:
1570:
1567:
1566:
1562:
1559:
1557:
1554:
1553:
1549:
1546:
1544:
1541:
1540:
1536:
1533:
1531:
1528:
1527:
1523:
1520:
1518:
1515:
1514:
1510:
1507:
1505:
1502:
1501:
1497:
1494:
1491:
1488:
1487:
1483:
1480:
1478:
1474:
1473:
1469:
1466:
1463:
1462:
1459:
1457:
1453:
1449:
1445:
1441:
1431:
1429:
1425:
1421:
1417:
1413:
1409:
1405:
1401:
1397:
1393:
1389:
1385:
1381:
1366:
1364:
1360:
1356:
1351:
1349:
1345:
1341:
1337:
1327:
1325:
1321:
1317:
1313:
1309:
1304:
1302:
1298:
1295:
1291:
1287:
1283:
1282:polymorphisms
1278:
1276:
1272:
1269:
1265:
1261:
1258:
1254:
1250:
1247:
1235:
1230:
1226:
1222:
1219:
1215:
1208:
1206:
1203:
1199:
1195:
1191:
1188:
1184:
1180:
1173:
1171:
1165:
1161:
1158:
1152:
1150:
1144:
1140:
1137:
1133:
1126:
1124:
1118:
1114:
1111:
1105:
1103:
1099:
1093:
1089:
1086:
1084:RefSeq (mRNA)
1082:
1075:
1074:
1069:
1065:
1062:
1056:
1055:
1050:
1046:
1043:
1041:
1037:
1030:
1029:
1024:
1020:
1017:
1011:
1010:
1005:
1001:
998:
996:
992:
985:
984:
979:
975:
972:
966:
965:
960:
956:
953:
951:
947:
944:
941:
939:
936:
932:
929:
925:
921:
914:
910:
905:
899:
896:
894:
891:
889:
886:
884:
881:
879:
876:
874:
871:
869:
866:
864:
861:
859:
856:
854:
851:
849:
846:
844:
841:
839:
836:
834:
831:
829:
826:
824:
821:
819:
816:
814:
811:
810:
808:
805:
804:
798:
795:
793:
790:
788:
785:
783:
780:
778:
775:
773:
770:
768:
765:
763:
760:
758:
755:
753:
750:
748:
745:
743:
740:
738:
735:
733:
732:autophagosome
730:
728:
725:
723:
720:
718:
717:late endosome
715:
714:
712:
709:
708:
702:
699:
697:
694:
692:
689:
687:
684:
682:
679:
677:
674:
672:
669:
667:
664:
662:
659:
657:
654:
652:
649:
648:
646:
643:
642:
639:
638:Gene ontology
635:
631:
619:
614:
610:
605:
602:
600:
596:
588:
583:
572:
568:
564:
560:
556:
552:
548:
544:
540:
536:
535:
532:
528:
523:
520:
510:
506:
502:
498:
494:
490:
486:
482:
478:
474:
473:
470:
466:
461:
458:
457:
454:
452:
448:
446:
445:
441:
440:
437:
435:
431:
427:
423:
419:
411:
406:
402:
398:
393:
383:
379:
372:
365:
359:
352:
344:
340:
336:
331:
327:
322:
318:
310:
305:
301:
297:
292:
282:
278:
271:
264:
258:
251:
247:
241:
237:
233:
228:
224:
219:
215:
211:
207:
203:
199:
195:
191:
187:
183:
179:
175:
167:
162:
155:
150:
145:
134:
132:
128:
124:
120:
116:
112:
108:
104:
100:
96:
92:
88:
84:
80:
76:
70:
65:
62:
61:
57:
54:
47:
43:
38:
34:
30:
25:
20:
4172:
4168:
4139:
4135:
4100:
4096:
4059:
4055:
4022:
4018:
3985:
3981:
3946:
3942:
3903:
3900:EMBO Reports
3899:
3862:
3858:
3833:
3829:
3796:
3792:
3759:
3755:
3704:
3700:
3694:
3657:
3653:
3643:
3608:
3604:
3594:
3559:
3555:
3545:
3521:(2): 301–9.
3518:
3514:
3468:
3464:
3420:
3416:
3406:
3379:
3375:
3365:
3328:
3324:
3314:
3287:
3283:
3272:
3227:
3223:
3213:
3186:
3182:
3132:
3128:
3118:
3091:
3087:
3077:
3050:
3046:
3036:
3001:
2997:
2987:
2960:
2956:
2946:
2919:
2915:
2905:
2860:
2856:
2846:
2819:
2815:
2775:
2771:
2761:
2734:
2730:
2715:
2690:
2686:
2680:
2643:
2640:PLOS Biology
2639:
2629:
2602:
2598:
2588:
2558:(1): 34–40.
2555:
2551:
2545:
2510:
2506:
2496:
2471:
2467:
2460:
2427:
2423:
2417:
2384:
2380:
2374:
2341:
2337:
2331:
2320:. Retrieved
2306:
2271:
2267:
2243:. Retrieved
2213:(2): 392–4.
2210:
2206:
2196:
2151:
2147:
2137:
2126:. Retrieved
2083:
2079:
2054:
2045:
2036:
2027:
1972:
1964:
1952:
1931:
1823:
1765:
1734:Endocytosis
1605:
1601:
1595:
1484:Endocytosis
1475:α-adaptin C/
1437:
1434:Interactions
1412:mitochondria
1408:microtubules
1377:
1359:chromosome 4
1354:
1352:
1339:
1333:
1318:, a form of
1305:
1300:
1279:
1270:
1263:
1256:
1248:
1245:
1244:
1167:
1146:
1120:
1102:NM_001388492
1095:
1071:
1052:
1026:
1007:
981:
962:
942:
937:
449:
442:
169:External IDs
72:
3331:: 2525967.
2344:: 122–130.
1968:juvenile HD
1904:Unaffected
1893:Unaffected
1856:pathology.
1446:(HAP1) and
1420:endocytosis
1312:nerve cells
727:nucleoplasm
666:p53 binding
573:Paneth cell
507:skin of leg
487:granulocyte
475:sural nerve
408:35,069,878
395:34,919,084
147:Identifiers
4278:Categories
4256:EntrezGene
3423:: 102–10.
2322:2016-02-18
2312:"HTT gene"
2245:2009-05-02
2128:2019-08-29
2022:, May 2017
2001:, May 2017
1978:References
1948:penetrance
1718:Not known
1664:Not known
1611:Not known
1573:Not known
1560:Not known
1246:Huntingtin
453:(ortholog)
307:3,243,957
294:3,041,363
190:HomoloGene
2366:218596089
2207:Neurology
1943:glutamine
1926:Affected
1715:(RasGAP)
1701:(PSD-95)
1470:Function
1363:base pair
1344:glutamine
1316:apoptosis
1290:wild-type
1286:glutamine
1170:NP_034544
1149:NP_002102
1123:NM_010414
1098:NM_002111
928:Orthologs
772:cytoplasm
742:centriole
553:CA3 field
198:GeneCards
4264:GeneCard
4249:(OMIM):
4231:Archived
4199:12569151
4156:15261377
4127:15717026
4084:35318234
4076:14600292
4047:25472459
4010:19491573
4002:15359012
3973:10434301
3930:15459747
3879:15480847
3850:12531930
3836:: 34–7.
3813:12747895
3784:30904037
3776:17534945
3729:15483586
3686:26350150
3635:15483602
3493:46151626
3485:17240289
3447:23602907
3398:28017939
3357:28785371
3306:12393793
3264:12604778
3159:12836037
3151:11137014
3110:10801775
3028:11839795
2938:12354780
2897:10823891
2753:15383276
2707:12932731
2672:25942483
2621:11532990
2580:36726422
2537:18071283
2488:11870213
2452:20703272
2444:11408619
2409:10119487
2401:16288298
2358:32408142
2316:Archived
2298:16835259
2239:Archived
2235:33091017
2188:25054562
2148:PLOS ONE
2122:Archived
2018:–
1997:–
1956:striatum
1768:interact
1614:Unknown
1440:proteins
1416:clathrin
1404:vesicles
1374:Function
1218:Wikidata
907:Sources:
752:dendrite
4241:The HDA
4097:NeuroRx
4039:1302016
3964:1692601
3921:1299150
3887:2961376
3821:7587406
3709:Bibcode
3677:4785097
3613:Bibcode
3578:9267033
3537:9063751
3438:3722255
3348:5529664
3232:Bibcode
3205:9700202
3069:8702625
2979:9809064
2865:Bibcode
2838:9079622
2794:9147654
2663:4420272
2572:9682010
2529:7748555
2424:Science
2290:7774020
2227:9932964
2179:4108396
2156:Bibcode
2110:8458085
2020:Ensembl
1999:Ensembl
1920:>40
1890:Normal
1887:<26
1828:in the
1812:ZDHHC17
1794:PRPF40A
1782:MAP3K10
1686:PACSIN1
1635:/HYP-H
1594:HAP40 (
1498:Kinase
1369:Protein
1338:of the
1268:Mutated
1253:protein
1251:is the
1040:UniProt
995:Ensembl
934:Species
913:QuickGO
767:nucleus
757:cytosol
428:pattern
154:Aliases
4251:143100
4220:(MeSH)
4197:
4190:151871
4187:
4154:
4125:
4118:534940
4115:
4082:
4074:
4045:
4037:
4008:
4000:
3971:
3961:
3928:
3918:
3885:
3877:
3848:
3819:
3811:
3793:Lancet
3782:
3774:
3737:285829
3735:
3727:
3701:Nature
3684:
3674:
3660:: e2.
3633:
3605:Nature
3586:549691
3584:
3576:
3535:
3491:
3483:
3465:Lancet
3445:
3435:
3396:
3355:
3345:
3304:
3262:
3255:151406
3252:
3203:
3157:
3149:
3108:
3067:
3026:
3019:134707
3016:
2977:
2936:
2895:
2885:
2836:
2792:
2751:
2705:
2670:
2660:
2619:
2578:
2570:
2535:
2527:
2507:Neuron
2486:
2450:
2442:
2407:
2399:
2364:
2356:
2296:
2288:
2233:
2225:
2186:
2176:
2118:802885
2116:
2108:
1909:36–40
1898:27–35
1806:TRIP10
1770:with:
1727:SH3GL3
1428:RAB11A
1398:, and
1204:search
1202:PubMed
1073:P42859
1054:P42858
950:Entrez
599:BioGPS
286:4p16.3
178:613004
4228:HOPES
4080:S2CID
4043:S2CID
4006:S2CID
3883:S2CID
3817:S2CID
3780:S2CID
3733:S2CID
3582:S2CID
3489:S2CID
3155:S2CID
2888:18731
2576:S2CID
2533:S2CID
2448:S2CID
2405:S2CID
2362:S2CID
2294:S2CID
2231:S2CID
2114:S2CID
2076:(PDF)
1800:SETD2
1740:SIN3A
1713:RASA1
1660:NF-κB
1647:N-CoR
1633:HIP14
1517:CA150
1492:/PKB
1324:birth
1249:(Htt)
983:15194
943:Mouse
938:Human
909:Amigo
451:Mouse
444:Human
391:Start
326:Mouse
290:Start
223:Human
186:96067
4269:iHOP
4259:3064
4195:PMID
4152:PMID
4123:PMID
4072:PMID
4060:2003
4035:PMID
3998:PMID
3969:PMID
3926:PMID
3875:PMID
3846:PMID
3809:PMID
3772:PMID
3725:PMID
3682:PMID
3631:PMID
3574:PMID
3556:Cell
3533:PMID
3481:PMID
3443:PMID
3394:PMID
3353:PMID
3329:2017
3302:PMID
3260:PMID
3201:PMID
3147:PMID
3106:PMID
3065:PMID
3024:PMID
2975:PMID
2934:PMID
2893:PMID
2834:PMID
2790:PMID
2749:PMID
2703:PMID
2668:PMID
2617:PMID
2568:PMID
2525:PMID
2484:PMID
2440:PMID
2397:PMID
2354:PMID
2286:PMID
2268:Cell
2223:PMID
2184:PMID
2106:PMID
2080:Cell
1788:OPTN
1776:HIP2
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