• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens huntingtin (HTT), mRNA.


RefSeq Accession Definition Services Price Order
NM_002111 Homo sapiens huntingtin (HTT), mRNA. ORF Sequence Quote
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_002111.6, 90903230
Length 13481 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens huntingtin (HTT), mRNA.
Product huntingtin
Comment

Summary: Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008].


Sequence Note: This RefSeq was created from transcript sequence data and has been edited to agree with the reference genome except in the CAG repeat region. The reference genome has a repeat region encoding 21 glutamines while the RefSeq has a repeat region (nt 197-265) encoding 23. Neither repeat region is associated with Huntington's Disease.

RefSeq NP_002102.4
CDS 146..9580
Misc Feature(1)170..172
Misc Feature(2)170..172
Misc Feature(3)197..265
Misc Feature(4)677..679
Misc Feature(5)761..874
Misc Feature(6)851..853
Misc Feature(7)887..1000
Misc Feature(8)1097..1231
Misc Feature(9)1178..1180
Misc Feature(10)1382..1384
Misc Feature(11)1406..1408
Misc Feature(12)1436..1438
Misc Feature(13)1445..1447
Misc Feature(14)1445..1447
Misc Feature(15)1475..1477
Misc Feature(16)1682..1687
Misc Feature(17)1682..1684
Misc Feature(18)1733..1738
Misc Feature(19)1799..1804
Misc Feature(20)1799..1801
Misc Feature(21)1901..1903
Misc Feature(22)1910..1915
Misc Feature(23)2555..2668
Misc Feature(24)2855..2971
Misc Feature(25)3686..3688
Misc Feature(26)3686..3688
Misc Feature(27)3734..3736
Misc Feature(28)3746..3748
Misc Feature(29)3746..3748
Misc Feature(30)4682..4810
Misc Feature(31)5759..5761
Misc Feature(32)5771..5773
Misc Feature(33)6371..6373
Misc Feature(34)7334..7363
Misc Feature(35)8102..8104
Exon (1)1..414
Gene:HTT
Gene Synonym:HD; IT15
Exon (2)415..498
Gene:HTT
Gene Synonym:HD; IT15
Exon (3)499..619
Gene:HTT
Gene Synonym:HD; IT15
Exon (4)620..679
Gene:HTT
Gene Synonym:HD; IT15
Exon (5)680..759
Gene:HTT
Gene Synonym:HD; IT15
Exon (6)760..898
Gene:HTT
Gene Synonym:HD; IT15
Exon (7)899..1040
Gene:HTT
Gene Synonym:HD; IT15
Exon (8)1041..1219
Gene:HTT
Gene Synonym:HD; IT15
Exon (9)1220..1424
Gene:HTT
Gene Synonym:HD; IT15
Exon (10)1425..1472
Gene:HTT
Gene Synonym:HD; IT15
Exon (11)1473..1553
Gene:HTT
Gene Synonym:HD; IT15
Exon (12)1554..1894
Gene:HTT
Gene Synonym:HD; IT15
Exon (13)1895..2018
Gene:HTT
Gene Synonym:HD; IT15
Exon (14)2019..2137
Gene:HTT
Gene Synonym:HD; IT15
Exon (15)2138..2249
Gene:HTT
Gene Synonym:HD; IT15
Exon (16)2250..2387
Gene:HTT
Gene Synonym:HD; IT15
Exon (17)2388..2546
Gene:HTT
Gene Synonym:HD; IT15
Exon (18)2547..2644
Gene:HTT
Gene Synonym:HD; IT15
Exon (19)2645..2784
Gene:HTT
Gene Synonym:HD; IT15
Exon (20)2785..2848
Gene:HTT
Gene Synonym:HD; IT15
Exon (21)2849..2949
Gene:HTT
Gene Synonym:HD; IT15
Exon (22)2950..3096
Gene:HTT
Gene Synonym:HD; IT15
Exon (23)3097..3217
Gene:HTT
Gene Synonym:HD; IT15
Exon (24)3218..3294
Gene:HTT
Gene Synonym:HD; IT15
Exon (25)3295..3446
Gene:HTT
Gene Synonym:HD; IT15
Exon (26)3447..3649
Gene:HTT
Gene Synonym:HD; IT15
Exon (27)3650..3776
Gene:HTT
Gene Synonym:HD; IT15
Exon (28)3777..3904
Gene:HTT
Gene Synonym:HD; IT15
Exon (29)3905..4015
Gene:HTT
Gene Synonym:HD; IT15
Exon (30)4016..4093
Gene:HTT
Gene Synonym:HD; IT15
Exon (31)4094..4317
Gene:HTT
Gene Synonym:HD; IT15
Exon (32)4318..4396
Gene:HTT
Gene Synonym:HD; IT15
Exon (33)4397..4558
Gene:HTT
Gene Synonym:HD; IT15
Exon (34)4559..4614
Gene:HTT
Gene Synonym:HD; IT15
Exon (35)4615..4763
Gene:HTT
Gene Synonym:HD; IT15
Exon (36)4764..4900
Gene:HTT
Gene Synonym:HD; IT15
Exon (37)4901..5017
Gene:HTT
Gene Synonym:HD; IT15
Exon (38)5018..5140
Gene:HTT
Gene Synonym:HD; IT15
Exon (39)5141..5376
Gene:HTT
Gene Synonym:HD; IT15
Exon (40)5377..5519
Gene:HTT
Gene Synonym:HD; IT15
Exon (41)5520..5727
Gene:HTT
Gene Synonym:HD; IT15
Exon (42)5728..5869
Gene:HTT
Gene Synonym:HD; IT15
Exon (43)5870..6049
Gene:HTT
Gene Synonym:HD; IT15
Exon (44)6050..6226
Gene:HTT
Gene Synonym:HD; IT15
Exon (45)6227..6303
Gene:HTT
Gene Synonym:HD; IT15
Exon (46)6304..6442
Gene:HTT
Gene Synonym:HD; IT15
Exon (47)6443..6565
Gene:HTT
Gene Synonym:HD; IT15
Exon (48)6566..6779
Gene:HTT
Gene Synonym:HD; IT15
Exon (49)6780..6925
Gene:HTT
Gene Synonym:HD; IT15
Exon (50)6926..7103
Gene:HTT
Gene Synonym:HD; IT15
Exon (51)7104..7205
Gene:HTT
Gene Synonym:HD; IT15
Exon (52)7206..7393
Gene:HTT
Gene Synonym:HD; IT15
Exon (53)7394..7520
Gene:HTT
Gene Synonym:HD; IT15
Exon (54)7521..7621
Gene:HTT
Gene Synonym:HD; IT15
Exon (55)7622..7776
Gene:HTT
Gene Synonym:HD; IT15
Exon (56)7777..7916
Gene:HTT
Gene Synonym:HD; IT15
Exon (57)7917..7999
Gene:HTT
Gene Synonym:HD; IT15
Exon (58)8000..8130
Gene:HTT
Gene Synonym:HD; IT15
Exon (59)8131..8260
Gene:HTT
Gene Synonym:HD; IT15
Exon (60)8261..8416
Gene:HTT
Gene Synonym:HD; IT15
Exon (61)8417..8607
Gene:HTT
Gene Synonym:HD; IT15
Exon (62)8608..8722
Gene:HTT
Gene Synonym:HD; IT15
Exon (63)8723..8936
Gene:HTT
Gene Synonym:HD; IT15
Exon (64)8937..9042
Gene:HTT
Gene Synonym:HD; IT15
Exon (65)9043..9205
Gene:HTT
Gene Synonym:HD; IT15
Exon (66)9206..9366
Gene:HTT
Gene Synonym:HD; IT15
Exon (67)9367..13481
Gene:HTT
Gene Synonym:HD; IT15
Translation MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQA QPLLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNS PEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNG APRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMAS FGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGL LVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVY ELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSG SIVELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGEL AASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVS AVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQP QDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGD QENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSC VGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICS ILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLC SSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYT GLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQS SVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTT RALTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAW FPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMV EQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPL SPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQN STEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKT LFGTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNM VQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTT TTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIF FFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKA DAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPML AKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILA ILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEE TFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAA ATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTP KRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTW LIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLE GIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNR IQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKD WYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISG GQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSL PTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAG LDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKA ISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIIS LARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGW TSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPV AGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWD PVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDE EEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILIS EVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKA VAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIA HCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCA LRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRT SDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVI GEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSC FFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEV VAAPGSPYHRLLTCLRNVHKVTTC
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Position Chain Variation Link
43+c, tdbSNP:146151652
62+a, gdbSNP:201071630
173..174+, ccgdbSNP:10701858
203..204+, cagdbSNP:10618869
204..206+, agcdbSNP:72457839
205..207+, tgcdbSNP:71180116
256..271+cggcggctgttgc, tggcggctgtdbSNP:66568705
256+a, gdbSNP:9993357
261+a, cdbSNP:61792465
262+c, tdbSNP:473915
263..264+, ccgdbSNP:72367998
264+a, cdbSNP:61792466
271+a, gdbSNP:76533208
292+g, tdbSNP:9993367
294..295+, ctcdbSNP:35526050
304+a, cdbSNP:603765
360+g, tdbSNP:375917
463+dbSNP:
463+g, tdbSNP:144207123
469+a, cdbSNP:140019482
536+dbSNP:
536+a, gdbSNP:77742164
543+, tdbSNP:35934935
653+dbSNP:
653+c, tdbSNP:190411190
655+c, tdbSNP:200331534
736+dbSNP:
736+c, tdbSNP:184820567
795+dbSNP:
795+a, gdbSNP:200499945
797+a, gdbSNP:181975967
843+c, tdbSNP:186355914
864+c, tdbSNP:199585002
869+g, tdbSNP:201015782
878+g, tdbSNP:75790599
918+dbSNP:
918+a, gdbSNP:1936033
1036+c, gdbSNP:1936032
1049+dbSNP:
1049+a, gdbSNP:113106141
1057+a, cdbSNP:199509618
1120+c, tdbSNP:181961779
1234+dbSNP:
1234+c, gdbSNP:114476023
1339+c, tdbSNP:1065745
1373+a, cdbSNP:201948833
1389+g, tdbSNP:189018320
1422+c, tdbSNP:201724304
1586+dbSNP:
1586+c, gdbSNP:148032171
1625+c, tdbSNP:201739761
1626+a, gdbSNP:199954376
1642+a, cdbSNP:199926789
1672+a, gdbSNP:201861325
1685+a, cdbSNP:200974872
1687+c, tdbSNP:2301367
1766+a, gdbSNP:141760655
1803+a, gdbSNP:118005095
2025+dbSNP:
2025+a, gdbSNP:151106561
2075+a, gdbSNP:201938386
2221+dbSNP:
2221+c, tdbSNP:200648152
2238+c, tdbSNP:34389685
2253+dbSNP:
2253+g, tdbSNP:200178417
2327+c, tdbSNP:200639978
2332+a, gdbSNP:201616388
2376+c, tdbSNP:41264721
2505+dbSNP:
2505+c, tdbSNP:150027738
2510+a, gdbSNP:201760820
2565+dbSNP:
2565+c, tdbSNP:140979048
2655+dbSNP:
2655+c, tdbSNP:199977680
2668+c, tdbSNP:201808770
2733+a, gdbSNP:191504584
2817+dbSNP:
2817+a, cdbSNP:192933099
2828+c, tdbSNP:363075
2909+dbSNP:
2909+a, gdbSNP:80100842
2932+c, tdbSNP:188101620
3132+dbSNP:
3132+c, gdbSNP:190593027
3136+c, tdbSNP:76822705
3278+dbSNP:
3278+g, tdbSNP:200289562
3318+dbSNP:
3318+a, cdbSNP:78958847
3340+c, tdbSNP:202105394
3341+c, tdbSNP:35892913
3356+a, gdbSNP:41264725
3376+a, gdbSNP:144035877
3395+a, c, gdbSNP:1065746
3424+g, tdbSNP:1143646
3495+dbSNP:
3495+c, gdbSNP:1065747
3559+c, tdbSNP:200581635
3651+dbSNP:
3651+g, tdbSNP:2530588
3668+c, tdbSNP:3025843
3685+a, gdbSNP:145260975
3742+a, gdbSNP:181975938
3860+dbSNP:
3860+a, cdbSNP:188342053
3930+dbSNP:
3930+a, gdbSNP:34315806
3952+a, gdbSNP:363099
3954+a, gdbSNP:199529839
4042+dbSNP:
4042+g, tdbSNP:143701263
4061..4062+, gdbSNP:35325925
4181+dbSNP:
4181+c, tdbSNP:200657357
4304+g, tdbSNP:3025837
4314+c, tdbSNP:60135671
4348+dbSNP:
4348+a, cdbSNP:199658140
4386+a, gdbSNP:201053245
4418+dbSNP:
4418+c, tdbSNP:151199221
4471+a, gdbSNP:199875867
4499+a, gdbSNP:199843834
4610+dbSNP:
4610+c, tdbSNP:201715538
4789+dbSNP:
4789+c, gdbSNP:116293982
4815+a, gdbSNP:363129
5111+dbSNP:
5111+c, tdbSNP:201149918
5116+, tdbSNP:66725316
5122+c, tdbSNP:199866794
5154+dbSNP:
5154+a, cdbSNP:201729743
5193+c, tdbSNP:34781439
5273+c, tdbSNP:150003356
5310+g, tdbSNP:363125
5383+dbSNP:
5383+a, gdbSNP:201380622
5385+a, tdbSNP:61731805
5408+a, gdbSNP:140357956
5489+c, tdbSNP:182113414
5506+c, tdbSNP:200557996
5543+dbSNP:
5543+c, gdbSNP:201422844
5574..5575+, ggggdbSNP:149906530
5593+c, gdbSNP:201878423
5612+c, tdbSNP:201058625
5634..5635+, cdbSNP:34673947
5651..5652+a, gdbSNP:3025827
5695+, cdbSNP:68087956
5805+dbSNP:
5805+a, gdbSNP:200824667
5815+a, gdbSNP:199576985
5978+dbSNP:
5978+a, gdbSNP:201639415
5984+c, tdbSNP:202046922
6001+c, tdbSNP:201305332
6088+dbSNP:
6088+a, gdbSNP:201094471
6091+c, gdbSNP:200125263
6103+a, gdbSNP:199609576
6148+c, tdbSNP:200077637
6156+a, gdbSNP:201159417
6290+dbSNP:
6290+a, gdbSNP:181217572
6314+dbSNP:
6314+c, tdbSNP:199941479
6371+c, tdbSNP:201646519
6393+c, tdbSNP:201104173
6412+c, tdbSNP:200512822
6472+dbSNP:
6472+a, gdbSNP:181520026
6488+g, tdbSNP:1143648
6568+dbSNP:
6568+a, gdbSNP:55934900
6625+c, tdbSNP:140124504
6713+c, tdbSNP:112260178
6728+a, gdbSNP:200008242
6737+a, gdbSNP:202240444
6742+c, tdbSNP:362336
6775+a, gdbSNP:144090436
6948+dbSNP:
6948+a, gdbSNP:202236016
7076+c, tdbSNP:362331
7077+a, gdbSNP:200129223
7113+dbSNP:
7113+a, tdbSNP:200857448
7161+a, gdbSNP:186882443
7180+a, gdbSNP:191063722
7213+dbSNP:
7213+c, tdbSNP:3025818
7317+c, tdbSNP:200455891
7327+g, tdbSNP:2857790
7334+a, tdbSNP:202160733
7427+dbSNP:
7427+, gdbSNP:67001356
7483+a, tdbSNP:201702168
7512+a, gdbSNP:76653888
7513+a, gdbSNP:362321
7583+dbSNP:
7583+a, gdbSNP:3025816
7648+dbSNP:
7648+c, tdbSNP:190850312
7657+c, tdbSNP:182132217
7679+c, gdbSNP:3025814
7709+a, gdbSNP:200676186
7822+dbSNP:
7822+a, gdbSNP:138489139
7831+a, gdbSNP:76647298
7948+dbSNP:
7948+c, tdbSNP:362273
7993+c, tdbSNP:200527929
8001+dbSNP:
8001+g, tdbSNP:200196119
8029+c, tdbSNP:181007475
8039+a, cdbSNP:201944095
8069..8071+, gagdbSNP:149109767
8070..8072+, aggdbSNP:67580862
8071+a, gdbSNP:112304717
8089+c, gdbSNP:201422922
8127+c, tdbSNP:199968967
8166+dbSNP:
8166+c, tdbSNP:202216456
8167+c, tdbSNP:34600449
8205+c, tdbSNP:201229449
8269+dbSNP:
8269+c, gdbSNP:142891110
8308+c, tdbSNP:2276881
8326+a, cdbSNP:201467885
8353+a, gdbSNP:200586785
8395+, gdbSNP:68049234
8404+c, tdbSNP:2229985
8506+dbSNP:
8506+c, tdbSNP:200390355
8507+c, tdbSNP:362272
8563+a, c, gdbSNP:71608259
8671+dbSNP:
8671+a, tdbSNP:201724113
8696+c, tdbSNP:200296674
8697+c, tdbSNP:144891713
8807+dbSNP:
8807+c, tdbSNP:199535935
8844+c, tdbSNP:201699939
8984+dbSNP:
8984+a, cdbSNP:3025807
9056+dbSNP:
9056+c, tdbSNP:200392606
9058..9059+a, tdbSNP:3025806
9181+a, gdbSNP:141927489
9238+dbSNP:
9238+a, gdbSNP:201784554
9328+c, tdbSNP:2229987
9359+a, gdbSNP:201076881
9514+c, tdbSNP:200112468
9529+a, gdbSNP:362308
9639+a, gdbSNP:362307
9689+g, tdbSNP:148278311
9692+a, cdbSNP:73193321
9716+a, tdbSNP:59292988
9719+a, gdbSNP:142715334
9728+c, tdbSNP:116198062
9768+a, gdbSNP:73792378
9816+a, cdbSNP:73792379
9839+a, tdbSNP:189003905
9845+a, gdbSNP:112765468
9894+c, tdbSNP:362306
9942+c, gdbSNP:362268
9954+c, gdbSNP:362305
10017+a, gdbSNP:144996044
10038+c, gdbSNP:113512033
10066+g, tdbSNP:362304
10101+a, gdbSNP:362303
10151+a, gdbSNP:181402508
10176+c, tdbSNP:138835084
10212+c, tdbSNP:142037345
10270+a, gdbSNP:150858902
10297+g, tdbSNP:115429408
10312+c, tdbSNP:114344383
10332+a, gdbSNP:112877527
10352+a, cdbSNP:139353505
10452+c, tdbSNP:73792381
10587+a, cdbSNP:149616739
10710+a, gdbSNP:1557210
10714+a, gdbSNP:362302
10715+a, gdbSNP:113285146
10732+g, tdbSNP:144364475
10802+a, cdbSNP:3025805
11012+a, gdbSNP:362267
11060+a, gdbSNP:57969431
11084+a, gdbSNP:116419279
11091+c, gdbSNP:111820718
11188+a, gdbSNP:191419457
11196+a, cdbSNP:182741654
11231+a, cdbSNP:362301
11275..11276+, aaagggagcccctgctcdbSNP:6148278
11275+c, gdbSNP:78277727
11276..11277+, aaagggagcccctgctcdbSNP:35653811
11288..11289+, gctcaaagggagcccctdbSNP:58276479
11469..11470+, ttcdbSNP:5855773
11469+a, cdbSNP:201739406
11470..11471+, ttcdbSNP:33979070
11472..11473+, ttcdbSNP:3072133
11473..11474+, t, ttcdbSNP:33958593
11567+, gdbSNP:5855774
11598+a, gdbSNP:115335747
11675+c, tdbSNP:2159172
11855+c, tdbSNP:73792382
11856+a, gdbSNP:185984868
11918+c, tdbSNP:141042597
12044+a, gdbSNP:190661859
12122+a, cdbSNP:112989843
12366+c, tdbSNP:77140169
12390+a, gdbSNP:144163319
12469+a, gdbSNP:2237008
12470+c, tdbSNP:139507275
12690+g, tdbSNP:114691062
12697+c, tdbSNP:187717515
12722+c, tdbSNP:362300
12851+a, gdbSNP:2530595
12917+a, gdbSNP:192163538
13058+a, gdbSNP:183027246
13113+a, tdbSNP:28475694
13130+c, tdbSNP:142559407
13167+c, tdbSNP:150960575
13215+a, gdbSNP:187319754
13286+c, tdbSNP:61745472
13293+a, gdbSNP:1803770
13320..13321+, cdbSNP:35915896
13342+a, gdbSNP:184486879
13348+c, tdbSNP:140805376
13374+a, gdbSNP:1803771
13405+c, tdbSNP:189515556
Gene SymbolHTT
Gene SynonymHD; IT15
Chromosome4
Locus Map4p16.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_002111 Homo sapiens huntingtin (HTT), mRNA. Full Length Quote
ORF Sequence Quote
Title Membrane interactions of the amphipathic amino terminus of huntingtin .
Author Michalek,M., Salnikov,E.S., Werten,S. and Bechinger,B.
Journal Biochemistry 52 (5), 847-858 (2013)
Title Mutant huntingtin impairs immune cell migration in Huntington disease .
Author Kwan,W., Trager,U., Davalos,D., Chou,A., Bouchard,J., Andre,R., Miller,A., Weiss,A., Giorgini,F., Cheah,C., Moller,T., Stella,N., Akassoglou,K., Tabrizi,S.J. and Muchowski,P.J.
Journal J. Clin. Invest. 122 (12), 4737-4747 (2012)
Title Identification of a karyopherin beta1/beta2 proline-tyrosine nuclear localization signal in huntingtin protein .
Author Desmond,C.R., Atwal,R.S., Xia,J. and Truant,R.
Journal J. Biol. Chem. 287 (47), 39626-39633 (2012)
Title A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease .
Author Yu-Taeger,L., Petrasch-Parwez,E., Osmand,A.P., Redensek,A., Metzger,S., Clemens,L.E., Park,L., Howland,D., Calaminus,C., Gu,X., Pichler,B., Yang,X.W., Riess,O. and Nguyen,H.P.
Journal J. Neurosci. 32 (44), 15426-15438 (2012)
Title The role of chaperone-mediated autophagy in huntingtin degradation .
Author Qi,L., Zhang,X.D., Wu,J.C., Lin,F., Wang,J., DiFiglia,M. and Qin,Z.H.
Journal PLoS ONE 7 (10), E46834 (2012)
Title A huntingtin-associated protein enriched in brain with implications for pathology .
Author Li,X.J., Li,S.H., Sharp,A.H., Nucifora,F.C. Jr., Schilling,G., Lanahan,A., Worley,P., Snyder,S.H. and Ross,C.A.
Journal Nature 378 (6555), 398-402 (1995)
Title Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies .
Author Gutekunst,C.A., Levey,A.I., Heilman,C.J., Whaley,W.L., Yi,H., Nash,N.R., Rees,H.D., Madden,J.J. and Hersch,S.M.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (19), 8710-8714 (1995)
Title Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons .
Author DiFiglia,M., Sapp,E., Chase,K., Schwarz,C., Meloni,A., Young,C., Martin,E., Vonsattel,J.P., Carraway,R., Reeves,S.A. et al.
Journal Neuron 14 (5), 1075-1081 (1995)
Title Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form .
Author Trottier,Y., Devys,D., Imbert,G., Saudou,F., An,I., Lutz,Y., Weber,C., Agid,Y., Hirsch,E.C. and Mandel,J.L.
Journal Nat. Genet. 10 (1), 104-110 (1995)
Title The Huntington's disease candidate region exhibits many different haplotypes .
Author MacDonald,M.E., Novelletto,A., Lin,C., Tagle,D., Barnes,G., Bates,G., Taylor,S., Allitto,B., Altherr,M., Myers,R. et al.
Journal Nat. Genet. 1 (2), 99-103 (1992)

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