Huntingtin
Details
- Name
- Huntingtin
- Kind
- protein
- Synonyms
- HD
- HD protein
- Huntington disease protein
- IT15
- Gene Name
- HTT
- UniProtKB Entry
- P42858Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0049704|Huntingtin MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQP LLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPE FQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAP RSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMASFG NFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLV PVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYEL TLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSI VELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAA SSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVSAV PSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQD EDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGDQE NKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVG AAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSIL SRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSS SYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGL LKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSV YLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRA LTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFP LDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQ LFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSP KKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNST EKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLF GTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQ AEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTT CVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFF LVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADA GKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAK QQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAIL RVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETF SRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAAT RLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKR HSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLI VNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGI HLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQ EYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWY VHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQ KSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPT LARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLD CCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAIS EEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLA RLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTS RTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAG NPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPV PSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEE EEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEV VRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVA EPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHC VNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALR GLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSD PNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGE FLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFF VSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVA APGSPYHRLLTCLRNVHKVTTC
- Number of residues
- 3142
- Molecular Weight
- 347599.665
- Theoretical pI
- Not Available
- GO Classification
- Functionstransmembrane transporter bindingProcessesmicrotubule-based transport / regulation of CAMKK-AMPK signaling cascade / regulation of cAMP-dependent protein kinase activity / retrograde vesicle-mediated transport, Golgi to endoplasmic reticulumComponentsearly endosome / postsynaptic cytosol / presynaptic cytosol / protein-containing complex
- General Function
- May play a role in microtubule-mediated transport or vesicle function
- Specific Function
- Beta-tubulin binding
- Pfam Domain Function
- Signal Regions
- Not Available
- Transmembrane Regions
- Not Available
- Cellular Location
- Cytoplasm
- Gene sequence
>lcl|BSEQ0049705|Huntingtin (HTT) ATGGCGACCCTGGAAAAGCTGATGAAGGCCTTCGAGTCCCTCAAGTCCTTCCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAG CCGCCACCGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCCTCAGCCGCCGCCGCAGGCA CAGCCGCTGCTGCCTCAGCCGCAGCCGCCCCCGCCGCCGCCCCCGCCGCCACCCGGCCCG GCTGTGGCTGAGGAGCCGCTGCACCGACCAAAGAAAGAACTTTCAGCTACCAAGAAAGAC CGTGTGAATCATTGTCTGACAATATGTGAAAACATAGTGGCACAGTCTGTCAGAAATTCT CCAGAATTTCAGAAACTTCTGGGCATCGCTATGGAACTTTTTCTGCTGTGCAGTGATGAC GCAGAGTCAGATGTCAGGATGGTGGCTGACGAATGCCTCAACAAAGTTATCAAAGCTTTG ATGGATTCTAATCTTCCAAGGTTACAGCTCGAGCTCTATAAGGAAATTAAAAAGAATGGT GCCCCTCGGAGTTTGCGTGCTGCCCTGTGGAGGTTTGCTGAGCTGGCTCACCTGGTTCGG CCTCAGAAATGCAGGCCTTACCTGGTGAACCTTCTGCCGTGCCTGACTCGAACAAGCAAG AGACCCGAAGAATCAGTCCAGGAGACCTTGGCTGCAGCTGTTCCCAAAATTATGGCTTCT TTTGGCAATTTTGCAAATGACAATGAAATTAAGGTTTTGTTAAAGGCCTTCATAGCGAAC CTGAAGTCAAGCTCCCCCACCATTCGGCGGACAGCGGCTGGATCAGCAGTGAGCATCTGC CAGCACTCAAGAAGGACACAATATTTCTATAGTTGGCTACTAAATGTGCTCTTAGGCTTA CTCGTTCCTGTCGAGGATGAACACTCCACTCTGCTGATTCTTGGCGTGCTGCTCACCCTG AGGTATTTGGTGCCCTTGCTGCAGCAGCAGGTCAAGGACACAAGCCTGAAAGGCAGCTTC GGAGTGACAAGGAAAGAAATGGAAGTCTCTCCTTCTGCAGAGCAGCTTGTCCAGGTTTAT GAACTGACGTTACATCATACACAGCACCAAGACCACAATGTTGTGACCGGAGCCCTGGAG CTGTTGCAGCAGCTCTTCAGAACGCCTCCACCCGAGCTTCTGCAAACCCTGACCGCAGTC GGGGGCATTGGGCAGCTCACCGCTGCTAAGGAGGAGTCTGGTGGCCGAAGCCGTAGTGGG AGTATTGTGGAACTTATAGCTGGAGGGGGTTCCTCATGCAGCCCTGTCCTTTCAAGAAAA CAAAAAGGCAAAGTGCTCTTAGGAGAAGAAGAAGCCTTGGAGGATGACTCTGAATCGAGA TCGGATGTCAGCAGCTCTGCCTTAACAGCCTCAGTGAAGGATGAGATCAGTGGAGAGCTG GCTGCTTCTTCAGGGGTTTCCACTCCAGGGTCAGCAGGTCATGACATCATCACAGAACAG CCACGGTCACAGCACACACTGCAGGCGGACTCAGTGGATCTGGCCAGCTGTGACTTGACA AGCTCTGCCACTGATGGGGATGAGGAGGATATCTTGAGCCACAGCTCCAGCCAGGTCAGC GCCGTCCCATCTGACCCTGCCATGGACCTGAATGATGGGACCCAGGCCTCGTCGCCCATC AGCGACAGCTCCCAGACCACCACCGAAGGGCCTGATTCAGCTGTTACCCCTTCAGACAGT TCTGAAATTGTGTTAGACGGTACCGACAACCAGTATTTGGGCCTGCAGATTGGACAGCCC CAGGATGAAGATGAGGAAGCCACAGGTATTCTTCCTGATGAAGCCTCGGAGGCCTTCAGG AACTCTTCCATGGCCCTTCAACAGGCACATTTATTGAAAAACATGAGTCACTGCAGGCAG CCTTCTGACAGCAGTGTTGATAAATTTGTGTTGAGAGATGAAGCTACTGAACCGGGTGAT CAAGAAAACAAGCCTTGCCGCATCAAAGGTGACATTGGACAGTCCACTGATGATGACTCT GCACCTCTTGTCCATTGTGTCCGCCTTTTATCTGCTTCGTTTTTGCTAACAGGGGGAAAA AATGTGCTGGTTCCGGACAGGGATGTGAGGGTCAGCGTGAAGGCCCTGGCCCTCAGCTGT GTGGGAGCAGCTGTGGCCCTCCACCCGGAATCTTTCTTCAGCAAACTCTATAAAGTTCCT CTTGACACCACGGAATACCCTGAGGAACAGTATGTCTCAGACATCTTGAACTACATCGAT CATGGAGACCCACAGGTTCGAGGAGCCACTGCCATTCTCTGTGGGACCCTCATCTGCTCC ATCCTCAGCAGGTCCCGCTTCCACGTGGGAGATTGGATGGGCACCATTAGAACCCTCACA GGAAATACATTTTCTTTGGCGGATTGCATTCCTTTGCTGCGGAAAACACTGAAGGATGAG TCTTCTGTTACTTGCAAGTTAGCTTGTACAGCTGTGAGGAACTGTGTCATGAGTCTCTGC AGCAGCAGCTACAGTGAGTTAGGACTGCAGCTGATCATCGATGTGCTGACTCTGAGGAAC AGTTCCTATTGGCTGGTGAGGACAGAGCTTCTGGAAACCCTTGCAGAGATTGACTTCAGG CTGGTGAGCTTTTTGGAGGCAAAAGCAGAAAACTTACACAGAGGGGCTCATCATTATACA GGGCTTTTAAAACTGCAAGAACGAGTGCTCAATAATGTTGTCATCCATTTGCTTGGAGAT GAAGACCCCAGGGTGCGACATGTTGCCGCAGCATCACTAATTAGGCTTGTCCCAAAGCTG TTTTATAAATGTGACCAAGGACAAGCTGATCCAGTAGTGGCCGTGGCAAGAGATCAAAGC AGTGTTTACCTGAAACTTCTCATGCATGAGACGCAGCCTCCATCTCATTTCTCCGTCAGC ACAATAACCAGAATATATAGAGGCTATAACCTACTACCAAGCATAACAGACGTCACTATG GAAAATAACCTTTCAAGAGTTATTGCAGCAGTTTCTCATGAACTAATCACATCAACCACC AGAGCACTCACATTTGGATGCTGTGAAGCTTTGTGTCTTCTTTCCACTGCCTTCCCAGTT TGCATTTGGAGTTTAGGTTGGCACTGTGGAGTGCCTCCACTGAGTGCCTCAGATGAGTCT AGGAAGAGCTGTACCGTTGGGATGGCCACAATGATTCTGACCCTGCTCTCGTCAGCTTGG TTCCCATTGGATCTCTCAGCCCATCAAGATGCTTTGATTTTGGCCGGAAACTTGCTTGCA GCCAGTGCTCCCAAATCTCTGAGAAGTTCATGGGCCTCTGAAGAAGAAGCCAACCCAGCA GCCACCAAGCAAGAGGAGGTCTGGCCAGCCCTGGGGGACCGGGCCCTGGTGCCCATGGTG GAGCAGCTCTTCTCTCACCTGCTGAAGGTGATTAACATTTGTGCCCACGTCCTGGATGAC GTGGCTCCTGGACCCGCAATAAAGGCAGCCTTGCCTTCTCTAACAAACCCCCCTTCTCTA AGTCCCATCCGACGAAAGGGGAAGGAGAAAGAACCAGGAGAACAAGCATCTGTACCGTTG AGTCCCAAGAAAGGCAGTGAGGCCAGTGCAGCTTCTAGACAATCTGATACCTCAGGTCCT GTTACAACAAGTAAATCCTCATCACTGGGGAGTTTCTATCATCTTCCTTCATACCTCAAA CTGCATGATGTCCTGAAAGCTACACACGCTAACTACAAGGTCACGCTGGATCTTCAGAAC AGCACGGAAAAGTTTGGAGGGTTTCTCCGCTCAGCCTTGGATGTTCTTTCTCAGATACTA GAGCTGGCCACACTGCAGGACATTGGGAAGTGTGTTGAAGAGATCCTAGGATACCTGAAA TCCTGCTTTAGTCGAGAACCAATGATGGCAACTGTTTGTGTTCAACAATTGTTGAAGACT CTCTTTGGCACAAACTTGGCCTCCCAGTTTGATGGCTTATCTTCCAACCCCAGCAAGTCA CAAGGCCGAGCACAGCGCCTTGGCTCCTCCAGTGTGAGGCCAGGCTTGTACCACTACTGC TTCATGGCCCCGTACACCCACTTCACCCAGGCCCTCGCTGACGCCAGCCTGAGGAACATG GTGCAGGCGGAGCAGGAGAACGACACCTCGGGATGGTTTGATGTCCTCCAGAAAGTGTCT ACCCAGTTGAAGACAAACCTCACGAGTGTCACAAAGAACCGTGCAGATAAGAATGCTATT CATAATCACATTCGTTTGTTTGAACCTCTTGTTATAAAAGCTTTAAAACAGTACACGACT ACAACATGTGTGCAGTTACAGAAGCAGGTTTTAGATTTGCTGGCGCAGCTGGTTCAGTTA CGGGTTAATTACTGTCTTCTGGATTCAGATCAGGTGTTTATTGGCTTTGTATTGAAACAG TTTGAATACATTGAAGTGGGCCAGTTCAGGGAATCAGAGGCAATCATTCCAAACATCTTT TTCTTCTTGGTATTACTATCTTATGAACGCTATCATTCAAAACAGATCATTGGAATTCCT AAAATCATTCAGCTCTGTGATGGCATCATGGCCAGTGGAAGGAAGGCTGTGACACATGCC ATACCGGCTCTGCAGCCCATAGTCCACGACCTCTTTGTATTAAGAGGAACAAATAAAGCT GATGCAGGAAAAGAGCTTGAAACCCAAAAAGAGGTGGTGGTGTCAATGTTACTGAGACTC ATCCAGTACCATCAGGTGTTGGAGATGTTCATTCTTGTCCTGCAGCAGTGCCACAAGGAG AATGAAGACAAGTGGAAGCGACTGTCTCGACAGATAGCTGACATCATCCTCCCAATGTTA GCCAAACAGCAGATGCACATTGACTCTCATGAAGCCCTTGGAGTGTTAAATACATTATTT GAGATTTTGGCCCCTTCCTCCCTCCGTCCGGTAGACATGCTTTTACGGAGTATGTTCGTC ACTCCAAACACAATGGCGTCCGTGAGCACTGTTCAACTGTGGATATCGGGAATTCTGGCC ATTTTGAGGGTTCTGATTTCCCAGTCAACTGAAGATATTGTTCTTTCTCGTATTCAGGAG CTCTCCTTCTCTCCGTATTTAATCTCCTGTACAGTAATTAATAGGTTAAGAGATGGGGAC AGTACTTCAACGCTAGAAGAACACAGTGAAGGGAAACAAATAAAGAATTTGCCAGAAGAA ACATTTTCAAGGTTTCTATTACAACTGGTTGGTATTCTTTTAGAAGACATTGTTACAAAA CAGCTGAAGGTGGAAATGAGTGAGCAGCAACATACTTTCTATTGCCAGGAACTAGGCACA CTGCTAATGTGTCTGATCCACATCTTCAAGTCTGGAATGTTCCGGAGAATCACAGCAGCT GCCACTAGGCTGTTCCGCAGTGATGGCTGTGGCGGCAGTTTCTACACCCTGGACAGCTTG AACTTGCGGGCTCGTTCCATGATCACCACCCACCCGGCCCTGGTGCTGCTCTGGTGTCAG ATACTGCTGCTTGTCAACCACACCGACTACCGCTGGTGGGCAGAAGTGCAGCAGACCCCG AAAAGACACAGTCTGTCCAGCACAAAGTTACTTAGTCCCCAGATGTCTGGAGAAGAGGAG GATTCTGACTTGGCAGCCAAACTTGGAATGTGCAATAGAGAAATAGTACGAAGAGGGGCT CTCATTCTCTTCTGTGATTATGTCTGTCAGAACCTCCATGACTCCGAGCACTTAACGTGG CTCATTGTAAATCACATTCAAGATCTGATCAGCCTTTCCCACGAGCCTCCAGTACAGGAC TTCATCAGTGCCGTTCATCGGAACTCTGCTGCCAGCGGCCTGTTCATCCAGGCAATTCAG TCTCGTTGTGAAAACCTTTCAACTCCAACCATGCTGAAGAAAACTCTTCAGTGCTTGGAG GGGATCCATCTCAGCCAGTCGGGAGCTGTGCTCACGCTGTATGTGGACAGGCTTCTGTGC ACCCCTTTCCGTGTGCTGGCTCGCATGGTCGACATCCTTGCTTGTCGCCGGGTAGAAATG CTTCTGGCTGCAAATTTACAGAGCAGCATGGCCCAGTTGCCAATGGAAGAACTCAACAGA ATCCAGGAATACCTTCAGAGCAGCGGGCTCGCTCAGAGACACCAAAGGCTCTATTCCCTG CTGGACAGGTTTCGTCTCTCCACCATGCAAGACTCACTTAGTCCCTCTCCTCCAGTCTCT TCCCACCCGCTGGACGGGGATGGGCACGTGTCACTGGAAACAGTGAGTCCGGACAAAGAC TGGTACGTTCATCTTGTCAAATCCCAGTGTTGGACCAGGTCAGATTCTGCACTGCTGGAA GGTGCAGAGCTGGTGAATCGGATTCCTGCTGAAGATATGAATGCCTTCATGATGAACTCG GAGTTCAACCTAAGCCTGCTAGCTCCATGCTTAAGCCTAGGGATGAGTGAAATTTCTGGT GGCCAGAAGAGTGCCCTTTTTGAAGCAGCCCGTGAGGTGACTCTGGCCCGTGTGAGCGGC ACCGTGCAGCAGCTCCCTGCTGTCCATCATGTCTTCCAGCCCGAGCTGCCTGCAGAGCCG GCGGCCTACTGGAGCAAGTTGAATGATCTGTTTGGGGATGCTGCACTGTATCAGTCCCTG CCCACTCTGGCCCGGGCCCTGGCACAGTACCTGGTGGTGGTCTCCAAACTGCCCAGTCAT TTGCACCTTCCTCCTGAGAAAGAGAAGGACATTGTGAAATTCGTGGTGGCAACCCTTGAG GCCCTGTCCTGGCATTTGATCCATGAGCAGATCCCGCTGAGTCTGGATCTCCAGGCAGGG CTGGACTGCTGCTGCCTGGCCCTGCAGCTGCCTGGCCTCTGGAGCGTGGTCTCCTCCACA GAGTTTGTGACCCACGCCTGCTCCCTCATCTACTGTGTGCACTTCATCCTGGAGGCCGTT GCAGTGCAGCCTGGAGAGCAGCTTCTTAGTCCAGAAAGAAGGACAAATACCCCAAAAGCC ATCAGCGAGGAGGAGGAGGAAGTAGATCCAAACACACAGAATCCTAAGTATATCACTGCA GCCTGTGAGATGGTGGCAGAAATGGTGGAGTCTCTGCAGTCGGTGTTGGCCTTGGGTCAT AAAAGGAATAGCGGCGTGCCGGCGTTTCTCACGCCATTGCTAAGGAACATCATCATCAGC CTGGCCCGCCTGCCCCTTGTCAACAGCTACACACGTGTGCCCCCACTGGTGTGGAAGCTT GGATGGTCACCCAAACCGGGAGGGGATTTTGGCACAGCATTCCCTGAGATCCCCGTGGAG TTCCTCCAGGAAAAGGAAGTCTTTAAGGAGTTCATCTACCGCATCAACACACTAGGCTGG ACCAGTCGTACTCAGTTTGAAGAAACTTGGGCCACCCTCCTTGGTGTCCTGGTGACGCAG CCCCTCGTGATGGAGCAGGAGGAGAGCCCACCAGAAGAAGACACAGAGAGGACCCAGATC AACGTCCTGGCCGTGCAGGCCATCACCTCACTGGTGCTCAGTGCAATGACTGTGCCTGTG GCCGGCAACCCAGCTGTAAGCTGCTTGGAGCAGCAGCCCCGGAACAAGCCTCTGAAAGCT CTCGACACCAGGTTTGGGAGGAAGCTGAGCATTATCAGAGGGATTGTGGAGCAAGAGATT CAAGCAATGGTTTCAAAGAGAGAGAATATTGCCACCCATCATTTATATCAGGCATGGGAT CCTGTCCCTTCTCTGTCTCCGGCTACTACAGGTGCCCTCATCAGCCACGAGAAGCTGCTG CTACAGATCAACCCCGAGCGGGAGCTGGGGAGCATGAGCTACAAACTCGGCCAGGTGTCC ATACACTCCGTGTGGCTGGGGAACAGCATCACACCCCTGAGGGAGGAGGAATGGGACGAG GAAGAGGAGGAGGAGGCCGACGCCCCTGCACCTTCGTCACCACCCACGTCTCCAGTCAAC TCCAGGAAACACCGGGCTGGAGTTGACATCCACTCCTGTTCGCAGTTTTTGCTTGAGTTG TACAGCCGCTGGATCCTGCCGTCCAGCTCAGCCAGGAGGACCCCGGCCATCCTGATCAGT GAGGTGGTCAGATCCCTTCTAGTGGTCTCAGACTTGTTCACCGAGCGCAACCAGTTTGAG CTGATGTATGTGACGCTGACAGAACTGCGAAGGGTGCACCCTTCAGAAGACGAGATCCTC GCTCAGTACCTGGTGCCTGCCACCTGCAAGGCAGCTGCCGTCCTTGGGATGGACAAGGCC GTGGCGGAGCCTGTCAGCCGCCTGCTGGAGAGCACGCTCAGGAGCAGCCACCTGCCCAGC AGGGTTGGAGCCCTGCACGGCGTCCTCTATGTGCTGGAGTGCGACCTGCTGGACGACACT GCCAAGCAGCTCATCCCGGTCATCAGCGACTATCTCCTCTCCAACCTGAAAGGGATCGCC CACTGCGTGAACATTCACAGCCAGCAGCACGTACTGGTCATGTGTGCCACTGCGTTTTAC CTCATTGAGAACTATCCTCTGGACGTAGGGCCGGAATTTTCAGCATCAATAATACAGATG TGTGGGGTGATGCTGTCTGGAAGTGAGGAGTCCACCCCCTCCATCATTTACCACTGTGCC CTCAGAGGCCTGGAGCGCCTCCTGCTCTCTGAGCAGCTCTCCCGCCTGGATGCAGAATCG CTGGTCAAGCTGAGTGTGGACAGAGTGAACGTGCACAGCCCGCACCGGGCCATGGCGGCT CTGGGCCTGATGCTCACCTGCATGTACACAGGAAAGGAGAAAGTCAGTCCGGGTAGAACT TCAGACCCTAATCCTGCAGCCCCCGACAGCGAGTCAGTGATTGTTGCTATGGAGCGGGTA TCTGTTCTTTTTGATAGGATCAGGAAAGGCTTTCCTTGTGAAGCCAGAGTGGTGGCCAGG ATCCTGCCCCAGTTTCTAGACGACTTCTTCCCACCCCAGGACATCATGAACAAAGTCATC GGAGAGTTTCTGTCCAACCAGCAGCCATACCCCCAGTTCATGGCCACCGTGGTGTATAAG GTGTTTCAGACTCTGCACAGCACCGGGCAGTCGTCCATGGTCCGGGACTGGGTCATGCTG TCCCTCTCCAACTTCACGCAGAGGGCCCCGGTCGCCATGGCCACGTGGAGCCTCTCCTGC TTCTTTGTCAGCGCGTCCACCAGCCCGTGGGTCGCGGCGATCCTCCCACATGTCATCAGC AGGATGGGCAAGCTGGAGCAGGTGGACGTGAACCTTTTCTGCCTGGTCGCCACAGACTTC TACAGACACCAGATAGAGGAGGAGCTCGACCGCAGGGCCTTCCAGTCTGTGCTTGAGGTG GTTGCAGCCCCAGGAAGCCCATATCACCGGCTGCTGACTTGTTTACGAAATGTCCACAAG GTCACCACCTGCTGA
- Chromosome Location
- 4
- Locus
- 4p16.3
- External Identifiers
Resource Link UniProtKB ID P42858 UniProtKB Entry Name HD_HUMAN GeneCard ID HTT HGNC ID HGNC:4851 PDB ID(s) 2LD0, 2LD2, 3IO4, 3IO6, 3IOR, 3IOT, 3IOU, 3IOV, 3IOW, 3LRH, 4FE8, 4FEB, 4FEC, 4FED, 4RAV, 6EZ8, 6N8C, 6RMH, 6X9O, 6YEJ, 7DXJ, 7DXK, 8SAH, 8VLX, 8W15 KEGG ID hsa:3064 NCBI Gene ID 3064 - General References
- Authors unspecified: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. Cell. 1993 Mar 26;72(6):971-83. [Article]
- Matsuyama N, Hadano S, Onoe K, Osuga H, Showguchi-Miyata J, Gondo Y, Ikeda JE: Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat. Genomics. 2000 Oct 1;69(1):72-85. [Article]
- Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [Article]
- Ambrose CM, Duyao MP, Barnes G, Bates GP, Lin CS, Srinidhi J, Baxendale S, Hummerich H, Lehrach H, Altherr M, et al.: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat Cell Mol Genet. 1994 Jan;20(1):27-38. [Article]
- Lin B, Nasir J, Kalchman MA, McDonald H, Zeisler J, Goldberg YP, Hayden MR: Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. Genomics. 1995 Feb 10;25(3):707-15. [Article]
- Lin B, Rommens JM, Graham RK, Kalchman M, MacDonald H, Nasir J, Delaney A, Goldberg YP, Hayden MR: Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Hum Mol Genet. 1993 Oct;2(10):1541-5. [Article]
- Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL: Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet. 1995 May;10(1):104-10. [Article]
- Goldberg YP, Nicholson DW, Rasper DM, Kalchman MA, Koide HB, Graham RK, Bromm M, Kazemi-Esfarjani P, Thornberry NA, Vaillancourt JP, Hayden MR: Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet. 1996 Aug;13(4):442-9. [Article]
- Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME: Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet. 1998 Sep;7(9):1463-74. [Article]
- Waragai M, Lammers CH, Takeuchi S, Imafuku I, Udagawa Y, Kanazawa I, Kawabata M, Mouradian MM, Okazawa H: PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survival. Hum Mol Genet. 1999 Jun;8(6):977-87. [Article]
- Passani LA, Bedford MT, Faber PW, McGinnis KM, Sharp AH, Gusella JF, Vonsattel JP, MacDonald ME: Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. Hum Mol Genet. 2000 Sep 1;9(14):2175-82. [Article]
- Rega S, Stiewe T, Chang DI, Pollmeier B, Esche H, Bardenheuer W, Marquitan G, Putzer BM: Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor. Mol Cell Neurosci. 2001 Jul;18(1):68-79. [Article]
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