Huntingtin

Details

Name

Huntingtin

Synonyms

HD
HD protein
Huntington disease protein
IT15

Gene Name

HTT

Organism

Humans

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

Functions

beta-tubulin binding / dynactin binding / dynein intermediate chain binding / heat shock protein binding / identical protein binding / ion channel binding / kinase binding / p53 binding / profilin binding / transcription factor binding

Processes

animal organ development / apoptotic process / establishment of mitotic spindle orientation / Golgi organization / negative regulation of extrinsic apoptotic signaling pathway / positive regulation of aggrephagy / positive regulation of apoptotic process / positive regulation of cilium assembly / positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity / positive regulation of lipophagy / positive regulation of mitophagy / protein destabilization / regulation of phosphoprotein phosphatase activity / retrograde vesicle-mediated transport, Golgi to ER / vesicle transport along microtubule / vocal learning

Components

autophagosome / axon / centriole / cytoplasm / cytoplasmic vesicle membrane / cytosol / dendrite / endoplasmic reticulum / Golgi apparatus / inclusion body / late endosome / nucleoplasm / nucleus / perinuclear region of cytoplasm / protein complex

General Function

May play a role in microtubule-mediated transport or vesicle function.

Specific Function

Beta-tubulin binding

Pfam Domain Function

DUF3652 (PF12372)

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

Locus

4p16.3

External Identifiers

Resource	Link
UniProtKB ID	P42858
UniProtKB Entry Name	HD_HUMAN
HGNC ID	HGNC:4851

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]
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Drug Relations

Drug Relations

DrugBank ID	Name	Drug group	Pharmacological action?	Actions	Details
DB09130	Copper	approved, investigational	unknown		Details