HTT (англ. Huntingtin) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 4-ї хромосоми. Довжина поліпептидного ланцюга білка становить 3 142 амінокислот, а молекулярна маса — 347 603. Мутація в цьому гені спричиняє хворобу Гантінгтона.
HTT | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | HTT, HD, IT15, huntingtin, LOMARS | ||||||||||||||||
Зовнішні ІД | OMIM: 613004 MGI: 96067 HomoloGene: 1593 GeneCards: HTT | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
хвороба Гантінгтона | |||||||||||||||||
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Шаблон експресії | |||||||||||||||||
Більше даних | |||||||||||||||||
Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 4: 3.04 – 3.24 Mb | Хр. 5: 34.92 – 35.07 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MATLEKLMKA | FESLKSFQQQ | QQQQQQQQQQ | QQQQQQQQPP | PPPPPPPPPQ | ||||
LPQPPPQAQP | LLPQPQPPPP | PPPPPPGPAV | AEEPLHRPKK | ELSATKKDRV | ||||
NHCLTICENI | VAQSVRNSPE | FQKLLGIAME | LFLLCSDDAE | SDVRMVADEC | ||||
LNKVIKALMD | SNLPRLQLEL | YKEIKKNGAP | RSLRAALWRF | AELAHLVRPQ | ||||
KCRPYLVNLL | PCLTRTSKRP | EESVQETLAA | AVPKIMASFG | NFANDNEIKV | ||||
LLKAFIANLK | SSSPTIRRTA | AGSAVSICQH | SRRTQYFYSW | LLNVLLGLLV | ||||
PVEDEHSTLL | ILGVLLTLRY | LVPLLQQQVK | DTSLKGSFGV | TRKEMEVSPS | ||||
AEQLVQVYEL | TLHHTQHQDH | NVVTGALELL | QQLFRTPPPE | LLQTLTAVGG | ||||
IGQLTAAKEE | SGGRSRSGSI | VELIAGGGSS | CSPVLSRKQK | GKVLLGEEEA | ||||
LEDDSESRSD | VSSSALTASV | KDEISGELAA | SSGVSTPGSA | GHDIITEQPR | ||||
SQHTLQADSV | DLASCDLTSS | ATDGDEEDIL | SHSSSQVSAV | PSDPAMDLND | ||||
GTQASSPISD | SSQTTTEGPD | SAVTPSDSSE | IVLDGTDNQY | LGLQIGQPQD | ||||
EDEEATGILP | DEASEAFRNS | SMALQQAHLL | KNMSHCRQPS | DSSVDKFVLR | ||||
DEATEPGDQE | NKPCRIKGDI | GQSTDDDSAP | LVHCVRLLSA | SFLLTGGKNV | ||||
LVPDRDVRVS | VKALALSCVG | AAVALHPESF | FSKLYKVPLD | TTEYPEEQYV | ||||
SDILNYIDHG | DPQVRGATAI | LCGTLICSIL | SRSRFHVGDW | MGTIRTLTGN | ||||
TFSLADCIPL | LRKTLKDESS | VTCKLACTAV | RNCVMSLCSS | SYSELGLQLI | ||||
IDVLTLRNSS | YWLVRTELLE | TLAEIDFRLV | SFLEAKAENL | HRGAHHYTGL | ||||
LKLQERVLNN | VVIHLLGDED | PRVRHVAAAS | LIRLVPKLFY | KCDQGQADPV | ||||
VAVARDQSSV | YLKLLMHETQ | PPSHFSVSTI | TRIYRGYNLL | PSITDVTMEN | ||||
NLSRVIAAVS | HELITSTTRA | LTFGCCEALC | LLSTAFPVCI | WSLGWHCGVP | ||||
PLSASDESRK | SCTVGMATMI | LTLLSSAWFP | LDLSAHQDAL | ILAGNLLAAS | ||||
APKSLRSSWA | SEEEANPAAT | KQEEVWPALG | DRALVPMVEQ | LFSHLLKVIN | ||||
ICAHVLDDVA | PGPAIKAALP | SLTNPPSLSP | IRRKGKEKEP | GEQASVPLSP | ||||
KKGSEASAAS | RQSDTSGPVT | TSKSSSLGSF | YHLPSYLKLH | DVLKATHANY | ||||
KVTLDLQNST | EKFGGFLRSA | LDVLSQILEL | ATLQDIGKCV | EEILGYLKSC | ||||
FSREPMMATV | CVQQLLKTLF | GTNLASQFDG | LSSNPSKSQG | RAQRLGSSSV | ||||
RPGLYHYCFM | APYTHFTQAL | ADASLRNMVQ | AEQENDTSGW | FDVLQKVSTQ | ||||
LKTNLTSVTK | NRADKNAIHN | HIRLFEPLVI | KALKQYTTTT | CVQLQKQVLD | ||||
LLAQLVQLRV | NYCLLDSDQV | FIGFVLKQFE | YIEVGQFRES | EAIIPNIFFF | ||||
LVLLSYERYH | SKQIIGIPKI | IQLCDGIMAS | GRKAVTHAIP | ALQPIVHDLF | ||||
VLRGTNKADA | GKELETQKEV | VVSMLLRLIQ | YHQVLEMFIL | VLQQCHKENE | ||||
DKWKRLSRQI | ADIILPMLAK | QQMHIDSHEA | LGVLNTLFEI | LAPSSLRPVD | ||||
MLLRSMFVTP | NTMASVSTVQ | LWISGILAIL | RVLISQSTED | IVLSRIQELS | ||||
FSPYLISCTV | INRLRDGDST | STLEEHSEGK | QIKNLPEETF | SRFLLQLVGI | ||||
LLEDIVTKQL | KVEMSEQQHT | FYCQELGTLL | MCLIHIFKSG | MFRRITAAAT | ||||
RLFRSDGCGG | SFYTLDSLNL | RARSMITTHP | ALVLLWCQIL | LLVNHTDYRW | ||||
WAEVQQTPKR | HSLSSTKLLS | PQMSGEEEDS | DLAAKLGMCN | REIVRRGALI | ||||
LFCDYVCQNL | HDSEHLTWLI | VNHIQDLISL | SHEPPVQDFI | SAVHRNSAAS | ||||
GLFIQAIQSR | CENLSTPTML | KKTLQCLEGI | HLSQSGAVLT | LYVDRLLCTP | ||||
FRVLARMVDI | LACRRVEMLL | AANLQSSMAQ | LPMEELNRIQ | EYLQSSGLAQ | ||||
RHQRLYSLLD | RFRLSTMQDS | LSPSPPVSSH | PLDGDGHVSL | ETVSPDKDWY | ||||
VHLVKSQCWT | RSDSALLEGA | ELVNRIPAED | MNAFMMNSEF | NLSLLAPCLS | ||||
LGMSEISGGQ | KSALFEAARE | VTLARVSGTV | QQLPAVHHVF | QPELPAEPAA | ||||
YWSKLNDLFG | DAALYQSLPT | LARALAQYLV | VVSKLPSHLH | LPPEKEKDIV | ||||
KFVVATLEAL | SWHLIHEQIP | LSLDLQAGLD | CCCLALQLPG | LWSVVSSTEF | ||||
VTHACSLIYC | VHFILEAVAV | QPGEQLLSPE | RRTNTPKAIS | EEEEEVDPNT | ||||
QNPKYITAAC | EMVAEMVESL | QSVLALGHKR | NSGVPAFLTP | LLRNIIISLA | ||||
RLPLVNSYTR | VPPLVWKLGW | SPKPGGDFGT | AFPEIPVEFL | QEKEVFKEFI | ||||
YRINTLGWTS | RTQFEETWAT | LLGVLVTQPL | VMEQEESPPE | EDTERTQINV | ||||
LAVQAITSLV | LSAMTVPVAG | NPAVSCLEQQ | PRNKPLKALD | TRFGRKLSII | ||||
RGIVEQEIQA | MVSKRENIAT | HHLYQAWDPV | PSLSPATTGA | LISHEKLLLQ | ||||
INPERELGSM | SYKLGQVSIH | SVWLGNSITP | LREEEWDEEE | EEEADAPAPS | ||||
SPPTSPVNSR | KHRAGVDIHS | CSQFLLELYS | RWILPSSSAR | RTPAILISEV | ||||
VRSLLVVSDL | FTERNQFELM | YVTLTELRRV | HPSEDEILAQ | YLVPATCKAA | ||||
AVLGMDKAVA | EPVSRLLEST | LRSSHLPSRV | GALHGVLYVL | ECDLLDDTAK | ||||
QLIPVISDYL | LSNLKGIAHC | VNIHSQQHVL | VMCATAFYLI | ENYPLDVGPE | ||||
FSASIIQMCG | VMLSGSEEST | PSIIYHCALR | GLERLLLSEQ | LSRLDAESLV | ||||
KLSVDRVNVH | SPHRAMAALG | LMLTCMYTGK | EKVSPGRTSD | PNPAAPDSES | ||||
VIVAMERVSV | LFDRIRKGFP | CEARVVARIL | PQFLDDFFPP | QDIMNKVIGE | ||||
FLSNQQPYPQ | FMATVVYKVF | QTLHSTGQSS | MVRDWVMLSL | SNFTQRAPVA | ||||
MATWSLSCFF | VSASTSPWVA | AILPHVISRM | GKLEQVDVNL | FCLVATDFYR | ||||
HQIEEELDRR | AFQSVLEVVA | APGSPYHRLL | TCLRNVHKVT | TC |
Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах як апоптоз, поліморфізм, ацетиляція. Локалізований у цитоплазмі, ядрі.
Література
- Xia J., Lee D.H., Taylor J., Vandelft M., Truant R. (2003). Huntingtin contains a highly conserved nuclear export signal. Hum. Mol. Genet. 12: 1393—1403. PMID 12783847 DOI:10.1093/hmg/ddg156
- Sayer J.A., Manczak M., Akileswaran L., Reddy P.H., Coghlan V.M. (2005). Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. NeuroMolecular Med. 7: 297—310. PMID 16391387 DOI:10.1385/NMM:7:4:297
- Anne S.L., Saudou F., Humbert S. (2007). Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons. J. Neurosci. 27: 7318—7328. PMID 17611284 DOI:10.1523/JNEUROSCI.1831-07.2007
- Shao J., Welch W.J., Diprospero N.A., Diamond M.I. (2008). Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. Mol. Cell. Biol. 28: 5196—5208. PMID 18573880 DOI:10.1128/MCB.00079-08
- Lemonidis K., Sanchez-Perez M.C., Chamberlain L.H. (2015). Identification of a novel sequence motif recognized by the ankyrin repeat domain of zDHHC17/13 S-acyltransferases. J. Biol. Chem. 290: 21939—21950. PMID 26198635 DOI:10.1074/jbc.M115.657668
- Kim M.W., Chelliah Y., Kim S.W., Otwinowski Z., Bezprozvanny I. (2009). Secondary structure of Huntingtin amino-terminal region. Structure. 17: 1205—1212. PMID 19748341 DOI:10.1016/j.str.2009.08.002
Примітки
- Захворювання, генетично пов'язані з HTT переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 30 серпня 2017. Процитовано 30 серпня 2017.
- (англ.) . Архів оригіналу за 30 серпня 2017. Процитовано 30 серпня 2017.
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HTT angl Huntingtin bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 4 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 3 142 aminokislot a molekulyarna masa 347 603 Mutaciya v comu geni sprichinyaye hvorobu Gantingtona HTTNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB3IO6 3IOU 3LRH 4FE8 4FEB 4FEC 4FED 2LD0 2LD2 3IO4 3IOR 3IOT 3IOV 3IOW 4RAVIdentifikatoriSimvoliHTT HD IT15 huntingtin LOMARSZovnishni ID OMIM 613004 MGI 96067 HomoloGene 1593 GeneCards HTTPov yazani genetichni zahvoryuvannyahvoroba GantingtonaOntologiya genaMolekulyarna funkciya profilin binding dynactin binding transmembrane transporter binding p53 binding transcription factor binding GO 0001948 GO 0016582 protein binding beta tubulin binding identical protein binding dynein intermediate chain binding kinase binding heat shock protein bindingKlitinna komponenta late endosome kompleks Goldzhi nukleoplazma autophagosome endoplazmatichnij retikulum Centriol cytoplasmic vesicle membrane dendrit nejrobiologiya gialoplazma akson klitinne yadro citoplazma inclusion body perinuclear region of cytoplasm GO 0009327 protein containing complex presynaptic cytosol postsynaptic cytosolBiologichnij proces animal organ development retrograde vesicle mediated transport Golgi to endoplasmic reticulum Golgi organization vesicle transport along microtubule negative regulation of extrinsic apoptotic signaling pathway establishment of mitotic spindle orientation positive regulation of cilium assembly positive regulation of inositol 1 4 5 trisphosphate sensitive calcium release channel activity GO 0097285 apoptoz vocal learning positive regulation of lipophagy positive regulation of autophagy of mitochondrion positive regulation of aggrephagy regulation of phosphoprotein phosphatase activity protein destabilization positive regulation of apoptotic process regulation of CAMKK AMPK signaling cascade regulation of cAMP dependent protein kinase activityDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez3064 15194Ensembl ENSG00000197386 ENSMUSG00000029104UniProt P42858 P42859RefSeq mRNK NM 002111 NM 001388492NM 010414RefSeq bilok NP 002102NP 034544Lokus UCSC Hr 4 3 04 3 24 MbHr 5 34 92 35 07 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishejPoslidovnist aminokislot1020304050MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQPLLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSIVELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTCA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak apoptoz polimorfizm acetilyaciya Lokalizovanij u citoplazmi yadri LiteraturaXia J Lee D H Taylor J Vandelft M Truant R 2003 Huntingtin contains a highly conserved nuclear export signal Hum Mol Genet 12 1393 1403 PMID 12783847 DOI 10 1093 hmg ddg156 Sayer J A Manczak M Akileswaran L Reddy P H Coghlan V M 2005 Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin implications for nuclear toxicity in Huntington s disease pathogenesis NeuroMolecular Med 7 297 310 PMID 16391387 DOI 10 1385 NMM 7 4 297 Anne S L Saudou F Humbert S 2007 Phosphorylation of huntingtin by cyclin dependent kinase 5 is induced by DNA damage and regulates wild type and mutant huntingtin toxicity in neurons J Neurosci 27 7318 7328 PMID 17611284 DOI 10 1523 JNEUROSCI 1831 07 2007 Shao J Welch W J Diprospero N A Diamond M I 2008 Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation Mol Cell Biol 28 5196 5208 PMID 18573880 DOI 10 1128 MCB 00079 08 Lemonidis K Sanchez Perez M C Chamberlain L H 2015 Identification of a novel sequence motif recognized by the ankyrin repeat domain of zDHHC17 13 S acyltransferases J Biol Chem 290 21939 21950 PMID 26198635 DOI 10 1074 jbc M115 657668 Kim M W Chelliah Y Kim S W Otwinowski Z Bezprozvanny I 2009 Secondary structure of Huntingtin amino terminal region Structure 17 1205 1212 PMID 19748341 DOI 10 1016 j str 2009 08 002PrimitkiZahvoryuvannya genetichno pov yazani z HTT pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 30 serpnya 2017 Procitovano 30 serpnya 2017 angl Arhiv originalu za 30 serpnya 2017 Procitovano 30 serpnya 2017 Div takozhHromosoma 4Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi