DNAH1
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Ідентифікатори
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Символи
| DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37 |
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Зовнішні ІД |
OMIM: 603332 MGI: 107721 HomoloGene: 67131 GeneCards: DNAH1
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Пов'язані генетичні захворювання |
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primary ciliary dyskinesia 37, asthenozoospermia[1] |
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Ортологи |
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Види |
Людина |
Миша |
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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. 3: 52.32 – 52.4 Mb
| Хр. 14: 30.98 – 31.05 Mb
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PubMed search |
[2]
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Вікідані |
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DNAH1 (англ. Dynein axonemal heavy chain 1) – білок, який кодується однойменним геном, розташованим у людей на 3-й хромосомі.[4] Довжина поліпептидного ланцюга білка становить 4 330 амінокислот, а молекулярна маса — 493 953[5].
Послідовність амінокислот
10 | | 20 | | 30 | | 40 | | 50 |
MEQPNSKGYS | | LGRTPQGPEC | | SSAPAVQVGT | | HRGLEYNPGK | | ILPGSDYGLG |
NPPALDPKLP | | HLPLPPAPPT | | LSDLGQPRKS | | PLTGTDKKYP | | LMKQRGFYSD |
ILSPGTLDQL | | GEVCRGPRMS | | QNLLRQADLD | | KFTPRVGSFE | | VPEDFQERME |
QQCIGSTTRL | | LAQTDFPLQA | | YEPKMQVPFQ | | VLPGQHPRKI | | EIERRKQQYL |
SLDIEQLLFS | | QGIDSNKLMP | | RHLDHQHPQT | | IEQGHDPIFP | | IYLPLKVFDN |
EDFDCRTPRE | | WINMGLEPGS | | LDRKPVPGKA | | LLPTDDFLGH | | EDPKSQKLKY |
KWCEVGVLDY | | DEEKKLYLVH | | KTDEKGLVRD | | EMGRPILNAG | | VTTEGRPPLQ |
VCQYWVPRIQ | | LLFCAEDPCM | | FAQRVVQANA | | LRKNTEALLL | | YNLYVDCMPS |
DGQHVISEQS | | LSKIKQWALS | | TPRMRKGPSV | | LEHLSSLARE | | VSLDYERSMN |
KINFDHVVSS | | KPETFSYVTL | | PKKEEEQVPE | | RGLVSVPKYH | | FWEQKEDFTF |
VSLLTRPEVI | | TALSKVRAEC | | NKVTAMSLFH | | SSLSKYSHLE | | EFEQIQSQTF |
SQVQMFLKDS | | WISSLKVAMR | | SSLRDMSKGW | | YNLYETNWEV | | YLMSKLRKLM |
ELVKYMLQDT | | LRFLVQDSLA | | SFSQFISDTC | | CSVLNCTDDM | | VWGDDLINSP |
YRPRKNPLFI | | MDLVLDSSGV | | HYSTPLEQFE | | ASLLNLFDKG | | ILATHAVPQL |
EKLVMEDIFI | | SGDPLLESVG | | LHEPLVEELR | | ATIASAVSKA | | MIPLQAYAKE |
YRKYLELNNN | | DIASFLKTYQ | | TQGLLAQEVR | | EVVLTHLREK | | EILDSSLPSS |
IIIGPFYINT | | DNVKQSLSKK | | RKALATSVLD | | ILAKNLHKEV | | DSICEEFRSI |
SRKIYEKPNS | | IEELAELREW | | MKGIPERLVG | | LEERIVKVMD | | DYQVMDEFLY |
NLSSDDFNDK | | WIASNWPSKI | | LGQIELVQQQ | | HVEDEEKFRK | | IQIMDQNNFQ |
EKLEGLQLVV | | AGFSIHVEIS | | RAHEIANEVR | | RVKKQLKDCQ | | QLAMLYNNRE |
RIFSLPITNY | | DKLSRMVKEF | | QPYLDLWTTA | | SDWLRWSESW | | MNDPLSAIDA |
EQLEKNVVEA | | FKTMHKCVKQ | | FKDMPACQEV | | ALDIRARIEE | | FKPYIPLIQG |
LRNPGMRIRH | | WETLSNQINI | | NVRPKANLTF | | ARCLEMNLQD | | HIESISKVAE |
VAGKEYAIEQ | | ALDKMEKEWS | | TILFNVLPYK | | ATDTYILKSP | | DEASQLLDDH |
IVMTQNMSFS | | PYKKPFEQRI | | NSWENKLKLT | | QEVLEEWLNC | | QRSWLYLEPI |
FSSEDINQQL | | PVESKRYQTM | | ERIWKKIMKN | | AYENREVINV | | CSDLRMLDSL |
RDCNKILDLV | | QKGLSEYLET | | KRSAFPRFYF | | LSDDELLEIL | | SQTKDPTAVQ |
PHLRKCFENI | | ARLLFQEDLE | | ITHMYSAEGE | | EVQLCFSIYP | | SSNVEDWLRE |
VERSMKASVH | | DIIEKAIRAY | | PTMPRTQWVL | | NWPGQVTIAG | | CQTYWTMEVA |
EALEAGNLRS | | QLFPQLCQQL | | SDLVALVRGK | | LSRMQRAVLS | | ALIVIEVHAK |
DVVSKLIQEN | | VVSVNDFQWI | | SQLRYYWTNN | | DLYIRAVNAE | | FIYGYEYLGN |
SGRLVITPLT | | DRCYLTLTGA | | LHLKFGGAPA | | GPAGTGKTET | | TKDLGKALAI |
QTVVFNCSDQ | | LDFMAMGKFF | | KGLASAGAWA | | CFDEFNRIDI | | EVLSVVAQQI |
TTIQKAQQQR | | VERFMFEGVE | | IPLVPSCAVF | | ITMNPGYAGR | | TELPDNLKAL |
FRPVAMMVPD | | YAMITEISLY | | SFGFNEASVL | | AKKITTTFKL | | SSEQLSSQDH |
YDFGMRAVKT | | VISAAGNLKR | | ENPSMNEELI | | CLRAIRDVNV | | PKFLQEDLKL |
FSGIVSDLFP | | TIKEEDTDYG | | ILDEAIREAC | | RNSNLKDVEG | | FLTKCIQLYE |
TTVVRHGLML | | VGPTGSGKST | | CYRVLAAAMT | | SLKGQPSISG | | GMYEAVNYYV |
LNPKSITMGQ | | LYGEFDLLTH | | EWTDGIFSSF | | IRAGAITSDT | | NKKWYMFDGP |
VDAIWIENMN | | TVLDDNKKLC | | LSSGEIIKLT | | EAMTMMFEVQ | | DLAVASPATV |
SRCGMVYLEP | | SILGLMPFIE | | CWLRKLPPLL | | KPYEEHFKAL | | FVSFLEESIS |
FVRSSVKEVI | | ASTNCNLTMS | | LLKLLDCFFK | | PFLPREGLKK | | IPSEKLSRIV |
ELIEPWFIFS | | LIWSVGATGD | | SSGRTSFSHW | | LRLKMENEQL | | TLLFPEEGLV |
FDYRLEDAGI | | SGTNDSEDEE | | EEYKQVAWVK | | WMDSSAPFTM | | VPDTNYCNII |
VPTMDTVQMS | | HLLDMLLTNK | | KPVLCIGPTG | | TGKTLTISDK | | LLKNLALDYI |
SHFLTFSART | | SANQTQDFID | | SKLDKRRKGV | | FGPPLGRNFI | | FFIDDLNMPA |
LETYGAQPPI | | ELLRQWMDHG | | GWYDRKIIGA | | FKNLVDINFV | | CAMGPPGGGR |
NTVTPRLMRH | | FNYLSFAEMD | | EVSKKRIFST | | ILGNWLDGLL | | GEKSYRERVP |
GAPHIAHFTE | | PLVEATIMVY | | ATITSQLLPT | | PAKSHYTFNL | | RDLSKVFQGM |
LMADPAKVED | | QVQLLRLWYH | | ENCRVFRDRL | | VNEEDRSWFD | | QLLKRCMEQW |
EVTFNKVCPF | | QPILYGDFMS | | PGSDVKSYEL | | ITSESKMMQV | | IEEYIEDYNQ |
INTAKLKLVL | | FMDAMSHICR | | ISRTLRQALG | | NALLLGVGGS | | GRSSLTRLAS |
HMAEYECFQI | | ELSKNYGMSE | | WRDDVKKVLL | | KAGLQNLPIT | | FLFSDTQIKN |
ESFLEDINNV | | LNSGDIPNLY | | TADEQDQIVS | | TMRPYIQEQG | | LQPTKANLMA |
AYTGRVRSNI | | HMVLCMSPIG | | EVFRARLRQF | | PSLVNCCTID | | WFNEWPAEAL |
KSVATVFLNE | | IPELESSQEE | | IQGLIQVCVY | | IHQSVSKKCI | | EYLAELTRHN |
YVTPKSYLEL | | LHIFSILIGQ | | KKLELKTAKN | | RMKSGLDKLL | | RTSEDVAKMQ |
EDLESMHPLL | | EEAAKDTMLT | | MEQIKVDTAI | | AEETRNSVQT | | EEIKANEKAK |
KAQAIADDAQ | | KDLDEALPAL | | DAALASLRNL | | NKNDVTEVRA | | MQRPPPGVKL |
VIEAVCIMKG | | IKPKKVPGEK | | PGTKVDDYWE | | PGKGLLQDPG | | HFLESLFKFD |
KDNIGDVVIK | | AIQPYIDNEE | | FQPATIAKVS | | KACTSICQWV | | RAMHKYHFVA |
KAVEPKRQAL | | LEAQDDLGVT | | QRILDEAKQR | | LREVEDGIAT | | MQAKYRECIT |
KKEELELKCE | | QCEQRLGRAG | | KVRTLLLQGL | | QAGPAQTGAR | | KDQGAGGSWG |
GCPHPLPGNP | | GATVGRASPR | | PLAQPPRAHP | | TGLPLQLING | | LSDEKVRWQE |
TVENLQYMLN | | NISGDVLVAA | | GFVAYLGPFT | | GQYRTVLYDS | | WVKQLRSHNV |
PHTSEPTLIG | | TLGNPVKIRS | | WQIAGLPNDT | | LSVENGVINQ | | FSQRWTHFID |
PQSQANKWIK | | NMEKDNGLDV | | FKLSDRDFLR | | SMENAIRFGK | | PCLLENVGEE |
LDPALEPVLL | | KQTYKQQGNT | | VLKLGDTVIP | | YHEDFRMYIT | | TKLPNPHYTP |
EISTKLTLIN | | FTLSPSGLED | | QLLGQVVAEE | | RPDLEEAKNQ | | LIISNAKMRQ |
ELKDIEDQIL | | YRLSSSEGNP | | VDDMELIKVL | | EASKMKAAEI | | QAKVRIAEQT |
EKDIDLTRME | | YIPVAIRTQI | | LFFCVSDLAN | | VDPMYQYSLE | | WFLNIFLSGI |
ANSERADNLK | | KRISNINRYL | | TYSLYSNVCR | | SLFEKHKLMF | | AFLLCVRIMM |
NEGKINQSEW | | RYLLSGGSIS | | IMTENPAPDW | | LSDRAWRDIL | | ALSNLPTFSS |
FSSDFVKHLS | | EFRVIFDSLE | | PHREPLPGIW | | DQYLDQFQKL | | LVLRCLRGDK |
VTNAMQDFVA | | TNLEPRFIEP | | QTANLSVVFK | | DSNSTTPLIF | | VLSPGTDPAA |
DLYKFAEEMK | | FSKKLSAISL | | GQGQGPRAEA | | MMRSSIERGK | | WVFFQNCHLA |
PSWMPALERL | | IEHINPDKVH | | RDFRLWLTSL | | PSNKFPVSIL | | QNGSKMTIEP |
PRGVRANLLK | | SYSSLGEDFL | | NSCHKVMEFK | | SLLLSLCLFH | | GNALERHKFG |
PLGFNIPYEF | | TDGDLRICIS | | QLKMFLDEYD | | DIPYKVLKYT | | AGEINYGGRV |
TDDWDRRCIM | | NILEDFYNPD | | VLSPEHSYSA | | SGIYHQIPPT | | YDLHGYLSYI |
KSLPLNDMPE | | IFGLHDNANI | | TFAQNETFAL | | LGTIIQLQPK | | SSSAGSQGRE |
EIVEDVTQNI | | LLKVPEPINL | | QWVMAKYPVL | | YEESMNTVLV | | QEVIRYNRLL |
QVITQTLQDL | | LKALKGLVVM | | SSQLELMAAS | | LYNNTVPELW | | SAKAYPSLKP |
LSSWVMDLLQ | | RLDFLQAWIQ | | DGIPAVFWIS | | GFFFPQAFLT | | GTLQNFARKF |
VISIDTISFD | | FKVMFEAPSE | | LTQRPQVGCY | | IHGLFLEGAR | | WDPEAFQLAE |
SQPKELYTEM | | AVIWLLPTPN | | RKAQDQDFYL | | CPIYKTLTRA | | GTLSTTGHST |
NYVIAVEIPT | | HQPQRHWIKR | | GVALICALDY |
Кодований геном білок за функцією належить до білкових моторів.
Задіяний у такому біологічному процесі, як альтернативний сплайсинг.
Білок має сайт для зв'язування з АТФ, нуклеотидами.
Локалізований у цитоплазмі, цитоскелеті, клітинних відростках, війках.
Література
- Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. (2000). Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 7: 65—73. PMID 10718198 DOI:10.1093/dnares/7.1.65
Примітки
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