Небулін
білок-кодуючий ген Homo Sapiens
NEB (англ. Nebulin) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 2-ї хромосоми. [4] Довжина поліпептидного ланцюга білка становить 6 669 амінокислот, а молекулярна маса — 772 914[5].
Послідовність амінокислот
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MADDEDYEEV | VEYYTEEVVY | EEVPGETITK | IYETTTTRTS | DYEQSETSKP | ||||
| ALAQPALAQP | ASAKPVERRK | VIRKKVDPSK | FMTPYIAHSQ | KMQDLFSPNK | ||||
| YKEKFEKTKG | QPYASTTDTP | ELRRIKKVQD | QLSEVKYRMD | GDVAKTICHV | ||||
| DEKAKDIEHA | KKVSQQVSKV | LYKQNWEDTK | DKYLLPPDAP | ELVQAVKNTA | ||||
| MFSKKLYTED | WEADKSLFYP | YNDSPELRRV | AQAQKALSDV | AYKKGLAEQQ | ||||
| AQFTPLADPP | DIEFAKKVTN | QVSKQKYKED | YENKIKGKWS | ETPCFEVANA | ||||
| RMNADNISTR | KYQEDFENMK | DQIYFMQTET | PEYKMNKKAG | VAASKVKYKE | ||||
| DYEKNKGKAD | YNVLPASENP | QLRQLKAAGD | ALSDKLYKEN | YEKTKAKSIN | ||||
| YCETPKFKLD | TVLQNFSSDK | KYKDSYLKDI | LGHYVGSFED | PYHSHCMKVT | ||||
| AQNSDKNYKA | EYEEDRGKGF | FPQTITQEYE | AIKKLDQCKD | HTYKVHPDKT | ||||
| KFTQVTDSPV | LLQAQVNSKQ | LSDLNYKAKH | ESEKFKCHIP | PDTPAFIQHK | ||||
| VNAYNLSDNL | YKQDWEKSKA | KKFDIKVDAI | PLLAAKANTK | NTSDVMYKKD | ||||
| YEKNKGKMIG | VLSINDDPKM | LHSLKVAKNQ | SDRLYKENYE | KTKAKSMNYC | ||||
| ETPKYQLDTQ | LKNFSEARYK | DLYVKDVLGH | YVGSMEDPYH | THCMKVAAQN | ||||
| SDKSYKAEYE | EDKGKCYFPQ | TITQEYEAIK | KLDQCKDHTY | KVHPDKTKFT | ||||
| AVTDSPVLLQ | AQLNTKQLSD | LNYKAKHEGE | KFKCHIPADA | PQFIQHRVNA | ||||
| YNLSDNVYKQ | DWEKSKAKKF | DIKVDAIPLL | AAKANTKNTS | DVMYKKDYEK | ||||
| SKGKMIGALS | INDDPKMLHS | LKTAKNQSDR | EYRKDYEKSK | TIYTAPLDML | ||||
| QVTQAKKSQA | IASDVDYKHI | LHSYSYPPDS | INVDLAKKAY | ALQSDVEYKA | ||||
| DYNSWMKGCG | WVPFGSLEME | KAKRASDILN | EKKYRQHPDT | LKFTSIEDAP | ||||
| ITVQSKINQA | QRSDIAYKAK | GEEIIHKYNL | PPDLPQFIQA | KVNAYNISEN | ||||
| MYKADLKDLS | KKGYDLRTDA | IPIRAAKAAR | QAASDVQYKK | DYEKAKGKMV | ||||
| GFQSLQDDPK | LVHYMNVAKI | QSDREYKKDY | EKTKSKYNTP | HDMFNVVAAK | ||||
| KAQDVVSNVN | YKHSLHHYTY | LPDAMDLELS | KNMMQIQSDN | VYKEDYNNWM | ||||
| KGIGWIPIGS | LDVEKVKKAG | DALNEKKYRQ | HPDTLKFTSI | VDSPVMVQAK | ||||
| QNTKQVSDIL | YKAKGEDVKH | KYTMSPDLPQ | FLQAKCNAYN | ISDVCYKRDW | ||||
| YDLIAKGNNV | LGDAIPITAA | KASRNIASDY | KYKEAYEKSK | GKHVGFRSLQ | ||||
| DDPKLVHYMN | VAKLQSDREY | KKNYENTKTS | YHTPGDMVSI | TAAKMAQDVA | ||||
| TNVNYKQPLH | HYTYLPDAMS | LEHTRNVNQI | QSDNVYKDEY | NSFLKGIGWI | ||||
| PIGSLEVEKV | KKAGDALNER | KYRQHPDTVK | FTSVPDSMGM | VLAQHNTKQL | ||||
| SDLNYKVEGE | KLKHKYTIDP | ELPQFIQAKV | NALNMSDAHY | KADWKKTIAK | ||||
| GYDLRPDAIP | IVAAKSSRNI | ASDCKYKEAY | EKAKGKQVGF | LSLQDDPKLV | ||||
| HYMNVAKIQS | DREYKKGYEA | SKTKYHTPLD | MVSVTAAKKS | QEVATNANYR | ||||
| QSYHHYTLLP | DALNVEHSRN | AMQIQSDNLY | KSDFTNWMKG | IGWVPIESLE | ||||
| VEKAKKAGEI | LSEKKYRQHP | EKLKFTYAMD | TMEQALNKSN | KLNMDKRLYT | ||||
| EKWNKDKTTI | HVMPDTPDIL | LSRVNQITMS | DKLYKAGWEE | EKKKGYDLRP | ||||
| DAIAIKAARA | SRDIASDYKY | KKAYEQAKGK | HIGFRSLEDD | PKLVHFMQVA | ||||
| KMQSDREYKK | GYEKSKTSFH | TPVDMLSVVA | AKKSQEVATN | ANYRNVIHTY | ||||
| NMLPDAMSFE | LAKNMMQIQS | DNQYKADYAD | FMKGIGWLPL | GSLEAEKNKK | ||||
| AMEIISEKKY | RQHPDTLKYS | TLMDSMNMVL | AQNNAKIMNE | HLYKQAWEAD | ||||
| KTKVHIMPDI | PQIILAKANA | INMSDKLYKL | SLEESKKKGY | DLRPDAIPIK | ||||
| AAKASRDIAS | DYKYKYNYEK | GKGKMVGFRS | LEDDPKLVHS | MQVAKMQSDR | ||||
| EYKKNYENTK | TSYHTPADML | SVTAAKDAQA | NITNTNYKHL | IHKYILLPDA | ||||
| MNIELTRNMN | RIQSDNEYKQ | DYNEWYKGLG | WSPAGSLEVE | KAKKATEYAS | ||||
| DQKYRQHPSN | FQFKKLTDSM | DMVLAKQNAH | TMNKHLYTID | WNKDKTKIHV | ||||
| MPDTPDILQA | KQNQTLYSQK | LYKLGWEEAL | KKGYDLPVDA | ISVQLAKASR | ||||
| DIASDYKYKQ | GYRKQLGHHV | GFRSLQDDPK | LVLSMNVAKM | QSEREYKKDF | ||||
| EKWKTKFSSP | VDMLGVVLAK | KCQELVSDVD | YKNYLHQWTC | LPDQNDVVQA | ||||
| KKVYELQSEN | LYKSDLEWLR | GIGWSPLGSL | EAEKNKRASE | IISEKKYRQP | ||||
| PDRNKFTSIP | DAMDIVLAKT | NAKNRSDRLY | REAWDKDKTQ | IHIMPDTPDI | ||||
| VLAKANLINT | SDKLYRMGYE | ELKRKGYDLP | VDAIPIKAAK | ASREIASEYK | ||||
| YKEGFRKQLG | HHIGARNIED | DPKMMWSMHV | AKIQSDREYK | KDFEKWKTKF | ||||
| SSPVDMLGVV | LAKKCQTLVS | DVDYKNYLHQ | WTCLPDQSDV | IHARQAYDLQ | ||||
| SDNLYKSDLQ | WLKGIGWMTS | GSLEDEKNKR | ATQILSDHVY | RQHPDQFKFS | ||||
| SLMDSIPMVL | AKNNAITMNH | RLYTEAWDKD | KTTVHIMPDT | PEVLLAKQNK | ||||
| VNYSEKLYKL | GLEEAKRKGY | DMRVDAIPIK | AAKASRDIAS | EFKYKEGYRK | ||||
| QLGHHIGARA | IRDDPKMMWS | MHVAKIQSDR | EYKKDFEKWK | TKFSSPVDML | ||||
| GVVLAKKCQT | LVSDVDYKNY | LHQWTCLPDQ | SDVIHARQAY | DLQSDNMYKS | ||||
| DLQWMRGIGW | VSIGSLDVEK | CKRATEILSD | KIYRQPPDRF | KFTSVTDSLE | ||||
| QVLAKNNAIT | MNKRLYTEAW | DKDKTQIHIM | PDTPEIMLAR | QNKINYSETL | ||||
| YKLANEEAKK | KGYDLRSDAI | PIVAAKASRD | VISDYKYKDG | YRKQLGHHIG | ||||
| ARNIEDDPKM | MWSMHVAKIQ | SDREYKKDFE | KWKTKFSSPV | DMLGVVLAKK | ||||
| CQTLVSDVDY | KNYLHEWTCL | PDQNDVIHAR | QAYDLQSDNI | YKSDLQWLRG | ||||
| IGWVPIGSMD | VVKCKRAAEI | LSDNIYRQPP | DKLKFTSVTD | SLEQVLAKNN | ||||
| ALNMNKRLYT | EAWDKDKTQV | HIMPDTPEIM | LARQNKINYS | ESLYRQAMEE | ||||
| AKKEGYDLRS | DAIPIVAAKA | SRDIASDYKY | KEAYRKQLGH | HIGARAVHDD | ||||
| PKIMWSLHIA | KVQSDREYKK | DFEKYKTRYS | SPVDMLGIVL | AKKCQTLVSD | ||||
| VDYKHPLHEW | ICLPDQNDII | HARKAYDLQS | DNLYKSDLEW | MKGIGWVPID | ||||
| SLEVVRAKRA | GELLSDTIYR | QRPETLKFTS | ITDTPEQVLA | KNNALNMNKR | ||||
| LYTEAWDNDK | KTIHVMPDTP | EIMLAKLNRI | NYSDKLYKLA | LEESKKEGYD | ||||
| LRLDAIPIQA | AKASRDIASD | YKYKEGYRKQ | LGHHIGARNI | KDDPKMMWSI | ||||
| HVAKIQSDRE | YKKEFEKWKT | KFSSPVDMLG | VVLAKKCQIL | VSDIDYKHPL | ||||
| HEWTCLPDQN | DVIQARKAYD | LQSDAIYKSD | LEWLRGIGWV | PIGSVEVEKV | ||||
| KRAGEILSDR | KYRQPADQLK | FTCITDTPEI | VLAKNNALTM | SKHLYTEAWD | ||||
| ADKTSIHVMP | DTPDILLAKS | NSANISQKLY | TKGWDESKMK | DYDLRADAIS | ||||
| IKSAKASRDI | ASDYKYKEAY | EKQKGHHIGA | QSIEDDPKIM | CAIHAGKIQS | ||||
| EREYKKEFQK | WKTKFSSPVD | MLSILLAKKC | QTLVTDIDYR | NYLHEWTCMP | ||||
| DQNDIIQAKK | AYDLQSDALY | KADLEWLRGI | GWMPQGSPEV | LRVKNAQNIF | ||||
| CDSVYRTPVV | NLKYTSIVDT | PEVVLAKSNA | ENISIPKYRE | VWDKDKTSIH | ||||
| IMPDTPEINL | ARANALNVSN | KLYREGWDEM | KAGCDVRLDA | IPIQAAKASR | ||||
| EIASDYKYKL | DHEKQKGHYV | GTLTARDDNK | IRWALIADKL | QNEREYRLDW | ||||
| AKWKAKIQSP | VDMLSILHSK | NSQALVSDMD | YRNYLHQWTC | MPDQNDVIQA | ||||
| KKAYELQSDN | VYKADLEWLR | GIGWMPNDSV | SVNHAKHAAD | IFSEKKYRTK | ||||
| IETLNFTPVD | DRVDYVTAKQ | SGEILDDIKY | RKDWNATKSK | YTLTETPLLH | ||||
| TAQEAARILD | QYLYKEGWER | QKATGYILPP | DAVPFVHAHH | CNDVQSELKY | ||||
| KAEHVKQKGH | YVGVPTMRDD | PKLVWFEHAG | QIQNERLYKE | DYHKTKAKIN | ||||
| IPADMVSVLA | AKQGQTLVSD | IDYRNYLHQW | MCHPDQNDVI | QARKAYDLQS | ||||
| DNVYRADLEW | LRGIGWIPLD | SVDHVRVTKN | QEMMSQIKYK | KNALENYPNF | ||||
| RSVVDPPEIV | LAKINSVNQS | DVKYKETFNK | AKGKYTFSPD | TPHISHSKDM | ||||
| GKLYSTILYK | GAWEGTKAYG | YTLDERYIPI | VGAKHADLVN | SELKYKETYE | ||||
| KQKGHYLAGK | VIGEFPGVVH | CLDFQKMRSA | LNYRKHYEDT | KANVHIPNDM | ||||
| MNHVLAKRCQ | YILSDLEYRH | YFHQWTSLLE | EPNVIRVRNA | QEILSDNVYK | ||||
| DDLNWLKGIG | CYVWDTPQIL | HAKKSYDLQS | QLQYTAAGKE | NLQNYNLVTD | ||||
| TPLYVTAVQS | GINASEVKYK | ENYHQIKDKY | TTVLETVDYD | RTRNLKNLYS | ||||
| SNLYKEAWDR | VKATSYILPS | STLSLTHAKN | QKHLASHIKY | REEYEKFKAL | ||||
| YTLPRSVDDD | PNTARCLRVG | KLNIDRLYRS | VYEKNKMKIH | IVPDMVEMVT | ||||
| AKDSQKKVSE | IDYRLRLHEW | ICHPDLQVND | HVRKVTDQIS | DIVYKDDLNW | ||||
| LKGIGCYVWD | TPEILHAKHA | YDLRDDIKYK | AHMLKTRNDY | KLVTDTPVYV | ||||
| QAVKSGKQLS | DAVYHYDYVH | SVRGKVAPTT | KTVDLDRALH | AYKLQSSNLY | ||||
| KTSLRTLPTG | YRLPGDTPHF | KHIKDTRYMS | SYFKYKEAYE | HTKAYGYTLG | ||||
| PKDVPFVHVR | RVNNVTSERL | YRELYHKLKD | KIHTTPDTPE | IRQVKKTQEA | ||||
| VSELIYKSDF | FKMQGHMISL | PYTPQVIHCR | YVGDITSDIK | YKEDLQVLKG | ||||
| FGCFLYDTPD | MVRSRHLRKL | WSNYLYTDKA | RKMRDKYKVV | LDTPEYRKVQ | ||||
| ELKTHLSELV | YRAAGKKQKS | IFTSVPDTPD | LLRAKRGQKL | QSQYLYVELA | ||||
| TKERPHHHAG | NQTTALKHAK | DVKDMVSEKK | YKIQYEKMKD | KYTPVPDTPI | ||||
| LIRAKRAYWN | ASDLRYKETF | QKTKGKYHTV | KDALDIVYHR | KVTDDISKIK | ||||
| YKENYMSQLG | IWRSIPDRPE | HFHHRAVTDT | VSDVKYKEDL | TWLKGIGCYA | ||||
| YDTPDFTLAE | KNKTLYSKYK | YKEVFERTKS | DFKYVADSPI | NRHFKYATQL | ||||
| MNEKKYRADY | EQRKDKYHLV | VDEPRHLLAK | TAGDQISQIK | YRKNYEKSKD | ||||
| KFTSIVDTPE | HLRTTKVNKQ | ISDILYKLEY | NKAKPRGYTT | IHDTPMLLHV | ||||
| RKVKDEVSDL | KYKEVYQRNK | SNCTIEPDAV | HIKAAKDAYK | VNTNLDYKKQ | ||||
| YEANKAHWKW | TPDRPDFLQA | AKSSLQQSDF | EYKLDREFLK | GCKLSVTDDK | ||||
| NTVLALRNTL | IESDLKYKEK | HVKERGTCHA | VPDTPQILLA | KTVSNLVSEN | ||||
| KYKDHVKKHL | AQGSYTTLPE | TRDTVHVKEV | TKHVSDTNYK | KKFVKEKGKS | ||||
| NYSIMLEPPE | VKHAMEVAKK | QSDVAYRKDA | KENLHYTTVA | DRPDIKKATQ | ||||
| AAKQASEVEY | RAKHRKEGSH | GLSMLGRPDI | EMAKKAAKLS | SQVKYRENFD | ||||
| KEKGKTPKYN | PKDSQLYKVM | KDANNLASEV | KYKADLKKLH | KPVTDMKESL | ||||
| IMNHVLNTSQ | LASSYQYKKK | YEKSKGHYHT | IPDNLEQLHL | KEATELQSIV | ||||
| KYKEKYEKER | GKPMLDFETP | TYITAKESQQ | MQSGKEYRKD | YEESIKGRNL | ||||
| TGLEVTPALL | HVKYATKIAS | EKEYRKDLEE | SIRGKGLTEM | EDTPDMLRAK | ||||
| NATQILNEKE | YKRDLELEVK | GRGLNAMANE | TPDFMRARNA | TDIASQIKYK | ||||
| QSAEMEKANF | TSVVDTPEII | HAQQVKNLSS | QKKYKEDAEK | SMSYYETVLD | ||||
| TPEIQRVREN | QKNFSLLQYQ | CDLKNSKGKI | TVVQDTPEIL | RVKENQKNFS | ||||
| SVLYKEDVSP | GTAIGKTPEM | MRVKQTQDHI | SSVKYKEAIG | QGTPIPDLPE | ||||
| VKRVKETQKH | ISSVMYKENL | GTGIPTTVTP | EIERVKRNQE | NFSSVLYKEN | ||||
| LGKGIPTPIT | PEMERVKRNQ | ENFSSVLYKE | NMGKGTPLAV | TPEMERVKHN | ||||
| QENISSVLYK | ENVGKATATP | VTPEMQRVKR | NQENISSVLY | KENLGKATPT | ||||
| PFTPEMERVK | RNQENFSSVL | YKENMRKATP | TPVTPEMERA | KRNQENISSV | ||||
| LYSDSFRKQI | QGKAAYVLDT | PEMRRVRETQ | RHISTVKYHE | DFEKHKGCFT | ||||
| PVVTDPITER | VKKNMQDFSD | INYRGIQRKV | VEMEQKRNDQ | DQETITGLRV | ||||
| WRTNPGSVFD | YDPAEDNIQS | RSLHMINVQA | QRRSREQSRS | ASALSISGGE | ||||
| EKSEHSEAPD | HHLSTYSDGG | VFAVSTAYKH | AKTTELPQQR | SSSVATQQTT | ||||
| VSSIPSHPST | AGKIFRAMYD | YMAADADEVS | FKDGDAIINV | QAIDEGWMYG | ||||
| TVQRTGRTGM | LPANYVEAI |
Кодований геном білок за функцією належить до м'язових білків. Задіяний у таких біологічних процесах як поліморфізм, альтернативний сплайсинг. Білок має сайт для зв'язування з молекулою актину. Локалізований у цитоплазмі, цитоскелеті.
Література
ред.- Labeit S., Kolmerer B. (1995). The complete primary structure of human nebulin and its correlation to muscle structure. J. Mol. Biol. 248: 308—315. PMID 7739042 DOI:10.1016/S0022-2836(95)80052-2
- Ma K., Wang K. (2002). Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. FEBS Lett. 532: 273—278. PMID 12482578 DOI:10.1016/S0014-5793(02)03655-4
- Politou A.S., Millevoi S., Gautel M., Kolmerer B., Pastore A. (1998). SH3 in muscles: solution structure of the SH3 domain from nebulin. J. Mol. Biol. 276: 189—202. PMID 9514727 DOI:10.1006/jmbi.1997.1521
- Jin J.P., Wang K. (1991). Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules. J. Biol. Chem. 266: 21215—21223. PMID 1682316
Примітки
ред.- ↑ Захворювання, генетично пов'язані з NEB переглянути/редагувати посилання на ВікіДаних.
- ↑ Human PubMed Reference:.
- ↑ Mouse PubMed Reference:.
- ↑ HUGO Gene Nomenclature Commitee, HGNC:7720 (англ.) . Процитовано 28 серпня 2017.
{{cite web}}: Обслуговування CS1: Сторінки з параметром url-status, але без параметра archive-url (посилання) - ↑ UniProt, P20929 (англ.) . Архів оригіналу за 7 листопада 2016. Процитовано 28 серпня 2017.
Див. також
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