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].

NEB
Наявні структури
PDBПошук для людей: PDBe RCSB
Ідентифікатори
Символи NEB, nebulin, NEB177D, NEM2, AMC6
Зовнішні ІД OMIM: 161650 MGI: 97292 HomoloGene: 136285 GeneCards: NEB
Пов'язані генетичні захворювання
nemaline myopathy 2, nemaline myopathy[1]
Ортологи
Види Людина Миша
Entrez
Ensembl
UniProt
RefSeq (мРНК)
NM_001164507
NM_001164508
NM_001271208
NM_004543
NM_010889
RefSeq (білок)
NP_001157979
NP_001157980
NP_001258137
NP_004534
NP_004534.2
н/д
Локус (UCSC) Хр. 2: 151.49 – 151.73 Mb Хр. 2: 52.14 – 52.38 Mb
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MADDEDYEEVVEYYTEEVVYEEVPGETITKIYETTTTRTSDYEQSETSKP
ALAQPALAQPASAKPVERRKVIRKKVDPSKFMTPYIAHSQKMQDLFSPNK
YKEKFEKTKGQPYASTTDTPELRRIKKVQDQLSEVKYRMDGDVAKTICHV
DEKAKDIEHAKKVSQQVSKVLYKQNWEDTKDKYLLPPDAPELVQAVKNTA
MFSKKLYTEDWEADKSLFYPYNDSPELRRVAQAQKALSDVAYKKGLAEQQ
AQFTPLADPPDIEFAKKVTNQVSKQKYKEDYENKIKGKWSETPCFEVANA
RMNADNISTRKYQEDFENMKDQIYFMQTETPEYKMNKKAGVAASKVKYKE
DYEKNKGKADYNVLPASENPQLRQLKAAGDALSDKLYKENYEKTKAKSIN
YCETPKFKLDTVLQNFSSDKKYKDSYLKDILGHYVGSFEDPYHSHCMKVT
AQNSDKNYKAEYEEDRGKGFFPQTITQEYEAIKKLDQCKDHTYKVHPDKT
KFTQVTDSPVLLQAQVNSKQLSDLNYKAKHESEKFKCHIPPDTPAFIQHK
VNAYNLSDNLYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKD
YEKNKGKMIGVLSINDDPKMLHSLKVAKNQSDRLYKENYEKTKAKSMNYC
ETPKYQLDTQLKNFSEARYKDLYVKDVLGHYVGSMEDPYHTHCMKVAAQN
SDKSYKAEYEEDKGKCYFPQTITQEYEAIKKLDQCKDHTYKVHPDKTKFT
AVTDSPVLLQAQLNTKQLSDLNYKAKHEGEKFKCHIPADAPQFIQHRVNA
YNLSDNVYKQDWEKSKAKKFDIKVDAIPLLAAKANTKNTSDVMYKKDYEK
SKGKMIGALSINDDPKMLHSLKTAKNQSDREYRKDYEKSKTIYTAPLDML
QVTQAKKSQAIASDVDYKHILHSYSYPPDSINVDLAKKAYALQSDVEYKA
DYNSWMKGCGWVPFGSLEMEKAKRASDILNEKKYRQHPDTLKFTSIEDAP
ITVQSKINQAQRSDIAYKAKGEEIIHKYNLPPDLPQFIQAKVNAYNISEN
MYKADLKDLSKKGYDLRTDAIPIRAAKAARQAASDVQYKKDYEKAKGKMV
GFQSLQDDPKLVHYMNVAKIQSDREYKKDYEKTKSKYNTPHDMFNVVAAK
KAQDVVSNVNYKHSLHHYTYLPDAMDLELSKNMMQIQSDNVYKEDYNNWM
KGIGWIPIGSLDVEKVKKAGDALNEKKYRQHPDTLKFTSIVDSPVMVQAK
QNTKQVSDILYKAKGEDVKHKYTMSPDLPQFLQAKCNAYNISDVCYKRDW
YDLIAKGNNVLGDAIPITAAKASRNIASDYKYKEAYEKSKGKHVGFRSLQ
DDPKLVHYMNVAKLQSDREYKKNYENTKTSYHTPGDMVSITAAKMAQDVA
TNVNYKQPLHHYTYLPDAMSLEHTRNVNQIQSDNVYKDEYNSFLKGIGWI
PIGSLEVEKVKKAGDALNERKYRQHPDTVKFTSVPDSMGMVLAQHNTKQL
SDLNYKVEGEKLKHKYTIDPELPQFIQAKVNALNMSDAHYKADWKKTIAK
GYDLRPDAIPIVAAKSSRNIASDCKYKEAYEKAKGKQVGFLSLQDDPKLV
HYMNVAKIQSDREYKKGYEASKTKYHTPLDMVSVTAAKKSQEVATNANYR
QSYHHYTLLPDALNVEHSRNAMQIQSDNLYKSDFTNWMKGIGWVPIESLE
VEKAKKAGEILSEKKYRQHPEKLKFTYAMDTMEQALNKSNKLNMDKRLYT
EKWNKDKTTIHVMPDTPDILLSRVNQITMSDKLYKAGWEEEKKKGYDLRP
DAIAIKAARASRDIASDYKYKKAYEQAKGKHIGFRSLEDDPKLVHFMQVA
KMQSDREYKKGYEKSKTSFHTPVDMLSVVAAKKSQEVATNANYRNVIHTY
NMLPDAMSFELAKNMMQIQSDNQYKADYADFMKGIGWLPLGSLEAEKNKK
AMEIISEKKYRQHPDTLKYSTLMDSMNMVLAQNNAKIMNEHLYKQAWEAD
KTKVHIMPDIPQIILAKANAINMSDKLYKLSLEESKKKGYDLRPDAIPIK
AAKASRDIASDYKYKYNYEKGKGKMVGFRSLEDDPKLVHSMQVAKMQSDR
EYKKNYENTKTSYHTPADMLSVTAAKDAQANITNTNYKHLIHKYILLPDA
MNIELTRNMNRIQSDNEYKQDYNEWYKGLGWSPAGSLEVEKAKKATEYAS
DQKYRQHPSNFQFKKLTDSMDMVLAKQNAHTMNKHLYTIDWNKDKTKIHV
MPDTPDILQAKQNQTLYSQKLYKLGWEEALKKGYDLPVDAISVQLAKASR
DIASDYKYKQGYRKQLGHHVGFRSLQDDPKLVLSMNVAKMQSEREYKKDF
EKWKTKFSSPVDMLGVVLAKKCQELVSDVDYKNYLHQWTCLPDQNDVVQA
KKVYELQSENLYKSDLEWLRGIGWSPLGSLEAEKNKRASEIISEKKYRQP
PDRNKFTSIPDAMDIVLAKTNAKNRSDRLYREAWDKDKTQIHIMPDTPDI
VLAKANLINTSDKLYRMGYEELKRKGYDLPVDAIPIKAAKASREIASEYK
YKEGFRKQLGHHIGARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKF
SSPVDMLGVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQ
SDNLYKSDLQWLKGIGWMTSGSLEDEKNKRATQILSDHVYRQHPDQFKFS
SLMDSIPMVLAKNNAITMNHRLYTEAWDKDKTTVHIMPDTPEVLLAKQNK
VNYSEKLYKLGLEEAKRKGYDMRVDAIPIKAAKASRDIASEFKYKEGYRK
QLGHHIGARAIRDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDML
GVVLAKKCQTLVSDVDYKNYLHQWTCLPDQSDVIHARQAYDLQSDNMYKS
DLQWMRGIGWVSIGSLDVEKCKRATEILSDKIYRQPPDRFKFTSVTDSLE
QVLAKNNAITMNKRLYTEAWDKDKTQIHIMPDTPEIMLARQNKINYSETL
YKLANEEAKKKGYDLRSDAIPIVAAKASRDVISDYKYKDGYRKQLGHHIG
ARNIEDDPKMMWSMHVAKIQSDREYKKDFEKWKTKFSSPVDMLGVVLAKK
CQTLVSDVDYKNYLHEWTCLPDQNDVIHARQAYDLQSDNIYKSDLQWLRG
IGWVPIGSMDVVKCKRAAEILSDNIYRQPPDKLKFTSVTDSLEQVLAKNN
ALNMNKRLYTEAWDKDKTQVHIMPDTPEIMLARQNKINYSESLYRQAMEE
AKKEGYDLRSDAIPIVAAKASRDIASDYKYKEAYRKQLGHHIGARAVHDD
PKIMWSLHIAKVQSDREYKKDFEKYKTRYSSPVDMLGIVLAKKCQTLVSD
VDYKHPLHEWICLPDQNDIIHARKAYDLQSDNLYKSDLEWMKGIGWVPID
SLEVVRAKRAGELLSDTIYRQRPETLKFTSITDTPEQVLAKNNALNMNKR
LYTEAWDNDKKTIHVMPDTPEIMLAKLNRINYSDKLYKLALEESKKEGYD
LRLDAIPIQAAKASRDIASDYKYKEGYRKQLGHHIGARNIKDDPKMMWSI
HVAKIQSDREYKKEFEKWKTKFSSPVDMLGVVLAKKCQILVSDIDYKHPL
HEWTCLPDQNDVIQARKAYDLQSDAIYKSDLEWLRGIGWVPIGSVEVEKV
KRAGEILSDRKYRQPADQLKFTCITDTPEIVLAKNNALTMSKHLYTEAWD
ADKTSIHVMPDTPDILLAKSNSANISQKLYTKGWDESKMKDYDLRADAIS
IKSAKASRDIASDYKYKEAYEKQKGHHIGAQSIEDDPKIMCAIHAGKIQS
EREYKKEFQKWKTKFSSPVDMLSILLAKKCQTLVTDIDYRNYLHEWTCMP
DQNDIIQAKKAYDLQSDALYKADLEWLRGIGWMPQGSPEVLRVKNAQNIF
CDSVYRTPVVNLKYTSIVDTPEVVLAKSNAENISIPKYREVWDKDKTSIH
IMPDTPEINLARANALNVSNKLYREGWDEMKAGCDVRLDAIPIQAAKASR
EIASDYKYKLDHEKQKGHYVGTLTARDDNKIRWALIADKLQNEREYRLDW
AKWKAKIQSPVDMLSILHSKNSQALVSDMDYRNYLHQWTCMPDQNDVIQA
KKAYELQSDNVYKADLEWLRGIGWMPNDSVSVNHAKHAADIFSEKKYRTK
IETLNFTPVDDRVDYVTAKQSGEILDDIKYRKDWNATKSKYTLTETPLLH
TAQEAARILDQYLYKEGWERQKATGYILPPDAVPFVHAHHCNDVQSELKY
KAEHVKQKGHYVGVPTMRDDPKLVWFEHAGQIQNERLYKEDYHKTKAKIN
IPADMVSVLAAKQGQTLVSDIDYRNYLHQWMCHPDQNDVIQARKAYDLQS
DNVYRADLEWLRGIGWIPLDSVDHVRVTKNQEMMSQIKYKKNALENYPNF
RSVVDPPEIVLAKINSVNQSDVKYKETFNKAKGKYTFSPDTPHISHSKDM
GKLYSTILYKGAWEGTKAYGYTLDERYIPIVGAKHADLVNSELKYKETYE
KQKGHYLAGKVIGEFPGVVHCLDFQKMRSALNYRKHYEDTKANVHIPNDM
MNHVLAKRCQYILSDLEYRHYFHQWTSLLEEPNVIRVRNAQEILSDNVYK
DDLNWLKGIGCYVWDTPQILHAKKSYDLQSQLQYTAAGKENLQNYNLVTD
TPLYVTAVQSGINASEVKYKENYHQIKDKYTTVLETVDYDRTRNLKNLYS
SNLYKEAWDRVKATSYILPSSTLSLTHAKNQKHLASHIKYREEYEKFKAL
YTLPRSVDDDPNTARCLRVGKLNIDRLYRSVYEKNKMKIHIVPDMVEMVT
AKDSQKKVSEIDYRLRLHEWICHPDLQVNDHVRKVTDQISDIVYKDDLNW
LKGIGCYVWDTPEILHAKHAYDLRDDIKYKAHMLKTRNDYKLVTDTPVYV
QAVKSGKQLSDAVYHYDYVHSVRGKVAPTTKTVDLDRALHAYKLQSSNLY
KTSLRTLPTGYRLPGDTPHFKHIKDTRYMSSYFKYKEAYEHTKAYGYTLG
PKDVPFVHVRRVNNVTSERLYRELYHKLKDKIHTTPDTPEIRQVKKTQEA
VSELIYKSDFFKMQGHMISLPYTPQVIHCRYVGDITSDIKYKEDLQVLKG
FGCFLYDTPDMVRSRHLRKLWSNYLYTDKARKMRDKYKVVLDTPEYRKVQ
ELKTHLSELVYRAAGKKQKSIFTSVPDTPDLLRAKRGQKLQSQYLYVELA
TKERPHHHAGNQTTALKHAKDVKDMVSEKKYKIQYEKMKDKYTPVPDTPI
LIRAKRAYWNASDLRYKETFQKTKGKYHTVKDALDIVYHRKVTDDISKIK
YKENYMSQLGIWRSIPDRPEHFHHRAVTDTVSDVKYKEDLTWLKGIGCYA
YDTPDFTLAEKNKTLYSKYKYKEVFERTKSDFKYVADSPINRHFKYATQL
MNEKKYRADYEQRKDKYHLVVDEPRHLLAKTAGDQISQIKYRKNYEKSKD
KFTSIVDTPEHLRTTKVNKQISDILYKLEYNKAKPRGYTTIHDTPMLLHV
RKVKDEVSDLKYKEVYQRNKSNCTIEPDAVHIKAAKDAYKVNTNLDYKKQ
YEANKAHWKWTPDRPDFLQAAKSSLQQSDFEYKLDREFLKGCKLSVTDDK
NTVLALRNTLIESDLKYKEKHVKERGTCHAVPDTPQILLAKTVSNLVSEN
KYKDHVKKHLAQGSYTTLPETRDTVHVKEVTKHVSDTNYKKKFVKEKGKS
NYSIMLEPPEVKHAMEVAKKQSDVAYRKDAKENLHYTTVADRPDIKKATQ
AAKQASEVEYRAKHRKEGSHGLSMLGRPDIEMAKKAAKLSSQVKYRENFD
KEKGKTPKYNPKDSQLYKVMKDANNLASEVKYKADLKKLHKPVTDMKESL
IMNHVLNTSQLASSYQYKKKYEKSKGHYHTIPDNLEQLHLKEATELQSIV
KYKEKYEKERGKPMLDFETPTYITAKESQQMQSGKEYRKDYEESIKGRNL
TGLEVTPALLHVKYATKIASEKEYRKDLEESIRGKGLTEMEDTPDMLRAK
NATQILNEKEYKRDLELEVKGRGLNAMANETPDFMRARNATDIASQIKYK
QSAEMEKANFTSVVDTPEIIHAQQVKNLSSQKKYKEDAEKSMSYYETVLD
TPEIQRVRENQKNFSLLQYQCDLKNSKGKITVVQDTPEILRVKENQKNFS
SVLYKEDVSPGTAIGKTPEMMRVKQTQDHISSVKYKEAIGQGTPIPDLPE
VKRVKETQKHISSVMYKENLGTGIPTTVTPEIERVKRNQENFSSVLYKEN
LGKGIPTPITPEMERVKRNQENFSSVLYKENMGKGTPLAVTPEMERVKHN
QENISSVLYKENVGKATATPVTPEMQRVKRNQENISSVLYKENLGKATPT
PFTPEMERVKRNQENFSSVLYKENMRKATPTPVTPEMERAKRNQENISSV
LYSDSFRKQIQGKAAYVLDTPEMRRVRETQRHISTVKYHEDFEKHKGCFT
PVVTDPITERVKKNMQDFSDINYRGIQRKVVEMEQKRNDQDQETITGLRV
WRTNPGSVFDYDPAEDNIQSRSLHMINVQAQRRSREQSRSASALSISGGE
EKSEHSEAPDHHLSTYSDGGVFAVSTAYKHAKTTELPQQRSSSVATQQTT
VSSIPSHPSTAGKIFRAMYDYMAADADEVSFKDGDAIINVQAIDEGWMYG
TVQRTGRTGMLPANYVEAI

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

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Див. також

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