SYNE1

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SYNE1
Наявні структури
PDBПошук ортологів: PDBe RCSB
Ідентифікатори
Символи SYNE1, 8B, ARCA1, C6orf98, CPG2, EDMD4, MYNE1, Nesp1, SCAR8, dJ45H2.2, spectrin repeat containing nuclear envelope protein 1, KASH1, AMCM, AMC3
Зовнішні ІД OMIM: 608441 MGI: 1927152 HomoloGene: 52329 GeneCards: SYNE1
Пов'язані генетичні захворювання
біполярний афективний розлад, великий депресивний розлад, unipolar depression, autosomal recessive ataxia, Beauce type, autosomal dominant Emery-Dreifuss muscular dystrophy[1]
Ортологи
Види Людина Миша
Entrez
Ensembl
UniProt
RefSeq (мРНК)
NM_001079686
NM_022027
NM_153399
NM_001347711
NM_001347732
RefSeq (білок)
NP_001334630
NP_001334631
NP_149062
NP_892006
NP_001073154
NP_001334640
NP_001334661
NP_071310
NP_700448
Локус (UCSC) Хр. 6: 152.12 – 152.64 Mb Хр. 10: 5.02 – 5.55 Mb
PubMed search [2] [3]
Вікідані
Див./Ред. для людейДив./Ред. для мишей

SYNE1 (англ. Spectrin repeat containing nuclear envelope protein 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 6-ї хромосоми.[4] Довжина поліпептидного ланцюга білка становить 8 797 амінокислот, а молекулярна маса — 1 011 086[5].

Послідовність амінокислот
1020304050
MATSRGASRCPRDIANVMQRLQDEQEIVQKRTFTKWINSHLAKRKPPMVV
DDLFEDMKDGVKLLALLEVLSGQKLPCEQGRRMKRIHAVANIGTALKFLE
GRKIKLVNINSTDIADGRPSIVLGLMWTIILYFQIEELTSNLPQLQSLSS
SASSVDSIVSSETPSPPSKRKVTTKIQGNAKKALLKWVQYTAGKQTGIEV
KDFGKSWRSGVAFHSVIHAIRPELVDLETVKGRSNRENLEDAFTIAETEL
GIPRLLDPEDVDVDKPDEKSIMTYVAQFLKHYPDIHNASTDGQEDDEILP
GFPSFANSVQNFKREDRVIFKEMKVWIEQFERDLTRAQMVESNLQDKYQS
FKHFRVQYEMKRKQIEHLIQPLHRDGKLSLDQALVKQSWDRVTSRLFDWH
IQLDKSLPAPLGTIGAWLYRAEVALREEITVQQVHEETANTIQRKLEQHK
DLLQNTDAHKRAFHEIYRTRSVNGIPVPPDQLEDMAERFHFVSSTSELHL
MKMEFLELKYRLLSLLVLAESKLKSWIIKYGRRESVEQLLQNYVSFIENS
KFFEQYEVTYQILKQTAEMYVKADGSVEEAENVMKFMNETTAQWRNLSVE
VRSVRSMLEEVISNWDRYGNTVASLQAWLEDAEKMLNQSENAKKDFFRNL
PHWIQQHTAMNDAGNFLIETCDEMVSRDLKQQLLLLNGRWRELFMEVKQY
AQADEMDRMKKEYTDCVVTLSAFATEAHKKLSEPLEVSFMNVKLLIQDLE
DIEQRVPVMDAQYKIITKTAHLITKESPQEEGKEMFATMSKLKEQLTKVK
ECYSPLLYESQQLLIPLEELEKQMTSFYDSLGKINEIITVLEREAQSSAL
FKQKHQELLACQENCKKTLTLIEKGSQSVQKFVTLSNVLKHFDQTRLQRQ
IADIHVAFQSMVKKTGDWKKHVETNSRLMKKFEESRAELEKVLRIAQEGL
EEKGDPEELLRRHTEFFSQLDQRVLNAFLKACDELTDILPEQEQQGLQEA
VRKLHKQWKDLQGEAPYHLLHLKIDVEKNRFLASVEECRTELDRETKLMP
QEGSEKIIKEHRVFFSDKGPHHLCEKRLQLIEELCVKLPVRDPVRDTPGT
CHVTLKELRAAIDSTYRKLMEDPDKWKDYTSRFSEFSSWISTNETQLKGI
KGEAIDTANHGEVKRAVEEIRNGVTKRGETLSWLKSRLKVLTEVSSENEA
QKQGDELAKLSSSFKALVTLLSEVEKMLSNFGDCVQYKEIVKNSLEELIS
GSKEVQEQAEKILDTENLFEAQQLLLHHQQKTKRISAKKRDVQQQIAQAQ
QGEGGLPDRGHEELRKLESTLDGLERSRERQERRIQVTLRKWERFETNKE
TVVRYLFQTGSSHERFLSFSSLESLSSELEQTKEFSKRTESIAVQAENLV
KEASEIPLGPQNKQLLQQQAKSIKEQVKKLEDTLEEDIKTMEMVKTKWDH
FGSNFETLSVWITEKEKELNALETSSSAMDMQISQIKVTIQEIESKLSSI
VGLEEEAQSFAQFVTTGESARIKAKLTQIRRYGEELREHAQCLEGTILGH
LSQQQKFEENLRKIQQSVSEFEDKLAVPIKICSSATETYKVLQEHMDLCQ
ALESLSSAITAFSASARKVVNRDSCVQEAAALQQQYEDILRRAKERQTAL
ENLLAHWQRLEKELSSFLTWLERGEAKASSPEMDISADRVKVEGELQLIQ
ALQNEVVSQASFYSKLLQLKESLFSVASKDDVKMMKLHLEQLDERWRDLP
QIINKRINFLQSVVAEHQQFDELLLSFSVWIKLFLSELQTTSEISIMDHQ
VALTRHKDHAAEVESKKGELQSLQGHLAKLGSLGRAEDLHLLQGKAEDCF
QLFEEASQVVERRQLALSHLAEFLQSHASLSGILRQLRQTVEATNSMNKN
ESDLIEKDLNDALQNAKALESAAVSLDGILSKAQYHLKIGSSEQRTSCRA
TADQLCGEVERIQNLLGTKQSEADALAVLKKAFQDQKEELLKSIEDIEER
TDKERLKEPTRQALQQRLRVFNQLEDELNSHEHELCWLKDKAKQIAQKDV
AFAPEVDREINRLEVTWDDTKRLIHENQGQCCGLIDLMREYQNLKSAVSK
VLENASSVIVTRTTIKDQEDLKWAFSKHETAKNKMNYKQKDLDNFTSKGK
HLLSELKKIHSSDFSLVKTDMESTVDKWLDVSEKLEENMDRLRVSLSIWD
DVLSTRDEIEGWSNNCVPQMAENISNLDNHLRAEELLKEFESEVKNKALR
LEELHSKVNDLKELTKNLETPPDLQFIEADLMQKLEHAKEITEVAKGTLK
DFTAQSTQVEKFINDITTWFTKVEESLMNCAQNETCEALKKVKDIQKELQ
SQQSNISSTQENLNSLCRKYHSAELESLGRAMTGLIKKHEAVSQLCSKTQ
ASLQESLEKHFSESMQEFQEWFLGAKAAAKESSDRTGDSKVLEAKLHDLQ
NILDSVSDGQSKLDAVTQEGQTLYAHLSKQIVSSIQEQITKANEEFQAFL
KQCLKDKQALQDCASELGSFEDQHRKLNLWIHEMEERFNTENLGESKQHI
PEKKNEVHKVEMFLGELLAARESLDKLSQRGQLLSEEGHGAGQEGRLCSQ
LLTSHQNLLRMTKEKLRSCQVALQEHEALEEALQSMWFWVKAIQDRLACA
ESTLGSKDTLEKRLSQIQDILLMKGEGEVKLNMAIGKGEQALRSSNKEGQ
RVIQTQLETLKEVWADIMSSSVHAQSTLESVISQWNDYVERKNQLEQWME
SVDQKIEHPLQPQPGLKEKFVLLDHLQSILSEAEDHTRALHRLIAKSREL
YEKTEDESFKDTAQEELKTQFNDIMTVAKEKMRKVEEIVKDHLMYLDAVH
EFTDWLHSAKEELHRWSDMSGDSSATQKKLSKIKELIDSREIGASRLSRV
ESLAPEVKQNTTASGCELMHTEMQALRADWKQWEDSVFQTQSCLENLVSQ
MALSEQEFSGQVAQLEQALEQFSALLKTWAQQLTLLEGKNTDEEIVECWH
KGQEILDALQKAEPRTEDLKSQLNELCRFSRDLSTYSGKVSGLIKEYNCL
CLQASKGCQNKEQILQQRFRKAFRDFQQWLVNAKITTAKCFDIPQNISEV
STSLQKIQEFLSESENGQHKLNMMLSKGELLSTLLTKEKAKGIQAKVTAA
KEDWKNFHSNLHQKESALENLKIQMKDFEVSAEPIQDWLSKTEKMVHESS
NRLYDLPAKRREQQKLQSVLEEIHCYEPQLNRLKEKAQQLWEGQAASKSF
RHRVSQLSSQYLALSNLTKEKVSRLDRIVAEHNQFSLGIKELQDWMTDAI
HMLDSYCHPTSDKSVLDSRTLKLEALLSVKQEKEIQMKMIVTRGESVLQN
TSPEGIPTIQQQLQSVKDMWASLLSAGIRCKSQLEGALSKWTSYQDGVRQ
FSGWMDSMEANLNESERQHAELRDKTTMLGKAKLLNEEVLSYSSLLETIE
VKGAGMTEHYVTQLELQDLQERYRAIQERAKEAVTKSEKLVRLHQEYQRD
LKAFEVWLGQEQEKLDQYSVLEGDAHTHETTLRDLQELQVHCAEGQALLN
SVLHTREDVIPSGIPQAEDRALESLRQDWQAYQHRLSETRTQFNNVVNKL
RLMEQKFQQVDEWLKTAEEKVSPRTRRQSNRATKEIQLHQMKKWHEEVTA
YRDEVEEVGARAQEILDESHVNSRMGCQATQLTSRYQALLLQVLEQIKFL
EEEIQSLEESESSLSSYSDWYGSTHKNFKNVATKIDKVDTVMMGKKLKTL
EVLLKDMEKGHSLLKSAREKGERAVKYLEEGEAERLRKEIHDHMEQLKEL
TSTVRKEHMTLEKGLHLAKEFSDKCKALTQWIAEYQEILHVPEEPKMELY
EKKAQLSKYKSLQQTVLSHEPSVKSVREKGEALLELVQDVTLKDKIDQLQ
SDYQDLCSIGKEHVFSLEAKVKDHEDYNSELQEVEKWLLQMSGRLVAPDL
LETSSLETITQQLAHHKAMMEEIAGFEDRLNNLQMKGDTLIGQCADHLQA
KLKQNVHAHLQGTKDSYSAICSTAQRMYQSLEHELQKHVSRQDTLQQCQA
WLSAVQPDLEPSPQPPLSRAEAIKQVKHFRALQEQARTYLDLLCSMCDLS
NASVKTTAKDIQQTEQTIEQKLVQAQNLTQGWEEIKHLKSELWIYLQDAD
QQLQNMKRRHSELELNIAQNMVSQVKDFVKKLQSKQASVNTIIEKVNKLT
KKEESPEHKEINHLNDQWLDLCRQSNNLCLQREEDLQRTRDYHDCMNVVE
VFLEKFTTEWDNLARSDAESTAVHLEALKKLALALQERKYAIEDLKDQKQ
KMIEHLNLDDKELVKEQTSHLEQRWFQLEDLIKRKIQVSVTNLEELNVVQ
SRFQELMEWAEEQQPNIAEALKQSPPPDMAQNLLMDHLAICSELEAKQML
LKSLIKDADRVMADLGLNERQVIQKALSDAQSHVNCLSDLVGQRRKYLNK
ALSEKTQFLMAVFQATSQIQQHERKIMFREHICLLPDDVSKQVKTCKSAQ
ASLKTYQNEVTGLWAQGRELMKEVTEQEKSEVLGKLQELQSVYDSVLQKC
SHRLQELEKNLVSRKHFKEDFDKACHWLKQADIVTFPEINLMNESSELHT
QLAKYQNILEQSPEYENLLLTLQRTGQTILPSLNEVDHSYLSEKLNALPR
QFNVIVALAKDKFYKVQEAILARKEYASLIELTTQSLSELEAQFLRMSKV
PTDLAVEEALSLQDGCRAILDEVAGLGEAVDELNQKKEGFRSTGQPWQPD
KMLHLVTLYHRLKRQTEQRVSLLEDTTSAYQEHEKMCQQLERQLKSVKEE
QSKVNEETLPAEEKLKMYHSLAGSLQDSGIVLKRVTIHLEDLAPHLDPLA
YEKARHQIQSWQGELKLLTSAIGETVTECESRMVQSIDFQTEMSRSLDWL
RRVKAELSGPVYLDLNLQDIQEEIRKIQIHQEEVQSSLRIMNALSHKEKE
KFTKAKELISADLEHSLAELSELDGDIQEALRTRQATLTEIYSQCQRYYQ
VFQAANDWLEDAQELLQLAGNGLDVESAEENLKSHMEFFSTEDQFHSNLE
ELHSLVATLDPLIKPTGKEDLEQKVASLELRSQRMSRDSGAQVDLLQRCT
AQWHDYQKAREEVIELMNDTEKKLSEFSLLKTSSSHEAEEKLSEHKALVS
VVNSFHEKIVALEEKASQLEKTGNDASKATLSRSMTTVWQRWTRLRAVAQ
DQEKILEDAVDEWTGFNNKVKKATEMIDQLQDKLPGSSAEKASKAELLTL
LEYHDTFVLELEQQQSALGMLRQQTLSMLQDGAAPTPGEEPPLMQEITAM
QDRCLNMQEKVKTNGKLVKQELKDREMVETQINSVKCWVQETKEYLGNPT
IEIDAQLEELQILLTEATNHRQNIEKMAEEQKEKYLGLYTILPSELSLQL
AEVALDLKIRDQIQDKIKEVEQSKATSQELSRQIQKLAKDLTTILTKLKA
KTDNVVQAKTDQKVLGEELDGCNSKLMELDAAVQKFLEQNGQLGKPLAKK
IGKLTELHQQTIRQAENRLSKLNQAASHLEEYNEMLELILKWIEKAKVLA
HGTIAWNSASQLREQYILHQTLLEESKEIDSELEAMTEKLQYLTSVYCTE
KMSQQVAELGRETEELRQMIKIRLQNLQDAAKDMKKFEAELKKLQAALEQ
AQATLTSPEVGRLSLKEQLSHRQHLLSEMESLKPKVQAVQLCQSALRIPE
DVVASLPLCHAALRLQEEASRLQHTAIQQCNIMQEAVVQYEQYEQEMKHL
QQLIEGAHREIEDKPVATSNIQELQAQISRHEELAQKIKGYQEQIASLNS
KCKMLTMKAKHATMLLTVTEVEGLAEGTEDLDGELLPTPSAHPSVVMMTA
GRCHTLLSPVTEESGEEGTNSEISSPPACRSPSPVANTDASVNQDIAYYQ
ALSAERLQTDAAKIHPSTSASQEFYEPGLEPSATAKLGDLQRSWETLKNV
ISEKQRTLYEALERQQKYQDSLQSISTKMEAIELKLSESPEPGRSPESQM
AEHQALMDEILMLQDEINELQSSLAEELVSESCEADPAEQLALQSTLTVL
AERMSTIRMKASGKRQLLEEKLNDQLEEQRQEQALQRYRCEADELDSWLL
STKATLDTALSPPKEPMDMEAQLMDCQNMLVEIEQKVVALSELSVHNENL
LLEGKAHTKDEAEQLAGKLRRLKGSLLELQRALHDKQLNMQGTAQEKEES
DVDLTATQSPGVQEWLAQARTTWTQQRQSSLQQQKELEQELAEQKSLLRS
VASRGEEILIQHSAAETSGDAGEKPDVLSQELGMEGEKSSAEDQMRMKWE
SLHQEFSTKQKLLQNVLEQEQEQVLYSRPNRLLSGVPLYKGDVPTQDKSA
VTSLLDGLNQAFEEVSSQSGGAKRQSIHLEQKLYDGVSATSTWLDDVEER
LFVATALLPEETETCLFNQEILAKDIKEMSEEMDKNKNLFSQAFPENGDN
RDVIEDTLGCLLGRLSLLDSVVNQRCHQMKERLQQILNFQNDLKVLFTSL
ADNKYIILQKLANVFEQPVAEQIEAIQQAEDGLKEFDAGIIELKRRGDKL
QVEQPSMQELSKLQDMYDELMMIIGSRRSGLNQNLTLKSQYERALQDLAD
LLETGQEKMAGDQKIIVSSKEEIQQLLDKHKEYFQGLESHMILTETLFRK
IISFAVQKETQFHTELMAQASAVLKRAHKRGVELEYILETWSHLDEDQQE
LSRQLEVVESSIPSVGLVEENEDRLIDRITLYQHLKSSLNEYQPKLYQVL
DDGKRLLISISCSDLESQLNQLGECWLSNTNKMSKELHRLETILKHWTRY
QSESADLIHWLQSAKDRLEFWTQQSVTVPQELEMVRDHLNAFLEFSKEVD
AQSSLKSSVLSTGNQLLRLKKVDTATLRSELSRIDSQWTDLLTNIPAVQE
KLHQLQMDKLPSRHAISEVMSWISLMENVIQKDEDNIKNSIGYKAIHEYL
QKYKGFKIDINCKQLTVDFVNQSVLQISSQDVESKRSDKTDFAEQLGAMN
KSWQILQGLVTEKIQLLEGLLESWSEYENNVQCLKTWFETQEKRLKQQHR
IGDQASVQNALKDCQDLEDLIKAKEKEVEKIEQNGLALIQNKKEDVSSIV
MSTLRELGQTWANLDHMVGQLKILLKSVLDQWSSHKVAFDKINSYLMEAR
YSLSRFRLLTGSLEAVQVQVDNLQNLQDDLEKQERSLQKFGSITNQLLKE
CHPPVTETLTNTLKEVNMRWNNLLEEIAEQLQSSKALLQLWQRYKDYSKQ
CASTVQQQEDRTNELLKAATNKDIADDEVATWIQDCNDLLKGLGTVKDSL
FFLHELGEQLKQQVDASAASAIQSDQLSLSQHLCALEQALCKQQTSLQAG
VLDYETFAKSLEALEAWIVEAEEILQGQDPSHSSDLSTIQERMEELKGQM
LKFSSMAPDLDRLNELGYRLPLNDKEIKRMQNLNRHWSLISSQTTERFSK
LQSFLLQHQTFLEKCETWMEFLVQTEQKLAVEISGNYQHLLEQQRAHELF
QAEMFSRQQILHSIIIDGQRLLEQGQVDDRDEFNLKLTLLSNQWQGVIRR
AQQRRGIIDSQIRQWQRYREMAEKLRKWLVEVSYLPMSGLGSVPIPLQQA
RTLFDEVQFKEKVFLRQQGSYILTVEAGKQLLLSADSGAEAALQAELAEI
QEKWKSASMRLEEQKKKLAFLLKDWEKCEKGIADSLEKLRTFKKKLSQSL
PDHHEELHAEQMRCKELENAVGSWTDDLTQLSLLKDTLSAYISADDISIL
NERVELLQRQWEELCHQLSLRRQQIGERLNEWAVFSEKNKELCEWLTQME
SKVSQNGDILIEEMIEKLKKDYQEEIAIAQENKIQLQQMGERLAKASHES
KASEIEYKLGKVNDRWQHLLDLIAARVKKLKETLVAVQQLDKNMSSLRTW
LAHIESELAKPIVYDSCNSEEIQRKLNEQQELQRDIEKHSTGVASVLNLC
EVLLHDCDACATDAECDSIQQATRNLDRRWRNICAMSMERRLKIEETWRL
WQKFLDDYSRFEDWLKSSERTAAFPSSSGVIYTVAKEELKKFEAFQRQVH
ECLTQLELINKQYRRLARENRTDSACSLKQMVHEGNQRWDNLQKRVTSIL
RRLKHFIGQREEFETARDSILVWLTEMDLQLTNIEHFSECDVQAKIKQLK
AFQQEISLNHNKIEQIIAQGEQLIEKSEPLDAAIIEEELDELRRYCQEVF
GRVERYHKKLIRLPLPDDEHDLSDRELELEDSAALSDLHWHDRSADSLLS
PQPSSNLSLSLAQPLRSERSGRDTPASVDSIPLEWDHDYDLSRDLESAMS
RALPSEDEEGQDDKDFYLRGAVGLSGDHSALESQIRQLGKALDDSRFQIQ
QTENIIRSKTPTGPELDTSYKGYMKLLGECSSSIDSVKRLEHKLKEEEES
LPGFVNLHSTETQTAGVIDRWELLQAQALSKELRMKQNLQKWQQFNSDLN
SIWAWLGDTEEELEQLQRLELSTDIQTIELQIKKLKELQKAVDHRKAIIL
SINLCSPEFTQADSKESRDLQDRLSQMNGRWDRVCSLLEEWRGLLQDALM
QCQGFHEMSHGLLLMLENIDRRKNEIVPIDSNLDAEILQDHHKQLMQIKH
ELLESQLRVASLQDMSCQLLVNAEGTDCLEAKEKVHVIGNRLKLLLKEVS
RHIKELEKLLDVSSSQQDLSSWSSADELDTSGSVSPTSGRSTPNRQKTPR
GKCSLSQPGPSVSSPHSRSTKGGSDSSLSEPGPGRSGRGFLFRVLRAALP
LQLLLLLLIGLACLVPMSEEDYSCALSNNFARSFHPMLRYTNGPPPL

Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах, як диференціація клітин, сперматогенез, альтернативний сплайсинг. Білок має сайт для зв'язування з молекулою актину. Локалізований у цитоплазмі, цитоскелеті, ядрі, мембрані, апараті гольджі.

Література

  • Zhang Q., Ragnauth C., Greener M.J., Shanahan C.M., Roberts R.G. (2002). The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300. Genomics. 80: 473—481. PMID 12408964 DOI:10.1006/geno.2002.6859
  • The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
  • Gough L.L., Fan J., Chu S., Winnick S., Beck K.A. (2003). Golgi localization of Syne-1. Mol. Biol. Cell. 14: 2410—2424. PMID 12808039 DOI:10.1091/mbc.E02-07-0446
  • Stewart-Hutchinson P.J., Hale C.M., Wirtz D., Hodzic D. (2008). Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. Exp. Cell Res. 314: 1892—1905. PMID 18396275 DOI:10.1016/j.yexcr.2008.02.022
  • Sosa B.A., Rothballer A., Kutay U., Schwartz T.U. (2012). LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins. Cell. 149: 1035—1047. PMID 22632968 DOI:10.1016/j.cell.2012.03.046
  • Mislow J.M.K., Kim M.S., Davis D.B., McNally E.M. (2002). Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C. J. Cell Sci. 115: 61—70. PMID 11801724

Примітки

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