RYR3
RYR3 (англ. Ryanodine receptor 3) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 15-ї хромосоми.[5] Довжина поліпептидного ланцюга білка становить 4 870 амінокислот, а молекулярна маса — 552 042[6].
Послідовність амінокислот
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MAEGGEGGED | EIQFLRTEDE | VVLQCIATIH | KEQRKFCLAA | EGLGNRLCFL | ||||
| EPTSEAKYIP | PDLCVCNFVL | EQSLSVRALQ | EMLANTGENG | GEGAAQGGGH | ||||
| RTLLYGHAVL | LRHSFSGMYL | TCLTTSRSQT | DKLAFDVGLR | EHATGEACWW | ||||
| TIHPASKQRS | EGEKVRIGDD | LILVSVSSER | YLHLSVSNGN | IQVDASFMQT | ||||
| LWNVHPTCSG | SSIEEGYLLG | GHVVRLFHGH | DECLTIPSTD | QNDSQHRRIF | ||||
| YEAGGAGTRA | RSLWRVEPLR | ISWSGSNIRW | GQAFRLRHLT | TGHYLALTED | ||||
| QGLILQDRAK | SDTKSTAFSF | RASKELKEKL | DSSHKRDIEG | MGVPEIKYGD | ||||
| SVCFVQHIAS | GLWVTYKAQD | AKTSRLGPLK | RKVILHQEGH | MDDGLTLQRC | ||||
| QREESQAARI | IRNTTALFSQ | FVSGNNRTAA | PITLPIEEVL | QTLQDLIAYF | ||||
| QPPEEEMRHE | DKQNKLRSLK | NRQNLFKEEG | MLALVLNCID | RLNVYNSVAH | ||||
| FAGIAREESG | MAWKEILNLL | YKLLAALIRG | NRNNCAQFSN | NLDWLISKLD | ||||
| RLESSSGILE | VLHCILTESP | EALNLIAEGH | IKSIISLLDK | HGRNHKVLDI | ||||
| LCSLCLCNGV | AVRANQNLIC | DNLLPRRNLL | LQTRLINDVT | SIRPNIFLGV | ||||
| AEGSAQYKKW | YFELIIDQVD | PFLTAEPTHL | RVGWASSSGY | APYPGGGEGW | ||||
| GGNGVGDDLY | SYGFDGLHLW | SGRIPRAVAS | INQHLLRSDD | VVSCCLDLGV | ||||
| PSISFRINGQ | PVQGMFENFN | TDGLFFPVMS | FSAGVKVRFL | MGGRHGEFKF | ||||
| LPPSGYAPCY | EALLPKEKMR | LEPVKEYKRD | ADGIRDLLGT | TQFLSQASFI | ||||
| PCPVDTSQVI | LPPHLEKIRD | RLAENIHELW | GMNKIELGWT | FGKIRDDNKR | ||||
| QHPCLVEFSK | LPETEKNYNL | QMSTETLKTL | LALGCHIAHV | NPAAEEDLKK | ||||
| VKLPKNYMMS | NGYKPAPLDL | SDVKLLPPQE | ILVDKLAENA | HNVWAKDRIK | ||||
| QGWTYGIQQD | LKNKRNPRLV | PYALLDERTK | KSNRDSLREA | VRTFVGYGYN | ||||
| IEPSDQELAD | SAVEKVSIDK | IRFFRVERSY | AVRSGKWYFE | FEVVTGGDMR | ||||
| VGWARPGCRP | DVELGADDQA | FVFEGNRGQR | WHQGSGYFGR | TWQPGDVVGC | ||||
| MINLDDASMI | FTLNGELLIT | NKGSELAFAD | YEIENGFVPI | CCLGLSQIGR | ||||
| MNLGTDASTF | KFYTMCGLQE | GFEPFAVNMN | RDVAMWFSKR | LPTFVNVPKD | ||||
| HPHIEVMRID | GTMDSPPCLK | VTHKTFGTQN | SNADMIYCRL | SMPVECHSSF | ||||
| SHSPCLDSEA | FQKRKQMQEI | LSHTTTQCYY | AIRIFAGQDP | SCVWVGWVTP | ||||
| DYHLYSEKFD | LNKNCTVTVT | LGDERGRVHE | SVKRSNCYMV | WGGDIVASSQ | ||||
| RSNRSNVDLE | IGCLVDLAMG | MLSFSANGKE | LGTCYQVEPN | TKVFPAVFLQ | ||||
| PTSTSLFQFE | LGKLKNAMPL | SAAIFRSEEK | NPVPQCPPRL | DVQTIQPVLW | ||||
| SRMPNSFLKV | ETERVSERHG | WVVQCLEPLQ | MMALHIPEEN | RCVDILELCE | ||||
| QEDLMRFHYH | TLRLYSAVCA | LGNSRVAYAL | CSHVDLSQLF | YAIDNKYLPG | ||||
| LLRSGFYDLL | ISIHLASAKE | RKLMMKNEYI | IPITSTTRNI | RLFPDESKRH | ||||
| GLPGVGLRTC | LKPGFRFSTP | CFVVTGEDHQ | KQSPEIPLES | LRTKALSMLT | ||||
| EAVQCSGAHI | RDPVGGSVEF | QFVPVLKLIG | TLLVMGVFDD | DDVRQILLLI | ||||
| DPSVFGEHSA | GTEEGAEKEE | VTQVEEKAVE | AGEKAGKEAP | VKGLLQTRLP | ||||
| ESVKLQMCEL | LSYLCDCELQ | HRVEAIVAFG | DIYVSKLQAN | QKFRYNELMQ | ||||
| ALNMSAALTA | RKTKEFRSPP | QEQINMLLNF | QLGENCPCPE | EIREELYDFH | ||||
| EDLLLHCGVP | LEEEEEEEED | TSWTGKLCAL | VYKIKGPPKP | EKEQPTEEEE | ||||
| RCPTTLKELI | SQTMICWAQE | DQIQDSELVR | MMFNLLRRQY | DSIGELLQAL | ||||
| RKTYTISHTS | VSDTINLLAA | LGQIRSLLSV | RMGKEEELLM | INGLGDIMNN | ||||
| KVFYQHPNLM | RVLGMHETVM | EVMVNVLGTE | KSQIAFPKMV | ASCCRFLCYF | ||||
| CRISRQNQKA | MFEHLSYLLE | NSSVGLASPS | MRGSTPLDVA | ASSVMDNNEL | ||||
| ALSLEEPDLE | KVVTYLAGCG | LQSCPMLLAK | GYPDVGWNPI | EGERYLSFLR | ||||
| FAVFVNSESV | EENASVVVKL | LIRRPECFGP | ALRGEGGNGL | LAAMQGAIKI | ||||
| SENPALDLPS | QGYKREVSTG | DDEEEEEIVH | MGNAIMSFYS | ALIDLLGRCA | ||||
| PEMHLIQTGK | GEAIRIRSIL | RSLVPTEDLV | GIISIPLKLP | SLNKDGSVSE | ||||
| PDMAANFCPD | HKAPMVLFLD | RVYGIKDQTF | LLHLLEVGFL | PDLRASASLD | ||||
| TVSLSTTEAA | LALNRYICSA | VLPLLTRCAP | LFAGTEHCTS | LIDSTLQTIY | ||||
| RLSKGRSLTK | AQRDTIEECL | LAICNHLRPS | MLQQLLRRLV | FDVPQLNEYC | ||||
| KMPLKLLTNH | YEQCWKYYCL | PSGWGSYGLA | VEEELHLTEK | LFWGIFDSLS | ||||
| HKKYDPDLFR | MALPCLSAIA | GALPPDYLDT | RITATLEKQI | SVDADGNFDP | ||||
| KPINTMNFSL | PEKLEYIVTK | YAEHSHDKWA | CDKSQSGWKY | GISLDENVKT | ||||
| HPLIRPFKTL | TEKEKEIYRW | PARESLKTML | AVGWTVERTK | EGEALVQQRE | ||||
| NEKLRSVSQA | NQGNSYSPAP | LDLSNVVLSR | ELQGMVEVVA | ENYHNIWAKK | ||||
| KKLELESKGG | GSHPLLVPYD | TLTAKEKFKD | REKAQDLFKF | LQVNGIIVSR | ||||
| GMKDMELDAS | SMEKRFAYKF | LKKILKYVDS | AQEFIAHLEA | IVSSGKTEKS | ||||
| PRDQEIKFFA | KVLLPLVDQY | FTSHCLYFLS | SPLKPLSSSG | YASHKEKEMV | ||||
| AGLFCKLAAL | VRHRISLFGS | DSTTMVSCLH | ILAQTLDTRT | VMKSGSELVK | ||||
| AGLRAFFENA | AEDLEKTSEN | LKLGKFTHSR | TQIKGVSQNI | NYTTVALLPI | ||||
| LTSIFEHVTQ | HQFGMDLLLG | DVQISCYHIL | CSLYSLGTGK | NIYVERQRPA | ||||
| LGECLASLAA | AIPVAFLEPT | LNRYNPLSVF | NTKTPRERSI | LGMPDTVEDM | ||||
| CPDIPQLEGL | MKEINDLAES | GARYTEMPHV | IEVILPMLCN | YLSYWWERGP | ||||
| ENLPPSTGPC | CTKVTSEHLS | LILGNILKII | NNNLGIDEAS | WMKRIAVYAQ | ||||
| PIISKARPDL | LRSHFIPTLE | KLKKKAVKTV | QEEEQLKADG | KGDTQEAELL | ||||
| ILDEFAVLCR | DLYAFYPMLI | RYVDNNRSNW | LKSPDADSDQ | LFRMVAEVFI | ||||
| LWCKSHNFKR | EEQNFVIQNE | INNLAFLTGD | SKSKMSKAMQ | VKSGGQDQER | ||||
| KKTKRRGDLY | SIQTSLIVAA | LKKMLPIGLN | MCTPGDQELI | SLAKSRYSHR | ||||
| DTDEEVREHL | RNNLHLQEKS | DDPAVKWQLN | LYKDVLKSEE | PFNPEKTVER | ||||
| VQRISAAVFH | LEQVEQPLRS | KKAVWHKLLS | KQRKRAVVAC | FRMAPLYNLP | ||||
| RHRSINLFLH | GYQRFWIETE | EYSFEEKLVQ | DLAKSPKVEE | EEEEETEKQP | ||||
| DPLHQIILYF | SRNALTERSK | LEDDPLYTSY | SSMMAKSCQS | GEDEEEDEDK | ||||
| EKTFEEKEME | KQKTLYQQAR | LHERGAAEMV | LQMISASKGE | MSPMVVETLK | ||||
| LGIAILNGGN | AGVQQKMLDY | LKEKKDAGFF | QSLSGLMQSC | SVLDLNAFER | ||||
| QNKAEGLGMV | TEEGTLIVRE | RGEKVLQNDE | FTRDLFRFLQ | LLCEGHNSDF | ||||
| QNFLRTQMGN | TTTVNVIIST | VDYLLRLQES | ISDFYWYYSG | KDIIDESGQH | ||||
| NFSKALAVTK | QIFNSLTEYI | QGPCIGNQQS | LAHSRLWDAV | VGFLHVFANM | ||||
| QMKLSQDSSQ | IELLKELLDL | LQDMVVMLLS | LLEGNVVNGT | IGKQMVDTLV | ||||
| ESSTNVEMIL | KFFDMFLKLK | DLTSSDTFKE | YDPDGKGIIS | KKEFQKAMEG | ||||
| QKQYTQSEID | FLLSCAEADE | NDMFNYVDFV | DRFHEPAKDI | GFNVAVLLTN | ||||
| LSEHMPNDSR | LKCLLDPAES | VLNYFEPYLG | RIEIMGGAKK | IERVYFEISE | ||||
| SSRTQWEKPQ | VKESKRQFIF | DVVNEGGEQE | KMELFVNFCE | DTIFEMQLAS | ||||
| QISESDSADR | PEEEEEDEDS | SYVLEIAGEE | EEDGSLEPAS | AFAMACASVK | ||||
| RNVTDFLKRA | TLKNLRKQYR | NVKKMTAKEL | VKVLFSFFWM | LFVGLFQLLF | ||||
| TILGGIFQIL | WSTVFGGGLV | EGAKNIRVTK | ILGDMPDPTQ | FGIHDDTMEA | ||||
| ERAEVMEPGI | TTELVHFIKG | EKGDTDIMSD | LFGLHPKKEG | SLKHGPEVGL | ||||
| GDLSEIIGKD | EPPTLESTVQ | KKRKAQAAEM | KAANEAEGKV | ESEKADMEDG | ||||
| EKEDKDKEEE | QAEYLWTEVT | KKKKRRCGQK | VEKPEAFTAN | FFKGLEIYQT | ||||
| KLLHYLARNF | YNLRFLALFV | AFAINFILLF | YKVTEEPLEE | ETEDVANLWN | ||||
| SFNDEEEEEA | MVFFVLQEST | GYMAPTLRAL | AIIHTIISLV | CVVGYYCLKV | ||||
| PLVVFKREKE | IARKLEFDGL | YITEQPSEDD | IKGQWDRLVI | NTPSFPNNYW | ||||
| DKFVKRKVIN | KYGDLYGAER | IAELLGLDKN | ALDFSPVEET | KAEAASLVSW | ||||
| LSSIDMKYHI | WKLGVVFTDN | SFLYLAWYTT | MSVLGHYNNF | FFAAHLLDIA | ||||
| MGFKTLRTIL | SSVTHNGKQL | VLTVGLLAVV | VYLYTVVAFN | FFRKFYNKSE | ||||
| DDDEPDMKCD | DMMTCYLFHM | YVGVRAGGGI | GDEIEDPAGD | PYEMYRIVFD | ||||
| ITFFFFVIVI | LLAIIQGLII | DAFGELRDQQ | EQVREDMETK | CFICGIGNDY | ||||
| FDTTPHGFET | HTLQEHNLAN | YLFFLMYLIN | KDETEHTGQE | SYVWKMYQER | ||||
| CWDFFPAGDC | FRKQYEDQLG |
Кодований геном білок за функціями належить до рецепторів, іонних каналів. Задіяний у таких біологічних процесах, як транспорт іонів, транспорт, транспорт кальцію, альтернативний сплайсинг. Білок має сайт для зв'язування з молекулою кальмодуліну, іоном кальцію. Локалізований у мембрані, ендоплазматичному ретикулумі, саркоплазматичному ретикулумі, мікросомах.
Література
- Leeb T., Brenig B. (1998). cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene.. FEBS Lett. 423: 367 — 370. PubMed DOI:10.1016/S0014-5793(98)00124-0
- Martin C., Chapman K.E., Seckl J.R., Ashley R.H. (1998). Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.. Neuroscience 85: 205 — 216. PubMed DOI:10.1016/S0306-4522(97)00612-X
- Sorrentino V., Giannini G., Malzac P., Mattei M.-G. (1993). Localization of a novel ryanodine receptor gene (RYR3) to human chromosome 15q14-q15 by in situ hybridization.. Genomics 18: 163 — 165. PubMed DOI:10.1006/geno.1993.1446
- Lynn S., Morgan J.M., Lamb H.K., Meissner G., Gillespie J.I. (1995). Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle.. FEBS Lett. 372: 6 — 12. PubMed DOI:10.1016/0014-5793(95)00924-X
- Schwarzmann N., Kunerth S., Weber K., Mayr G.W., Guse A.H. (2002). Knock-down of the type 3 ryanodine receptor impairs sustained Ca2+ signaling via the T cell receptor/CD3 complex.. J. Biol. Chem. 277: 50636 — 50642. PubMed DOI:10.1074/jbc.M209061200
- Yuchi Z., Lau K., Van Petegem F. (2012). Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain.. Structure 20: 1201 — 1211. PubMed DOI:10.1016/j.str.2012.04.015
Примітки
- Захворювання, генетично пов'язані з RYR3 переглянути/редагувати посилання на ВікіДаних.
- Сполуки, які фізично взаємодіють з Ryanodine receptor 3 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:10485 (англ.). Процитовано 11 вересня 2017.
- UniProt, Q15413 (англ.). Процитовано 11 вересня 2017.
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