Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.
| RefSeq Version | NM_000540.2, 113204614 |
| Length | 15391 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. |
| Product | ryanodine receptor 1 isoform 1 |
| Comment | Summary: This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq]. Transcript Variant: This variant (1) encodes the longer isoform (1). |
| RefSeq | NP_000531.2 |
| CDS | 131..15247 | Exon (1) | 1..175 | Exon (2) | 1..175 | Exon (3) | 176..295 | Exon (4) | 296..400 | Exon (5) | 401..475 | Exon (6) | 476..554 | Exon (7) | 555..667 | Exon (8) | 668..761 | Exon (9) | 762..855 | Exon (10) | 856..930 | Exon (11) | 931..1087 | Exon (12) | 1088..1252 | Exon (13) | 1253..1374 | Exon (14) | 1375..1570 | Exon (15) | 1571..1706 | Exon (16) | 1707..1802 | Exon (17) | 1803..1921 | Exon (18) | 1922..2055 | Exon (19) | 2056..2297 | Exon (20) | 2298..2490 | Exon (21) | 2491..2707 | Exon (22) | 2708..2812 | Exon (23) | 2813..2916 | Exon (24) | 2917..3000 | Exon (25) | 3001..3308 | Exon (26) | 3309..3511 | Exon (27) | 3512..3686 | Exon (28) | 3687..3895 | Exon (29) | 3896..4290 | Exon (30) | 4291..4423 | Exon (31) | 4424..4584 | Exon (32) | 4585..4750 | Exon (33) | 4751..4837 | Exon (34) | 4838..5064 | Exon (35) | 5065..5677 | Exon (36) | 5678..5944 | Exon (37) | 5945..6145 | Exon (38) | 6146..6257 | Exon (39) | 6258..6404 | Exon (40) | 6405..6678 | Exon (41) | 6679..6793 | Exon (42) | 6794..6926 | Exon (43) | 6927..7021 | Exon (44) | 7022..7157 | Exon (45) | 7158..7344 | Exon (46) | 7345..7453 | Exon (47) | 7454..7574 | Exon (48) | 7575..7744 | Exon (49) | 7745..7965 | Exon (50) | 7966..8056 | Exon (51) | 8057..8197 | Exon (52) | 8198..8361 | Exon (53) | 8362..8440 | Exon (54) | 8441..8530 | Exon (55) | 8531..8671 | Exon (56) | 8672..8746 | Exon (57) | 8747..8822 | Exon (58) | 8823..8946 | Exon (59) | 8947..9062 | Exon (60) | 9063..9130 | Exon (61) | 9131..9252 | Exon (62) | 9253..9302 | Exon (63) | 9303..9363 | Exon (64) | 9364..9602 | Exon (65) | 9603..9684 | Exon (66) | 9685..9815 | Exon (67) | 9816..10148 | Exon (68) | 10149..10389 | Exon (69) | 10390..10477 | Exon (70) | 10478..10570 | Exon (71) | 10571..10585 | Exon (72) | 10586..10756 | Exon (73) | 10757..10816 | Exon (74) | 10817..10954 | Exon (75) | 10955..11067 | Exon (76) | 11068..11164 | Exon (77) | 11165..11271 | Exon (78) | 11272..11323 | Exon (79) | 11324..11389 | Exon (80) | 11390..11489 | Exon (81) | 11490..11569 | Exon (82) | 11570..11646 | Exon (83) | 11647..11720 | Exon (84) | 11721..11738 | Exon (85) | 11739..11819 | Exon (86) | 11820..11908 | Exon (87) | 11909..12037 | Exon (88) | 12038..12142 | Exon (89) | 12143..12224 | Exon (90) | 12225..12412 | Exon (91) | 12413..12754 | Exon (92) | 12755..13567 | Exon (93) | 13568..13644 | Exon (94) | 13645..13789 | Exon (95) | 13790..13876 | Exon (96) | 13877..14128 | Exon (97) | 14129..14259 | Exon (98) | 14260..14302 | Exon (99) | 14303..14433 | Exon (100) | 14434..14494 | Exon (101) | 14495..14641 | Exon (102) | 14642..14776 | Exon (103) | 14777..14933 | Exon (104) | 14934..14998 | Exon (105) | 14999..15099 | Exon (106) | 15100..15151 | Exon (107) | 15152..15391 |
| Translation | MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPD
LAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCL
TTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLH
LSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQ
RRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAA
PDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEE
GMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFS
TNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSK
WYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHL
WTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESFNLDGLFFPVV
SFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMM
SNGYKPAPLDLSHVRLTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRL
VPYRLLDEATKRSNRDSLCQAVRTLLGYGYNIEPPDQEPSQVENQSRCDRVRIFRAEKSY
TVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNGHRGQRWHLGSEPFGR
PWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAED
EARAAEPDPDYENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATT
EKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFA
GQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNV
IQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAG
ERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPE
TRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVK
QILKMIEPEVFTEEEEEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEE
GLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAAFAERYVDKLQANQRSRYGLL
IKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQDLLDFHQDLLA
HCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLG
QIRSLLIVQMGPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGES
KEIRFPKMVTSCCRFLCYFCRISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASV
IDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNPCGGERYLDFLRFAVF
VNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSL
VPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVD
SMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMP
LKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAE
YTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWE
WTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRELQAMAEQLAE
NYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTD
APAVVNCLHILARSLDARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQART
QVKGVGQNLTYTTVALLPVLTTLFQHIAQHQFGDDVILDDVQVSCYRTLCSIYSLGTTKN
TYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPRERAILGLPNSVEEMC
PDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNR
AQWLTEPNPSAEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAK
AGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRY
ALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAA
WILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDY
LYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSV
LDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQV
FNSLTEYIQGPCTGNQQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQK
DMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKFFDMFLKLKDIVGSEAFQDYV
TDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANRFQEPARDIGF
NVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETD
EDEGAGAAEAGAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRL
RRLTAREAATAVAALLWAAVTRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELL
AGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEAVHEAGPGGADGAVAV
TDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNF
YTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELAR
KLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAE
LLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFF
RKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDIT
FFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFDTTPHGFETHT
LEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS
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| Gene Symbol | RYR1 |
| Gene Synonym | CCO; MHS; MHS1; RYDR; RYR; SKRR |
| Chromosome | 19 |
| Locus Map | 19q13.1 |
| All Transcripts | NM_000540 , NM_001042723 |
| Title | [Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families] . |
| Author | Lee,H., Kim,D.C., Lee,J.H., Cho,Y.G., Lee,H.S., Choi,S.I. and Kim,D.S. |
| Journal | Korean J Lab Med 30 (6), 702-710 (2010) |
| Title | RYR1 mutations are a common cause of congenital myopathies with central nuclei . |
| Author | Wilmshurst,J.M., Lillis,S., Zhou,H., Pillay,K., Henderson,H., Kress,W., Muller,C.R., Ndondo,A., Cloke,V., Cullup,T., Bertini,E., Boennemann,C., Straub,V., Quinlivan,R., Dowling,J.J., Al-Sarraj,S., Treves,S., Abbs,S., Manzur,A.Y., Sewry,C.A., Muntoni,F. and Jungbluth,H. |
| Journal | Ann. Neurol. 68 (5), 717-726 (2010) |
| Title | Familial RYR 1 mutation associated with mild and severe central core disease . |
| Author | Erendzhinova,E., Robinson,C.A., Lowry,N.J. and Lemire,E.G. |
| Journal | Can J Neurol Sci 37 (4), 528-531 (2010) |
| Title | Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion . |
| Author | Clarke,N.F., Waddell,L.B., Cooper,S.T., Perry,M., Smith,R.L., Kornberg,A.J., Muntoni,F., Lillis,S., Straub,V., Bushby,K., Guglieri,M., King,M.D., Farrell,M.A., Marty,I., Lunardi,J., Monnier,N. and North,K.N. |
| Journal | Hum. Mutat. 31 (7), E1544-E1550 (2010) |
| Title | Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia . |
| Author | Grievink,H. and Stowell,K.M. |
| Journal | Orphanet J Rare Dis 5, 10 (2010) |
| Title | Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia . |
| Author | Gillard,E.F., Otsu,K., Fujii,J., Duff,C., de Leon,S., Khanna,V.K., Britt,B.A., Worton,R.G. and MacLennan,D.H. |
| Journal | Genomics 13 (4), 1247-1254 (1992) |
| Title | Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia . |
| Author | Otsu,K., Phillips,M.S., Khanna,V.K., de Leon,S. and MacLennan,D.H. |
| Journal | Genomics 13 (3), 835-837 (1992) |
| Title | FK506 binding protein associated with the calcium release channel (ryanodine receptor) . |
| Author | Jayaraman,T., Brillantes,A.M., Timerman,A.P., Fleischer,S., Erdjument-Bromage,H., Tempst,P. and Marks,A.R. |
| Journal | J. Biol. Chem. 267 (14), 9474-9477 (1992) |
| Title | A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia . |
| Author | Gillard,E.F., Otsu,K., Fujii,J., Khanna,V.K., de Leon,S., Derdemezi,J., Britt,B.A., Duff,C.L., Worton,R.G. and MacLennan,D.H. |
| Journal | Genomics 11 (3), 751-755 (1991) |
| Title | Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia . |
| Author | Fujii,J., Otsu,K., Zorzato,F., de Leon,S., Khanna,V.K., Weiler,J.E., O'Brien,P.J. and MacLennan,D.H. |
| Journal | Science 253 (5018), 448-451 (1991) |
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