Ryanodine receptor 1

Details

Name
Ryanodine receptor 1
Synonyms
  • RYDR
  • RYR-1
  • Skeletal muscle calcium release channel
  • Skeletal muscle ryanodine receptor
  • Skeletal muscle-type ryanodine receptor
  • Type 1 ryanodine receptor
Gene Name
RYR1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0001474|Ryanodine receptor 1
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
Number of residues
5038
Molecular Weight
565170.715
Theoretical pI
4.96
GO Classification
Functions
calcium channel activity / calcium-release channel activity / calmodulin binding / ryanodine-sensitive calcium-release channel activity / voltage-gated calcium channel activity
Processes
calcium ion transport / cellular response to caffeine / cytosolic calcium ion homeostasis / ion transmembrane transport / muscle contraction / ossification involved in bone maturation / outflow tract morphogenesis / release of sequestered calcium ion into cytosol / release of sequestered calcium ion into cytosol by sarcoplasmic reticulum / response to caffeine / response to hypoxia / skeletal muscle fiber development / skin development / transmembrane transport
Components
cell cortex / cytoplasm / cytosol / extracellular exosome / I band / integral component of plasma membrane / junctional membrane complex / junctional sarcoplasmic reticulum membrane / plasma membrane / sarcoplasmic reticulum / sarcoplasmic reticulum membrane / smooth endoplasmic reticulum / T-tubule / terminal cisterna
General Function
Voltage-gated calcium channel activity
Specific Function
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).
Pfam Domain Function
Transmembrane Regions
4327-4347 4348-4368 4560-4580 4652-4672 4781-4801 4808-4828 4840-4860 4921-4941
Cellular Location
Sarcoplasmic reticulum membrane
Gene sequence
>lcl|BSEQ0020483|Ryanodine receptor 1 (RYR1)
ATGGGTGACGCAGAAGGCGAAGACGAGGTCCAGTTCCTGCGGACGGACGATGAGGTGGTC
CTGCAGTGCAGCGCTACCGTGCTCAAGGAGCAGCTCAAGCTCTGCCTGGCCGCCGAGGGC
TTCGGCAACCGCCTGTGCTTCCTGGAGCCCACTAGCAACGCGCAGAATGTGCCCCCCGAT
CTGGCCATCTGTTGCTTCGTCCTGGAGCAGTCCCTGTCTGTGCGAGCCCTGCAGGAGATG
CTGGCTAACACGGTGGAGGCTGGCGTGGAGTCATCCCAGGGCGGGGGACACAGGACGCTC
CTGTATGGCCATGCCATCCTGCTCCGGCATGCACACAGCCGCATGTATCTGAGCTGCCTC
ACCACCTCCCGCTCCATGACTGACAAGCTGGCCTTCGATGTGGGACTGCAGGAGGACGCA
ACAGGAGAGGCTTGCTGGTGGACCATGCACCCAGCCTCCAAGCAGAGGTCTGAAGGAGAA
AAGGTCCGCGTTGGGGATGACATCATCCTTGTCAGTGTCTCCTCCGAGCGCTACCTGCAC
CTGTCGACCGCCAGTGGGGAGCTCCAGGTTGACGCTTCCTTCATGCAGACACTATGGAAC
ATGAACCCCATCTGCTCCCGCTGCGAAGAGGGCTTCGTGACGGGAGGTCACGTCCTCCGC
CTCTTTCATGGACATATGGATGAGTGTCTGACCATTTCCCCTGCTGACAGTGATGACCAG
CGCAGACTTGTCTACTATGAGGGGGGAGCTGTGTGCACTCATGCCCGCTCCCTCTGGAGG
CTGGAGCCACTGAGAATCAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCGA
GTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGTGGTG
GTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGAG
AAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTAC
GGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGCTGCT
CCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGCCATGCTGCACCAGGAG
GGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCC
CGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGAGCCTGGACAGCTTC
AGCGGGAAGCCACGGGGCTCGGGGCCACCCGCTGGCACGGCGCTGCCCATCGAGGGCGTT
ATCCTGAGCCTGCAGGACCTCATCATCTACTTCGAGCCTCCCTCCGAGGACTTGCAGCAC
GAGGAGAAGCAGAGCAAGCTGCGAAGCCTGCGCAACCGCCAGAGCCTCTTCCAGGAGGAG
GGGATGCTCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCC
CACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCGAGTCCTGGAAAGAGATTGTGAATCTT
CTCTATGAACTCCTAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCC
ACAAACTTGGACTGGCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTCGTCTGGCATCCTG
GAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAACATCATCCAGGAGAAT
CACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCCTGGAC
GTGCTATGCTCCCTGTGTGTGTGTAATGGTGTGGCTGTACGCTCCAACCAAGATCTTATT
ACTGAGAACTTGCTGCCTGGCCGTGAGCTTCTGCTGCAGACAAACCTCATCAACTATGTC
ACCAGCATCCGCCCCAACATCTTTGTGGGCCGAGCGGAAGGCACCACGCAGTACAGCAAA
TGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTCAGGCCACCCAC
TTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGC
TGGGGCGGCAACGGGGTCGGCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTC
TGGACAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAA
GACGTGATCAGCTGCTGCCTGGACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGC
TGCCCCGTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTC
AGCTTCTCGGCTGGTGTCAAGGTGCGGTTCCTCCTTGGTGGCCGCCATGGTGAATTCAAG
TTCCTGCCCCCACCTGGCTATGCTCCATGCCATGAGGCTGTGCTCCCTCGAGAGCGACTC
CATCTTGAACCCATCAAGGAGTATCGACGGGAGGGGCCCCGGGGGCCTCACCTGGTGGGC
CCCAGTCGCTGCCTCTCACACACCGACTTCGTGCCCTGCCCTGTGGACACTGTCCAGATT
GTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGAGCTC
TGGGCGCTAACCCGCATCGAGCAGGGCTGGACCTACGGCCCGGTTCGGGATGACAACAAG
AGGCTGCACCCGTGTCTTGTGGACTTCCACAGCCTTCCAGAGCCTGAGAGGAACTACAAC
CTGCAGATGTCTGGGGAGACGCTCAAGACTCTGCTGGCTCTGGGCTGCCACGTGGGCATG
GCGGATGAGAAGGCGGAGGACAACCTGAAGAAGACAAAACTCCCCAAGACGTATATGATG
AGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAG
ACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGGGCCCGAGACCGCGTG
GGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTG
GTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAG
GCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGT
CAGGTGGAGAACCAGTCTCGTTGTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTAT
ACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCGAGATGCGC
GTGGGCTGGGCGAGGCCCGAGCTGAGGCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCC
TATGTCTTCAATGGGCACCGCGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGC
CCCTGGCAGCCGGGCGATGTCGTTGGCTGTATGATCGACCTCACAGAGAACACCATTATC
TTCACCCTCAATGGCGAGGTCCTCATGTCTGACTCAGGCTCCGAAACAGCCTTCCGGGAG
ATTGAGATTGGGGACGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGGTGGGTCAT
CTGAACCTGGGCCAGGACGTGAGCTCTCTGAGGTTCTTTGCCATCTGTGGCCTCCAGGAA
GGCTTCGAGCCATTTGCCATCAACATGCAGCGCCCAGTCACCACCTGGTTCAGCAAAGGC
CTGCCCCAGTTTGAGCCAGTGCCCCTTGAACACCCTCACTATGAGGTATCCCGAGTGGAC
GGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAAC
AGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTC
CGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGAC
GAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGC
TGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACC
CCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACC
GAGAAGAACAAGAAGAGAGGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAG
CCACCGGCCACCCCCACGCTGCCCCGACTCCCTCACGACGTGGTGCCTGCAGACAACCGC
GATGACCCCGAGATCATCCTCAACACCACCACGTACTATTACTCCGTGAGGGTCTTTGCT
GGACAGGAGCCCAGCTGCGTGTGGGCGGGCTGGGTCACCCCTGACTACCATCAGCACGAC
ATGAGCTTCGACCTCAGCAAGGTCCGGGTCGTGACGGTGACCATGGGGGATGAACAAGGC
AACGTCCACAGCAGCCTCAAGTGTAGCAACTGCTACATGGTGTGGGGCGGAGACTTTGTG
AGTCCCGGGCAGCAGGGCCGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGAC
TTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAACACCTTTTTCCAG
GTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTC
ATCCAGTTTGAGCTGGGGAAGCAGAAGAACATCATGCCGTTGTCAGCCGCCATGTTCCAA
AGCGAGCGCAAGAACCCGGCCCCGCAGTGCCCACCGCGGCTGGAGATGCAGATGCTGATG
CCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGC
GAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATC
CCCGAGGAGAACCGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGC
TTCCACTCGCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTG
GCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCG
CACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAA
AGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAG
ACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCAT
GGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCC
TGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCT
GCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGC
GACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCT
GTGCTCAAGCTCGTGTCCACCCTGCTGGTGATGGGCATCTTTGGCGATGAGGATGTGAAA
CAGATCTTGAAGATGATTGAGCCTGAGGTCTTCACTGAGGAAGAAGAGGAGGAGGACGAG
GAGGAAGAGGGTGAAGAGGAAGATGAGGAGGAGAAGGAGGAGGATGAGGAGGAAACAGCA
CAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAA
GGCTTGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAGATGTGC
CACCTGCTGGAGTATTTCTGTGACCAAGAGCTGCAGCACCGTGTGGAGTCCCTGGCAGCC
TTTGCGGAGCGCTATGTGGACAAGCTCCAGGCCAACCAGCGGAGCCGCTATGGCCTCCTC
ATAAAAGCCTTCAGCATGACCGCAGCAGAGACTGCAAGACGTACCCGCGAGTTCCGCTCC
CCACCCCAGGAACAGATCAATATGCTATTGCAATTCAAAGATGGTACAGATGAGGAAGAC
TGTCCTCTCCCTGAAGAGATTCGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCA
CACTGTGGAATTCAGCTAGATGGAGAGGAGGAGGAACCAGAGGAAGAGACCACCCTGGGC
AGCCGCCTCATGAGCCTGTTGGAGAAAGTGCGGCTGGTGAAGAAGAAGGAAGAGAAACCT
GAGGAGGAGCGGTCAGCAGAGGAGAGCAAACCCCGGTCCCTGCAGGAGCTGGTGTCCCAC
ATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATG
TTCAGCCTCCTGCACCGGCAGTACGACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGG
GCGTACACCATCTCACCGTCCTCCGTGGAAGACACCATGAGCCTGCTCGAGTGCCTCGGC
CAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGATCCAG
AGCATCGGGAACATCATGAACAACAAAGTCTTCTACCAACACCCGAACCTGATGAGGGCG
CTGGGCATGCACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCC
AAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTCTGCTATTTCTGC
CGAATCAGCCGGCAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAAC
AGTGGCATCGGCCTGGGCATGCAGGGCTCCACGCCCCTGGACGTGGCTGCTGCCTCCGTC
ATTGACAACAATGAGCTGGCCTTGGCATTGCAGGAGCAGGACCTGGAAAAGGTTGTGTCC
TACCTGGCAGGCTGTGGCCTCCAGAGCTGCCCCATGCTTGTGGCCAAAGGGTACCCAGAC
ATTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGCTGTCTTC
GTCAACGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATCCGGAAG
CCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATC
GAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGAC
CGGCGGCGCGAGCACTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACAC
GCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATG
CATCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTT
GTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGC
AAAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCG
TCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCAC
GTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGCCACT
TTCAGCACCACCGAGATGGCGCTGGCGCTGAACCGCTACCTGTGCCTGGCCGTGCTGCCG
CTCATCACCAAGTGTGCGCCGCTCTTTGCGGGCACAGAACACCGCGCCATCATGGTGGAC
TCTATGCTGCATACCGTGTACCGCCTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGT
GACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTACATCCGCCCGTCGATGCTGCAG
CACCTGTTGCGCCGCCTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCA
CTCAAGCTCCTCACCAACCACTATGAGCGCTGTTGGAAGTACTACTGCCTACCCACGGGC
TGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGAAACTCTTCTGG
GGCATCTTTGACTCTCTGGCCCATAAGAAATACGACCCGGAGCTGTACCGCATGGCCATG
CCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCA
TCTAAGGCAGAGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTG
GAGACCCTCAATGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAG
TACACACACGAGAAGTGGGCCTTCGACAAGATCCAGAACAACTGGTCCTATGGAGAGAAC
ATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAG
GACAAAGAGATTTACCGCTGGCCCATCAAGGAGTCCCTGAAGGCCATGATTGCCTGGGAA
TGGACGATAGAGAAGGCCAGGGAGGGTGAGGAGGAGAAGACGGAAAAGAAAAAAACGCGG
AAGATATCACAAAGTGCCCAGACCTATGATCCTCGAGAAGGCTACAACCCTCAGCCCCCC
GACCTTAGTGCTGTTACCCTGTCCCGGGAGCTGCAGGCCATGGCAGAACAACTGGCAGAA
AATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGCGGTGGG
ACCCACCCCCTGCTGGTCCCCTACGACACGCTCACGGCCAAGGAGAAGGCACGAGATCGA
GAGAAGGCCCAGGAGCTACTGAAATTCCTGCAGATGAATGGCTACGCGGTTACAAGAGGC
CTTAAGGACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTG
CAGCAGCTGCTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGAGGCTGTG
GTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAG
ATCCTGCTCCCTTTGATCAACCAGTACTTCACCAACCACTGCCTCTATTTCTTGTCCACT
CCGGCTAAAGTGCTGGGCAGCGGTGGCCACGCCTCTAACAAGGAGAAGGAAATGATCACC
AGCCTCTTCTGCAAACTTGCTGCTCTCGTCCGCCACCGAGTCTCTCTCTTTGGGACAGAC
GCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGACAGTG
ATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCG
GAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACC
CAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCACTGCTGCCGGTCCTC
ACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCTGGACGAC
GTCCAGGTCTCTTGCTACCGAACGCTGTGCAGTATCTACTCCCTGGGAACCACCAAGAAC
ACTTATGTGGAAAAGCTTCGGCCAGCCCTCGGGGAGTGCCTGGCCCGTCTGGCAGCAGCC
ATGCCGGTGGCGTTCCTGGAGCCGCAGCTGAACGAGTACAACGCCTGCTCCGTGTACACC
ACCAAGTCTCCGCGGGAGCGGGCCATCCTGGGGCTCCCCAACAGTGTGGAGGAGATGTGT
CCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGCCGAGTCAGGT
GCCCGCTACACAGAGATGCCGCATGTCATCGAGATCACGCTGCCCATGCTATGCAGCTAC
CTGCCCCGATGGTGGGAGCGCGGGCCCGAGGCACCCCCTTCCGCCCTGCCCGCCGGCGCC
CCCCCACCCTGCACAGCTGTCACCTCTGACCACCTCAACTCCCTGCTGGGGAATATCCTG
AGAATCATCGTCAACAACCTGGGCATTGACGAGGCCTCCTGGATGAAGCGGCTGGCTGTG
TTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCA
ACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGC
CTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGACGAGTTCTCTGTG
CTCTGCCGGGACCTCTACGCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGG
GCGCAGTGGCTGACGGAGCCGAATCCCAGCGCGGAGGAGCTGTTCAGGATGGTGGGCGAG
ATCTTCATCTACTGGTCCAAGTCCCACAACTTCAAGCGCGAGGAGCAGAACTTTGTGGTC
CAGAATGAGATCAACAACATGTCCTTCCTGACTGCTGACAACAAAAGCAAAATGGCTAAG
GCGGGAGATATACAGTCCGGTGGCTCGGACCAGGAACGCACCAAGAAGAAGCGCCGGGGG
GACCGGTACTCTGTGCAGACGTCACTGATCGTGGCCACACTGAAGAAGATGCTGCCCATC
GGCCTGAATATGTGTGCGCCCACCGACCAAGACCTCATCACGCTGGCCAAGACCCGTTAC
GCCCTGAAAGACACAGATGAGGAGGTCCGGGAATTTCTGCACAACAACCTTCACCTTCAG
GGAAAGGTCGAAGGCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCG
GGTCGCGAGGAGGACGCCGATGACCCCGAGAAAATCGTGCGCAGAGTCCAGGAAGTGTCA
GCCGTGCTCTACTACCTGGACCAGACCGAGCACCCTTACAAGTCTAAGAAGGCCGTGTGG
CACAAGCTTTTGTCCAAACAGCGCCGGCGGGCAGTCGTGGCCTGTTTCCGTATGACGCCC
CTGTACAACCTGCCCACGCACCGGGCATGTAACATGTTCCTGGAGAGCTACAAGGCTGCA
TGGATCCTGACTGAAGACCACAGTTTTGAGGACCGCATGATAGATGACCTTTCAAAAGCT
GGGGAGCAGGAGGAGGAGGAGGAAGAGGTGGAAGAGAAGAAGCCAGACCCCCTGCACCAG
TTGGTCCTGCACTTCAGCCGCACTGCCCTGACGGAAAAGAGCAAACTGGATGAGGATTAC
CTGTACATGGCCTATGCTGATATCATGGCAAAGAGCTGCCACCTGGAGGAGGGAGGGGAG
AACGGTGAAGCTGAAGAGGAGGTTGAGGTCTCCTTTGAGGAGAAACAGATGGAGAAGCAG
AGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGGGGCGGCCGAGATGGTGCTGCAG
ATGATCAGTGCCTGCAAAGGAGAGACAGGTGCCATGGTGTCCTCCACCCTGAAGCTGGGC
ATCTCCATCCTCAATGGAGGCAATGCTGAGGTCCAGCAGAAAATGCTGGATTATCTTAAG
GACAAGAAGGAAGTTGGCTTCTTCCAGAGTATCCAGGCACTGATGCAAACATGCAGCGTC
CTGGATCTCAATGCCTTTGAGAGACAGAACAAGGCCGAGGGGCTGGGCATGGTGAATGAG
GATGGCACTGTCATCAATCGCCAGAACGGAGAGAAGGTCATGGCGGATGATGAATTCACA
CAAGACCTGTTCCGATTCCTACAATTGCTCTGTGAGGGGCACAATAATGATTTCCAGAAC
TACCTACGGACACAGACAGGGAACACGACCACTATTAACATCATCATTTGCACTGTGGAC
TACCTCCTGCGGCTGCAGGAATCCATCAGCGACTTCTACTGGTACTACTCGGGCAAGGAT
GTCATTGAAGAGCAGGGCAAGAGGAACTTCTCCAAAGCCATGTCGGTGGCTAAGCAGGTG
TTCAACAGCCTCACTGAGTACATCCAGGGTCCCTGCACCGGGAACCAGCAGAGCCTGGCG
CACAGTCGCCTATGGGACGCAGTGGTGGGATTCCTGCACGTGTTCGCCCACATGATGATG
AAGCTCGCTCAGGACTCAAGCCAGATCGAGCTGCTGAAGGAGCTGCTGGATCTGCAGAAG
GACATGGTGGTGATGTTGCTGTCGCTACTAGAAGGGAACGTGGTGAACGGCATGATCGCC
CGGCAGATGGTGGACATGCTCGTGGAATCCTCATCCAATGTGGAGATGATCCTCAAGTTC
TTCGACATGTTCCTGAAACTCAAGGACATTGTGGGCTCTGAAGCCTTCCAGGACTACGTA
ACGGATCCCCGTGGCCTCATCTCCAAGAAGGACTTCCAGAAGGCCATGGACAGCCAGAAG
CAGTTCAGCGGTCCAGAAATCCAGTTCCTGCTTTCGTGCTCCGAAGCGGATGAGAACGAA
ATGATCAACTGCGAAGAGTTCGCCAACCGCTTCCAGGAGCCAGCACGCGACATCGGCTTC
AACGTGGCGGTGCTGCTGACCAACCTGTCGGAGCATGTGCCGCATGACCCTCGCCTGCAC
AACTTCCTGGAGCTGGCCGAGAGCATCCTTGAGTACTTCCGCCCCTACCTGGGCCGCATC
GAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTCGAGATCTCAGAGACCAAC
CGCGCCCAGTGGGAGATGCCCCAGGTGAAGGAGTCCAAGCGCCAGTTCATCTTCGACGTG
GTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACACC
ATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGAC
GAGGACGAGGGCGCGGGCGCGGCGGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCG
GGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGTGGCGGCC
GCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCGGCGGCGCGTGCGGCGGCTG
CGGCGGCTTACGGCCCGCGAGGCGGCCACCGCAGTGGCGGCGCTGCTCTGGGCAGCAGTG
ACGCGCGCTGGGGCCGCTGGCGCGGGGGCGGCGGCGGGCGCGCTGGGCCTGCTCTGGGGC
TCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTG
GCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGC
GGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGA
GACGAGGAGGAGGCGGTGCACGAGGCCGGGCCGGGCGGTGCCGACGGGGCGGTGGCCGTG
ACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGGACACG
ACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTG
GATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAG
CCGGAGAAAGCCGATGCCGAGAATGGGGAGAAGGAAGAAGTTCCCGAGCCCACACCAGAG
CCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGGCGAA
TTCTGGGGAGAACTGGAGGTGCAGAGGGTGAAGTTCCTGAACTACCTGTCCCGGAACTTT
TACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCAACTTCATCTTGCTGTTT
TATAAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGAT
GTGTCAGGTGCAGGCTCTGGTGGCAGCTCTGGCTGGGGCTTGGGGGCCGGAGAGGAGGCA
GAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCACAGGCTACATG
GAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATT
GGCTATAATTGTCTCAAGGTGCCCCTGGTAATCTTTAAGCGGGAGAAGGAGCTGGCCCGG
AAGCTGGAGTTTGATGGCCTGTACATCACGGAGCAGCCTGAGGACGATGACGTGAAGGGG
CAGTGGGACCGACTGGTGCTCAACACGCCGTCTTTCCCTAGCAACTACTGGGACAAGTTT
GTCAAGCGCAAGGTCCTGGACAAACATGGGGACATCTACGGGCGGGAGCGGATTGCTGAG
CTACTGGGCATGGACCTGGCCACACTAGAGATCACAGCCCACAATGAGCGCAAGCCCAAC
CCGCCGCCAGGGCTGCTGACCTGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAG
TTCGGGGTCATCTTCACAGACAACTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCC
CTCTTGGGACACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGG
GTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCACAATGGGAAACAGCTGGTGATG
ACCGTGGGCCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTC
CGCAAGTTCTACAACAAGAGCGAGGATGAGGATGAACCTGACATGAAGTGTGATGACATG
ATGACGTGTTACCTGTTTCACATGTACGTGGGTGTCCGGGCTGGCGGAGGCATTGGGGAC
GAGATCGAGGACCCCGCGGGTGACGAATACGAGCTCTACAGGGTGGTCTTCGACATCACC
TTCTTCTTCTTCGTCATCGTCATCCTGTTGGCCATCATCCAGGGTCTGATCATCGACGCT
TTTGGTGAGCTCCGAGACCAACAAGAGCAAGTGAAGGAGGATATGGAGACCAAGTGCTTC
ATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACG
CTGGAGGAGCACAACCTGGCCAATTACATGTTTTTCCTGATGTATTTGATAAACAAGGAT
GAGACAGAACACACGGGTCAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGG
GATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGA
Chromosome Location
19
Locus
19q13.1
External Identifiers
ResourceLink
UniProtKB IDP21817
UniProtKB Entry NameRYR1_HUMAN
GenBank Protein ID337722
GenBank Gene IDJ05200
GenAtlas IDRYR1
HGNC IDHGNC:10483
General References
  1. Zorzato F, Fujii J, Otsu K, Phillips M, Green NM, Lai FA, Meissner G, MacLennan DH: Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem. 1990 Feb 5;265(4):2244-56. [PubMed:2298749]
  2. Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH: Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54. [PubMed:1354642]
  3. Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH: A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep;5(1):46-50. [PubMed:8220422]
  4. Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH: The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996 May 15;34(1):24-41. [PubMed:8661021]
  5. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [PubMed:15057824]
  6. Otsu K, Phillips MS, Khanna VK, de Leon S, MacLennan DH: Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia. Genomics. 1992 Jul;13(3):835-7. [PubMed:1639409]
  7. Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH: A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 Nov;11(3):751-5. [PubMed:1774074]
  8. Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G: Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. J Neurol. 1995 Feb;242(3):127-33. [PubMed:7751854]
  9. Lynn S, Morgan JM, Lamb HK, Meissner G, Gillespie JI: Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle. FEBS Lett. 1995 Sep 18;372(1):6-12. [PubMed:7556644]
  10. Martin C, Chapman KE, Seckl JR, Ashley RH: Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum. Neuroscience. 1998 Jul;85(1):205-16. [PubMed:9607712]
  11. Sun J, Xin C, Eu JP, Stamler JS, Meissner G: Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO. Proc Natl Acad Sci U S A. 2001 Sep 25;98(20):11158-62. Epub 2001 Sep 18. [PubMed:11562475]
  12. Wright NT, Prosser BL, Varney KM, Zimmer DB, Schneider MF, Weber DJ: S100A1 and calmodulin compete for the same binding site on ryanodine receptor. J Biol Chem. 2008 Sep 26;283(39):26676-83. doi: 10.1074/jbc.M804432200. Epub 2008 Jul 23. [PubMed:18650434]
  13. Bellinger AM, Reiken S, Dura M, Murphy PW, Deng SX, Landry DW, Nieman D, Lehnart SE, Samaru M, LaCampagne A, Marks AR: Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity. Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2198-202. doi: 10.1073/pnas.0711074105. Epub 2008 Feb 11. [PubMed:18268335]
  14. Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography. Proteomics. 2008 Apr;8(7):1346-61. doi: 10.1002/pmic.200700884. [PubMed:18318008]
  15. Lanner JT, Georgiou DK, Joshi AD, Hamilton SL: Ryanodine receptors: structure, expression, molecular details, and function in calcium release. Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a003996. doi: 10.1101/cshperspect.a003996. Epub 2010 Oct 20. [PubMed:20961976]
  16. Bohm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J: Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012 Oct;124(4):575-81. doi: 10.1007/s00401-012-1007-3. Epub 2012 Jul 3. [PubMed:22752422]
  17. Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al.: Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51-5. [PubMed:8220423]
  18. Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV: Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics. 1994 Sep 1;23(1):236-9. [PubMed:7829078]
  19. Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al.: Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 Mar;3(3):471-6. [PubMed:8012359]
  20. Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al.: Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8. [PubMed:7849712]
  21. Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH: The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Mol Genet. 1994 Dec;3(12):2181-6. [PubMed:7881417]
  22. Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J: Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology. 1997 Mar;86(3):620-6. [PubMed:9066328]
  23. Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy TV: Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br J Anaesth. 1997 Sep;79(3):332-7. [PubMed:9389851]
  24. Keating KE, Giblin L, Lynch PJ, Quane KA, Lehane M, Heffron JJ, McCarthy TV: Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J Med Genet. 1997 Apr;34(4):291-6. [PubMed:9138151]
  25. Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJ, Muller CR, McCarthy TV: Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am J Hum Genet. 1998 Mar;62(3):599-609. [PubMed:9497245]
  26. Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV: Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum Mutat. 1998;11(1):45-50. [PubMed:9450902]
  27. Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F: Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet. 1999 Oct;8(11):2055-62. [PubMed:10484775]
  28. Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V: Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet. 1999 Feb;36(2):115-8. [PubMed:10051009]
  29. Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, Heffron JJ, Vaughan P, Zafra G, MacLennan DH, McCarthy TV: A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):4164-9. [PubMed:10097181]
  30. Chamley D, Pollock NA, Stowell KM, Brown RL: Malignant hyperthermia in infancy and identification of novel RYR1 mutation. Br J Anaesth. 2000 Apr;84(4):500-4. [PubMed:10823104]
  31. Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM: A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet. 2000 Jun 12;9(10):1515-24. [PubMed:10888602]
  32. Gencik M, Gencik A, Mortier W, Epplen JT: Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia. Hum Mutat. 2000 Jan;15(1):122. [PubMed:10612851]
  33. Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH: A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology. 2000 Dec 12;55(11):1689-96. [PubMed:11113224]
  34. Sambuughin N, McWilliams S, de Bantel A, Sivakumar K, Nelson TE: Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet. 2001 Jul;69(1):204-8. Epub 2001 May 29. [PubMed:11389482]
  35. Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM: North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations. Anesthesiology. 2001 Sep;95(3):594-9. [PubMed:11575529]
  36. Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J: Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. [PubMed:11709545]
  37. Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S: Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 Dec 1;10(25):2879-87. [PubMed:11741831]
  38. Rueffert H, Kraus H, Olthoff D, Deutrich C, Froster UG: Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia. Hum Mutat. 2001 Mar;17(3):238. [PubMed:11241852]
  39. Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG: Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families. Neuromuscul Disord. 2001 Sep;11(6-7):530-7. [PubMed:11525881]
  40. Rueffert H, Olthoff D, Deutrich C, Meinecke CD, Froster UG: Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Acta Anaesthesiol Scand. 2002 Jul;46(6):692-8. [PubMed:12059893]
  41. Monnier N, Krivosic-Horber R, Payen JF, Kozak-Ribbens G, Nivoche Y, Adnet P, Reyford H, Lunardi J: Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002 Nov;97(5):1067-74. [PubMed:12411788]
  42. Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P: A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol. 2002 Jun;51(6):750-9. [PubMed:12112081]
  43. Davis M, Brown R, Dickson A, Horton H, James D, Laing N, Marston R, Norgate M, Perlman D, Pollock N, Stowell K: Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. Br J Anaesth. 2002 Apr;88(4):508-15. [PubMed:12066726]
  44. Galli L, Orrico A, Cozzolino S, Pietrini V, Tegazzin V, Sorrentino V: Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 Sep;32(3):143-51. [PubMed:12208234]
  45. McWilliams S, Nelson T, Sudo RT, Zapata-Sudo G, Batti M, Sambuughin N: Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia. Clin Genet. 2002 Jul;62(1):80-3. [PubMed:12123492]
  46. Oyamada H, Oguchi K, Saitoh N, Yamazawa T, Hirose K, Kawana Y, Wakatsuki K, Oguchi K, Tagami M, Hanaoka K, Endo M, Iino M: Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Jpn J Pharmacol. 2002 Feb;88(2):159-66. [PubMed:11928716]
  47. Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F: Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology. 2002 Jul 23;59(2):284-7. [PubMed:12136074]
  48. Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH: Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. Anesthesiology. 2003 Aug;99(2):297-302. [PubMed:12883402]
  49. Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, Dwyer J, Dove J, Roberts AP, Sewry CA: Central core disease: clinical, pathological, and genetic features. Arch Dis Child. 2003 Dec;88(12):1051-5. [PubMed:14670767]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB01219Dantroleneapproved, investigationalyesantagonistDetails
DB00201CaffeineapprovedunknownDetails
DB04786SuramininvestigationalunknownagonistDetails
DB09085Tetracaineapproved, vet_approvedyesmodulatorDetails
DB11093Calcium Citrateapproved, investigationalunknownsubstrateDetails
DB11348Calcium PhosphateapprovedunknownsubstrateDetails
DB14481Calcium phosphate dihydrateapprovedunknownDetails