• Gene id: 6261

Gene Summary

• Gene Symbol: RYR1   Gene   UCSC   Ensembl
• Aliases: CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR
• Gene name: ryanodine receptor 1
• Alternate names: ryanodine receptor 1, central core disease of muscle, protein phosphatase 1, regulatory subunit 137, ryanodine receptor 1 (skeletal), sarcoplasmic reticulum calcium release channel, skeletal muscle calcium release channel, skeletal muscle ryanodine receptor, typ,
• Gene location: 19q13.2 (30053025: 30024422)     Exons: 13     NC_000016.10
• Gene summary(Entrez): 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 a
• OMIM: 180901

Protein Summary

• Protein general information: P21817  
  • Name: Ryanodine receptor 1 (RYR 1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle type ryanodine receptor) (Type 1 ryanodine receptor)
  • Length: 5038  
  • Mass: 565176
  • Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus). {ECO
• Sequence:

  MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVR
  ALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMH
  PASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGH
  MDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVV
  VDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAAPDPKALRLGVLKKKA
  MLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSFSGKPRGSGPPAGTALPIEGVILSLQDLIIY
  FEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELL
  ASLIRGNRSNCALFSTNLDWLVSKLDRLEASSGILEVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLD
  VLCSLCVCNGVAVRSNQDLITENLLPGRELLLQTNLINYVTSIRPNIFVGRAEGTTQYSKWYFEVMVDEVTPFLT
  AQATHLRVGWALTEGYTPYPGAGEGWGGNGVGDDLYSYGFDGLHLWTGHVARPVTSPGQHLLAPEDVISCCLDLS
  VPSISFRINGCPVQGVFESFNLDGLFFPVVSFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPI
  KEYRREGPRGPHLVGPSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNK
  RLHPCLVDFHSLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMMSNGYKPAPLDLSHVR
  LTPAQTTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRLVPYRLLDEATKRSNRDSLCQAVRTLLGYGY
  NIEPPDQEPSQVENQSRCDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELAYVFNG
  HRGQRWHLGSEPFGRPWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPVCSLGPGQVGH
  LNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVDGTVDTPPCLRLTHRT
  WGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAEDEARAAEPDPDYENLRRSAGGWSEAENGKEG
  TAKEGAPGGTPQAGGEAQPARAENEKDATTEKNKKRGFLFKAKKVAMMTQPPATPTLPRLPHDVVPADNRDDPEI
  ILNTTTYYYSVRVFAGQEPSCVWAGWVTPDYHQHDMSFDLSKVRVVTVTMGDEQGNVHSSLKCSNCYMVWGGDFV
  SPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQVEPNTKLFPAVFVLPTHQNVIQFELGKQKNIMPLS
  AAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNHFLQVETRRAGERLGWAVQCQEPLTMMALHIPEENRCMDIL
  ELSERLDLQRFHSHTLRLYRAVCALGNNRVAHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRS
  RRSMLSEYIVPLTPETRAITLFPPGRSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSP
  AIPLEALRDKALRMLGEAVRDGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVKQILKMIEPEVFTEEE
  EEEDEEEEGEEEDEEEKEEDEEETAQEKEDEEKEEEEAAEGEKEEGLEEGLLQMKLPESVKLQMCHLLEYFCDQE
  LQHRVESLAAFAERYVDKLQANQRSRYGLLIKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPE
  EIRQDLLDFHQDLLAHCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH
  MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLGQIRSLLIVQMGPQEE
  NLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEIRFPKMVTSCCRFLCYFCRISRQNQRSM
  FDHLSYLLENSGIGLGMQGSTPLDVAAASVIDNNELALALQEQDLEKVVSYLAGCGLQSCPMLVAKGYPDIGWNP
  CGGERYLDFLRFAVFVNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAIEEAIRISEDPARDGPGIRRD
  RRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEALRIRAILRSLVPLEDLVGIISLPLQ
  IPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLHVLDVGFLPDMRAAASLDTATFSTTEMALAL
  NRYLCLAVLPLITKCAPLFAGTEHRAIMVDSMLHTVYRLSRGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRR
  LVFDVPILNEFAKMPLKLLTNHYERCWKYYCLPTGWANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAM
  PCLCAIAGALPPDYVDASYSSKAEKKATVDAEGNFDPRPVETLNVIIPEKLDSFINKFAEYTHEKWAFDKIQNNW
  SYGENIDEELKTHPMLRPYKTFSEKDKEIYRWPIKESLKAMIAWEWTIEKAREGEEEKTEKKKTRKISQSAQTYD
  PREGYNPQPPDLSAVTLSRELQAMAEQLAENYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQE
  LLKFLQMNGYAVTRGLKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAK
  ILLPLINQYFTNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTDAPAVVNCLHILARSL
  DARTVMKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQARTQVKGVGQNLTYTTVALLPVLTTLFQHIAQH
  QFGDDVILDDVQVSCYRTLCSIYSLGTTKNTYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYTTKSPR
  ERAILGLPNSVEEMCPDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPEAPPSALPAGA
  PPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIPTIGRLRKRAGKVVSE
  EEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNRAQWLTEPNPSAEELFRMVGEIFIYWSKSHN
  FKREEQNFVVQNEINNMSFLTADNKSKMAKAGDIQSGGSDQERTKKKRRGDRYSVQTSLIVATLKKMLPIGLNMC
  APTDQDLITLAKTRYALKDTDEEVREFLHNNLHLQGKVEGSPSLRWQMALYRGVPGREEDADDPEKIVRRVQEVS
  AVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTPLYNLPTHRACNMFLESYKAAWILTEDHSFEDRMID
  DLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTALTEKSKLDEDYLYMAYADIMAKSCHLEEGGENGEAEEEVEV
  SFEEKQMEKQRLLYQQARLHTRGAAEMVLQMISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEV
  GFFQSIQALMQTCSVLDLNAFERQNKAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQN
  YLRTQTGNTTTINIIICTVDYLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQVFNSLTEYIQGPCTGN
  QQSLAHSRLWDAVVGFLHVFAHMMMKLAQDSSQIELLKELLDLQKDMVVMLLSLLEGNVVNGMIARQMVDMLVES
  SSNVEMILKFFDMFLKLKDIVGSEAFQDYVTDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCE
  EFANRFQEPARDIGFNVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN
  RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETDEDEGAGAAEAGAEGA
  EEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRLRRLTAREAATAVAALLWAAVTRAGAAGAGA
  AAGALGLLWGSLFGGGLVEGAKKVTVTELLAGMPDPTSDEVHGEQPAGPGGDADGEGASEGAGDAAEGAGDEEEA
  VHEAGPGGADGAVAVTDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGVDGVEEELPPEPEPEPEPELE
  PEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRVKFLNYLSRNFYTLRFLALFLAFAIN
  FILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEAEGDEDENMVYYFLEESTGYMEPALRCLSLL
  HTLVAFLCIIGYNCLKVPLVIFKREKELARKLEFDGLYITEQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKV
  LDKHGDIYGRERIAELLGMDLATLEITAHNERKPNPPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMS
  LLGHYNNFFFAAHLLDIAMGVKTLRTILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNKSEDEDEPDM
  KCDDMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQ
  VKEDMETKCFICGIGSDYFDTTPHGFETHTLEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPA
  GDCFRKQYEDQLS

• Structural information:
  • Protein Domains: (97..15-)
    (/note="MIR-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (159..20-)
    (/note="MIR-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (210..26-)
    (/note="MIR-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00131-)
    (-)
  • Interpro: IPR001870  IPR013320  IPR011992  IPR014821  IPR005821   IPR036300  IPR016093  IPR013662  IPR000699  IPR013333  IPR003032  IPR009460  IPR035910  IPR033215  IPR035761  IPR035764  IPR035762  IPR003877  
  • Prosite: PS50188 PS50919
  • CDD: cd12877 cd12878 cd12879
  • DIP: 29708
  • STRING: ENSP00000352608
• Other Databases: GeneCards:  RYR1  Malacards:  RYR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005219	ryanodine-sensitive calcium-release channel activity	IDA	molecular function
GO:0030659	cytoplasmic vesicle membrane	IBA	cellular component
GO:0005790	smooth endoplasmic reticulum	IBA	cellular component
GO:0005509	calcium ion binding	IBA	molecular function
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0048763	calcium-induced calcium release activity	IBA	molecular function
GO:0042383	sarcolemma	IBA	cellular component
GO:0034704	calcium channel complex	IBA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005219	ryanodine-sensitive calcium-release channel activity	IBA	molecular function
GO:0033017	sarcoplasmic reticulum membrane	IDA	cellular component
GO:0048741	skeletal muscle fiber development	ISS	biological process
GO:0005262	calcium channel activity	ISS	molecular function
GO:0005245	voltage-gated calcium channel activity	ISS	molecular function
GO:0014802	terminal cisterna	ISS	cellular component
GO:1990425	ryanodine receptor complex	ISS	cellular component
GO:0071277	cellular response to calcium ion	ISS	biological process
GO:0051289	protein homotetramerization	ISS	biological process
GO:0005509	calcium ion binding	ISS	molecular function
GO:0071313	cellular response to caffeine	ISS	biological process
GO:0043931	ossification involved in bone maturation	ISS	biological process
GO:0043588	skin development	ISS	biological process
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0006936	muscle contraction	ISS	biological process
GO:0005219	ryanodine-sensitive calcium-release channel activity	ISS	molecular function
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component
GO:0031301	integral component of organelle membrane	ISS	cellular component
GO:0005219	ryanodine-sensitive calcium-release channel activity	IMP	molecular function
GO:0071313	cellular response to caffeine	IMP	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IMP	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IMP	biological process
GO:0005219	ryanodine-sensitive calcium-release channel activity	IMP	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0071313	cellular response to caffeine	ISS	biological process
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS	biological process
GO:0005219	ryanodine-sensitive calcium-release channel activity	IMP	molecular function
GO:0071313	cellular response to caffeine	IMP	biological process
GO:0048763	calcium-induced calcium release activity	IMP	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015278	calcium-release channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006816	calcium ion transport	IEA	biological process
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0070588	calcium ion transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0015278	calcium-release channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005790	smooth endoplasmic reticulum	TAS	cellular component
GO:0006816	calcium ion transport	TAS	biological process
GO:0033017	sarcoplasmic reticulum membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005245	voltage-gated calcium channel activity	IEA	molecular function
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005790	smooth endoplasmic reticulum	IEA	cellular component
GO:0006816	calcium ion transport	IEA	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0030314	junctional membrane complex	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0002020	protease binding	IEA	molecular function
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0005219	ryanodine-sensitive calcium-release channel activity	IEA	molecular function
GO:0006936	muscle contraction	IEA	biological process
GO:0014808	release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019899	enzyme binding	IEA	molecular function
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0043588	skin development	IEA	biological process
GO:0043931	ossification involved in bone maturation	IEA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IEA	biological process
GO:0071313	cellular response to caffeine	IEA	biological process
GO:0005516	calmodulin binding	ISS	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	ISS	molecular function
GO:0005219	ryanodine-sensitive calcium-release channel activity	TAS	molecular function
GO:0001666	response to hypoxia	IDA	biological process
GO:0006816	calcium ion transport	ISS	biological process
GO:0014802	terminal cisterna	ISS	cellular component
GO:0016529	sarcoplasmic reticulum	ISS	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0014701	junctional sarcoplasmic reticulum membrane	TAS	cellular component
GO:0031000	response to caffeine	ISS	biological process
GO:0051209	release of sequestered calcium ion into cytosol	ISS	biological process
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031674	I band	IDA	cellular component
GO:0005938	cell cortex	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0033017	sarcoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa05017	Spinocerebellar ataxia
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04713	Circadian entrainment
hsa04730	Long-term depression
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Multi-minicore disease	KEGG:H01310
Central core disease	KEGG:H00699
Multi-minicore disease	KEGG:H01310
Central core disease	KEGG:H00699
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq