LOCUS NP_000531 5038 aa linear PRI 25-DEC-2023
DEFINITION ryanodine receptor 1 isoform 1 [Homo sapiens].
ACCESSION NP_000531
VERSION NP_000531.2
DBSOURCE REFSEQ: accession NM_000540.3
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 5038)
AUTHORS Yu KD, Betts MN, Urban GM, Schwartz MLB, Robinson TO, Moyer RJ,
Taddonio SW, Vasudevan A, Johns A, Sturm AC, Kelly MA, Williams MS,
Poler SM and Buchanan AH.
TITLE Evaluation of Malignant Hyperthermia Features in Patients with
Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a
Population Genomic Screening Program
JOURNAL Anesthesiology 140 (1), 52-61 (2024)
PUBMED 37787745
REMARK GeneRIF: Evaluation of Malignant Hyperthermia Features in Patients
with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed
through a Population Genomic Screening Program.
REFERENCE 2 (residues 1 to 5038)
AUTHORS Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T,
Treves S and Zorzato F.
TITLE Functional characterization of RYR1 variants identified in
malignant hyperthermia susceptible individuals
JOURNAL Neuromuscul Disord 33 (12), 951-963 (2023)
PUBMED 37996280
REMARK GeneRIF: Functional characterization of RYR1 variants identified in
malignant hyperthermia susceptible individuals.
REFERENCE 3 (residues 1 to 5038)
AUTHORS Famili DT, Mistry A, Gerasimenko O, Gerasimenko J, Tribe RM, Kyrana
E, Dhawan A, Goldberg MF, Voermans N, Willis T and Jungbluth H.
TITLE Pancreatitis in RYR1-related disorders
JOURNAL Neuromuscul Disord 33 (10), 769-775 (2023)
PUBMED 37783627
REMARK GeneRIF: Pancreatitis in RYR1-related disorders.
REFERENCE 4 (residues 1 to 5038)
AUTHORS Malicdan,M.C.V. and Nishino,I.
TITLE Central Core Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
ONLY
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301565
REFERENCE 5 (residues 1 to 5038)
AUTHORS Beggs,A.H. and Agrawal,P.B.
TITLE Multiminicore Disease - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
ONLY
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301467
REFERENCE 6 (residues 1 to 5038)
AUTHORS DeChene,E.T., Kang,P.B. and Beggs,A.H.
TITLE Congenital Fiber-Type Disproportion - RETIRED CHAPTER, FOR
HISTORICAL REFERENCE ONLY
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301436
REFERENCE 7 (residues 1 to 5038)
AUTHORS Rosenberg,H., Sambuughin,N., Riazi,S. and Dirksen,R.
TITLE Malignant Hyperthermia Susceptibility
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301325
REFERENCE 8 (residues 1 to 5038)
AUTHORS Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt
BA, Worton RG and MacLennan DH.
TITLE Polymorphisms and deduced amino acid substitutions in the coding
sequence of the ryanodine receptor (RYR1) gene in individuals with
malignant hyperthermia
JOURNAL Genomics 13 (4), 1247-1254 (1992)
PUBMED 1354642
REFERENCE 9 (residues 1 to 5038)
AUTHORS Otsu K, Phillips MS, Khanna VK, de Leon S and MacLennan DH.
TITLE Refinement of diagnostic assays for a probable causal mutation for
porcine and human malignant hyperthermia
JOURNAL Genomics 13 (3), 835-837 (1992)
PUBMED 1639409
REFERENCE 10 (residues 1 to 5038)
AUTHORS Jayaraman T, Brillantes AM, Timerman AP, Fleischer S,
Erdjument-Bromage H, Tempst P and Marks AR.
TITLE FK506 binding protein associated with the calcium release channel
(ryanodine receptor)
JOURNAL J Biol Chem 267 (14), 9474-9477 (1992)
PUBMED 1374404
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC011469.6, AC067969.1 and
AC005933.1.
On Aug 25, 2006 this sequence version replaced NP_000531.1.
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, Jul
2008].
Transcript Variant: This variant (1) encodes the longer isoform
(1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: single sample supports all introns SAMEA2158800,
SAMEA2162946 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000359596.8/ ENSP00000352608.2
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..5038
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.2"
Protein 1..5038
/product="ryanodine receptor 1 isoform 1"
/note="sarcoplasmic reticulum calcium release channel;
central core disease of muscle; protein phosphatase 1,
regulatory subunit 137; skeletal muscle ryanodine
receptor; type 1-like ryanodine receptor; skeletal muscle
calcium release channel; ryanodine receptor 1 (skeletal)"
/calculated_mol_wt=565047
Region 8..209
/region_name="Ins145_P3_rec"
/note="Inositol 1,4,5-trisphosphate/ryanodine receptor;
cl19745"
/db_xref="CDD:450353"
Region 211..389
/region_name="MIR"
/note="MIR domain; pfam02815"
/db_xref="CDD:397103"
Region 444..634
/region_name="RYDR_ITPR"
/note="RIH domain; pfam01365"
/db_xref="CDD:426222"
Region 642..793
/region_name="SPRY1_RyR"
/note="SPRY domain 1 (SPRY1) of ryanodine receptor (RyR);
cd12877"
/db_xref="CDD:240457"
Region 669..680
/region_name="Interaction with FKBP1A.
/evidence=ECO:0000250|UniProtKB:P11716"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 841..2959
/region_name="6 X approximate repeats"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 850..940
/region_name="RyR"
/note="RyR domain; pfam02026"
/db_xref="CDD:426570"
Region 964..1054
/region_name="RyR"
/note="RyR domain; pfam02026"
/db_xref="CDD:426570"
Region 1072..1204
/region_name="SPRY2_RyR"
/note="SPRY domain 2 (SPRY2) of ryanodine receptor (RyR);
cd12878"
/db_xref="CDD:240458"
Region 1307..1385
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 1337
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Region 1418..1566
/region_name="SPRY3_RyR"
/note="SPRY domain 3 (SPRY3) of ryanodine receptor (RyR);
cd12879"
/db_xref="CDD:293937"
Region 1867..1923
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 2161..2369
/region_name="RYDR_ITPR"
/note="RIH domain; pfam01365"
/db_xref="CDD:426222"
Site 2345
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Region 2391..2412
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 2735..2825
/region_name="RyR"
/note="RyR domain; pfam02026"
/db_xref="CDD:426570"
Region 2828..2858
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 2843
/site_type="phosphorylation"
/note="Phosphoserine, by PKA and PKG.
/evidence=ECO:0000250|UniProtKB:E9PZQ0; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Region 2855..2939
/region_name="RyR"
/note="RyR domain; pfam02026"
/db_xref="CDD:426570"
Region 3478..3501
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 3614..3643
/region_name="Interaction with CALM.
/evidence=ECO:0000269|PubMed:18650434"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 3876..3992
/region_name="RIH_assoc"
/note="RyR and IP3R Homology associated; pfam08454"
/db_xref="CDD:430005"
Region 4251..4280
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 4382..4671
/region_name="RR_TM4-6"
/note="Ryanodine Receptor TM 4-6; pfam06459"
/db_xref="CDD:428952"
Region 4382..4538
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4467
/site_type="phosphorylation"
/note="Phosphothreonine.
/evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Site 4471
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:F1LMY4; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Site 4560..4580
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 4589..4621
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4642..4662
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Region 4765..4949
/region_name="Ion_trans"
/note="Ion transport protein; pfam00520"
/db_xref="CDD:425730"
Site 4781..4803
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4805..4821
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4837..4857
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4864
/site_type="phosphorylation"
/note="Phosphotyrosine.
/evidence=ECO:0007744|PubMed:18318008; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Site 4867
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:18318008; propagated from
UniProtKB/Swiss-Prot (P21817.3)"
Region 4895..4901
/region_name="Selectivity filter.
/evidence=ECO:0000250|UniProtKB:P11716"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
Site 4921..4941
/site_type="transmembrane region"
/note="propagated from UniProtKB/Swiss-Prot (P21817.3)"
CDS 1..5038
/gene="RYR1"
/gene_synonym="CCO; CMYP1A; CMYP1B; KDS; MHS; MHS1;
PPP1R137; RYDR; RYR; RYR-1; SKRR"
/coded_by="NM_000540.3:140..15256"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS33011.1"
/db_xref="GeneID:6261"
/db_xref="HGNC:HGNC:10483"
/db_xref="MIM:180901"
ORIGIN
1 mgdaegedev qflrtddevv lqcsatvlke qlklclaaeg fgnrlcflep tsnaqnvppd
61 laiccfvleq slsvralqem lantveagve ssqggghrtl lyghaillrh ahsrmylscl
121 ttsrsmtdkl afdvglqeda tgeacwwtmh paskqrsege kvrvgddiil vsvsserylh
181 lstasgelqv dasfmqtlwn mnpicsrcee gfvtgghvlr lfhghmdecl tispadsddq
241 rrlvyyegga vctharslwr leplriswsg shlrwgqplr vrhvttgqyl altedqglvv
301 vdaskahtka tsfcfriske kldvapkrdv egmgppeiky geslcfvqhv asglwltyaa
361 pdpkalrlgv lkkkamlhqe ghmddalslt rcqqeesqaa rmihstngly nqfiksldsf
421 sgkprgsgpp agtalpiegv ilslqdliiy feppsedlqh eekqsklrsl rnrqslfqee
481 gmlsmvlnci drlnvyttaa hfaefageea aeswkeivnl lyellaslir gnrsncalfs
541 tnldwlvskl drleassgil evlycvlies pevlniiqen hiksiislld khgrnhkvld
601 vlcslcvcng vavrsnqdli tenllpgrel llqtnlinyv tsirpnifvg raegttqysk
661 wyfevmvdev tpfltaqath lrvgwalteg ytpypgageg wggngvgddl ysygfdglhl
721 wtghvarpvt spgqhllape dvisccldls vpsisfring cpvqgvfesf nldglffpvv
781 sfsagvkvrf llggrhgefk flpppgyapc heavlprerl hlepikeyrr egprgphlvg
841 psrclshtdf vpcpvdtvqi vlpphlerir eklaenihel waltrieqgw tygpvrddnk
901 rlhpclvdfh slpepernyn lqmsgetlkt llalgchvgm adekaednlk ktklpktymm
961 sngykpapld lshvrltpaq ttlvdrlaen ghnvwardrv gqgwsysavq diparrnprl
1021 vpyrlldeat krsnrdslcq avrtllgygy nieppdqeps qvenqsrcdr vrifraeksy
1081 tvqsgrwyfe feavttgemr vgwarpelrp dvelgadela yvfnghrgqr whlgsepfgr
1141 pwqpgdvvgc midltentii ftlngevlms dsgsetafre ieigdgflpv cslgpgqvgh
1201 lnlgqdvssl rffaicglqe gfepfainmq rpvttwfskg lpqfepvple hphyevsrvd
1261 gtvdtppclr lthrtwgsqn slvemlflrl slpvqfhqhf rctagatpla ppglqppaed
1321 earaaepdpd yenlrrsagg wseaengkeg takegapggt pqaggeaqpa raenekdatt
1381 eknkkrgflf kakkvammtq ppatptlprl phdvvpadnr ddpeiilntt tyyysvrvfa
1441 gqepscvwag wvtpdyhqhd msfdlskvrv vtvtmgdeqg nvhsslkcsn cymvwggdfv
1501 spgqqgrish tdlvigclvd latglmtfta ngkesntffq vepntklfpa vfvlpthqnv
1561 iqfelgkqkn implsaamfq serknpapqc pprlemqmlm pvswsrmpnh flqvetrrag
1621 erlgwavqcq epltmmalhi peenrcmdil elserldlqr fhshtlrlyr avcalgnnrv
1681 ahalcshvdq aqllhaleda hlpgplragy ydllisihle sacrsrrsml seyivpltpe
1741 traitlfppg rstenghprh glpgvgvtts lrpphhfspp cfvaalpaag aaeaparlsp
1801 aiplealrdk alrmlgeavr dggqhardpv ggsvefqfvp vlklvstllv mgifgdedvk
1861 qilkmiepev fteeeeeede eeegeeedee ekeedeeeta qekedeekee eeaaegekee
1921 gleegllqmk lpesvklqmc hlleyfcdqe lqhrveslaa faeryvdklq anqrsrygll
1981 ikafsmtaae tarrtrefrs ppqeqinmll qfkdgtdeed cplpeeirqd lldfhqdlla
2041 hcgiqldgee eepeeettlg srlmsllekv rlvkkkeekp eeersaeesk prslqelvsh
2101 mvvrwaqedf vqspelvram fsllhrqydg lgellralpr aytispssve dtmslleclg
2161 qirsllivqm gpqeenlmiq signimnnkv fyqhpnlmra lgmhetvmev mvnvlggges
2221 keirfpkmvt sccrflcyfc risrqnqrsm fdhlsyllen sgiglgmqgs tpldvaaasv
2281 idnnelalal qeqdlekvvs ylagcglqsc pmlvakgypd igwnpcgger yldflrfavf
2341 vngesveena nvvvrllirk pecfgpalrg eggsgllaai eeairisedp ardgpgirrd
2401 rrrehfgeep peenrvhlgh aimsfyaali dllgrcapem hliqagkgea lrirailrsl
2461 vpledlvgii slplqiptlg kdgalvqpkm sasfvpdhka smvlfldrvy gienqdfllh
2521 vldvgflpdm raaasldtat fsttemalal nrylclavlp litkcaplfa gtehraimvd
2581 smlhtvyrls rgrsltkaqr dviedclmsl cryirpsmlq hllrrlvfdv pilnefakmp
2641 lklltnhyer cwkyyclptg wanfgvtsee elhltrklfw gifdslahkk ydpelyrmam
2701 pclcaiagal ppdyvdasys skaekkatvd aegnfdprpv etlnviipek ldsfinkfae
2761 ythekwafdk iqnnwsygen ideelkthpm lrpyktfsek dkeiyrwpik eslkamiawe
2821 wtiekarege eektekkktr kisqsaqtyd pregynpqpp dlsavtlsre lqamaeqlae
2881 nyhntwgrkk kqeleakggg thpllvpydt ltakekardr ekaqellkfl qmngyavtrg
2941 lkdmeldsss iekrfafgfl qqllrwmdis qefiahleav vssgrveksp heqeikffak
3001 illplinqyf tnhclyflst pakvlgsggh asnkekemit slfcklaalv rhrvslfgtd
3061 apavvnclhi larsldartv mksgpeivka glrsffesas ediekmvenl rlgkvsqart
3121 qvkgvgqnlt yttvallpvl ttlfqhiaqh qfgddvildd vqvscyrtlc siyslgttkn
3181 tyveklrpal geclarlaaa mpvaflepql neynacsvyt tksprerail glpnsveemc
3241 pdipvlerlm adigglaesg arytemphvi eitlpmlcsy lprwwergpe appsalpaga
3301 pppctavtsd hlnsllgnil riivnnlgid easwmkrlav faqpivsrar pellqshfip
3361 tigrlrkrag kvvseeeqlr leakaeaqeg ellvrdefsv lcrdlyalyp lliryvdnnr
3421 aqwltepnps aeelfrmvge ifiywskshn fkreeqnfvv qneinnmsfl tadnkskmak
3481 agdiqsggsd qertkkkrrg drysvqtsli vatlkkmlpi glnmcaptdq dlitlaktry
3541 alkdtdeevr eflhnnlhlq gkvegspslr wqmalyrgvp greedaddpe kivrrvqevs
3601 avlyyldqte hpykskkavw hkllskqrrr avvacfrmtp lynlpthrac nmflesykaa
3661 wiltedhsfe drmiddlska geqeeeeeev eekkpdplhq lvlhfsrtal tekskldedy
3721 lymayadima kschleegge ngeaeeevev sfeekqmekq rllyqqarlh trgaaemvlq
3781 misackgetg amvsstlklg isilnggnae vqqkmldylk dkkevgffqs iqalmqtcsv
3841 ldlnaferqn kaeglgmvne dgtvinrqng ekvmaddeft qdlfrflqll ceghnndfqn
3901 ylrtqtgntt tiniiictvd yllrlqesis dfywyysgkd vieeqgkrnf skamsvakqv
3961 fnslteyiqg pctgnqqsla hsrlwdavvg flhvfahmmm klaqdssqie llkelldlqk
4021 dmvvmllsll egnvvngmia rqmvdmlves ssnvemilkf fdmflklkdi vgseafqdyv
4081 tdprgliskk dfqkamdsqk qfsgpeiqfl lscseadene minceefanr fqepardigf
4141 nvavlltnls ehvphdprlh nflelaesil eyfrpylgri eimgasrrie riyfeisetn
4201 raqwempqvk eskrqfifdv vneggeaekm elfvsfcedt ifemqiaaqi sepegepetd
4261 edegagaaea gaegaeegaa glegtaataa agatarvvaa agralrglsy rslrrrvrrl
4321 rrltareaat avaallwaav tragaagaga aagalgllwg slfggglveg akkvtvtell
4381 agmpdptsde vhgeqpagpg gdadgegase gagdaaegag deeeavheag pggadgavav
4441 tdggpfrpeg agglgdmgdt tpaepptpeg spilkrklgv dgveeelppe pepepepele
4501 pekadaenge keevpeptpe ppkkqappsp ppkkeeagge fwgelevqrv kflnylsrnf
4561 ytlrflalfl afainfillf ykvsdsppge ddmegsaagd vsgagsggss gwglgageea
4621 egdedenmvy yfleestgym epalrclsll htlvaflcii gynclkvplv ifkrekelar
4681 klefdglyit eqpedddvkg qwdrlvlntp sfpsnywdkf vkrkvldkhg diygreriae
4741 llgmdlatle itahnerkpn pppglltwlm sidvkyqiwk fgviftdnsf lylgwymvms
4801 llghynnfff aahlldiamg vktlrtilss vthngkqlvm tvgllavvvy lytvvafnff
4861 rkfynksede depdmkcddm mtcylfhmyv gvragggigd eiedpagdey elyrvvfdit
4921 ffffvivill aiiqgliida fgelrdqqeq vkedmetkcf icgigsdyfd ttphgfetht
4981 leehnlanym fflmylinkd etehtgqesy vwkmyqercw dffpagdcfr kqyedqls
//
