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| Accession Number: | P21817 |
| Protein Name: | RYR-1 |
| Length: | 5038 |
| Molecular Weight: | 565176.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 6 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | |
Cross database links:
| DIP: | DIP-29708N |
|---|---|
| RefSeq: | NP_000531.2 NP_001036188.1 |
| Entrez Gene ID: | 6261 |
| Pfam: | PF08709 PF00520 PF02815 PF08454 PF06459 PF01365 PF02026 PF00622 |
| OMIM: |
117000 phenotype 145600 phenotype 180901 gene 255320 phenotype |
| KEGG: | hsa:6261 |
Gene Ontology
GO:0005938
C:cell cortex
GO:0031674
C:I band
GO:0005887
C:integral to plasma membrane
GO:0014701
C:junctional sarcoplasmic reticulum membrane
GO:0005790
C:smooth endoplasmic reticulum
GO:0014802
C:terminal cisterna
GO:0005509
F:calcium ion binding
GO:0005516
F:calmodulin binding
GO:0004872
F:receptor activity
GO:0005219
F:ryanodine-sensitive calcium-release channel...
GO:0006936
P:muscle contraction
GO:0051209
P:release of sequestered calcium ion into cyt...
GO:0031000
P:response to caffeine
GO:0001666
P:response to hypoxia
GO:0055085
P:transmembrane transport
| |
References (59)[1] “Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.” Zorzato F.et.al. 2298749 [2] “Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.” Gillard E.F.et.al. 1354642 [3] “A mutation in the human ryanodine receptor gene associated with central core disease.” Zhang Y.et.al. 8220422 [4] “The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.” Phillips M.S.et.al. 8661021 [5] “The DNA sequence and biology of human chromosome 19.” Grimwood J.et.al. 15057824 [6] “Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.” Otsu K.et.al. 1639409 [7] “A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.” Gillard E.F.et.al. 1774074 [8] “Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.” Moroni I.et.al. 7751854 [9] “Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle.” Lynn S.et.al. 7556644 [10] “Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.” Martin C.et.al. 9607712 [11] “Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO.” Sun J.et.al. 11562475 [12] “Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.” Han G.et.al. 18318008 [13] “Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.” Quane K.A.et.al. 8220423 [14] “Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.” Quane K.A.et.al. 7829078 [15] “Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.” Quane K.A.et.al. 8012359 [16] “Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.” Keating K.E.et.al. 7849712 [17] “The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.” Phillips M.S.et.al. 7881417 [18] “Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.” Lynch P.J.et.al. 9066328 [19] “Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.” Quane K.A.et.al. 9389851 [20] “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.” Keating K.E.et.al. 9138151 [21] “Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation.” Manning B.M.et.al. 9497245 [22] “Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.” Manning B.M.et.al. 9450902 [23] “Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.” Brandt A.et.al. 10484775 [24] “Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.” Barone V.et.al. 10051009 [25] “A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca(2+) release channel function and severe central core disease.” Lynch P.J.et.al. 10097181 [26] “Malignant hyperthermia in infancy and identification of novel RYR1 mutation.” Chamley D.et.al. 10823104 [27] “A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.” Brown R.L.et.al. 10888602 [28] “Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.” Gencik M.et.al. 10612851 [29] “A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.” Scacheri P.C.et.al. 11113224 [30] “Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.” Sambuughin N.et.al. 11389482 [31] “North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.” Sambuughin N.et.al. 11575529 [32] “Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.” Monnier N.et.al. 11709545 [33] “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.” Tilgen N.et.al. 11741831 [34] “Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.” Rueffert H.et.al. 11241852 [35] “Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.” Sambuughin N.et.al. 11525881 [36] “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.” Rueffert H.et.al. 12059893 [37] “Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.” Monnier N.et.al. 12411788 [38] “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.” Ferreiro A.et.al. 12112081 [39] “Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.” Davis M.et.al. 12066726 [40] “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.” Galli L.et.al. 12208234 [41] “Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.” McWilliams S.et.al. 12123492 [42] “Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.” Oyamada H.et.al. 11928716 [43] “Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.” Jungbluth H.et.al. 12136074 [44] “Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.” Loke J.C.P.et.al. 12883402 [45] “Central core disease: clinical, pathological, and genetic features.” Quinlivan R.M.et.al. 14670767 [46] “Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.” Romero N.B.et.al. 12937085 [47] “Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.” Tammaro A.et.al. 12709367 [48] “Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.” Zorzato F.et.al. 12566385 [49] “A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.” Monnier N.et.al. 12719381 [50] “Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.” Davis M.R.et.al. 12565913 [51] “Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.” Sei Y.et.al. 15448513 [52] “Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.” Guis S.et.al. 14732627 [53] “RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.” Shepherd S.et.al. 14985404 [54] “Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.” Marchant C.L.et.al. 15221887 [55] “Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.” Monnier N.et.al. 16163667 | |
| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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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