Ryanodine receptor 1 (RYR1) Recombinant Protein | RYR1 recombinant protein

Recombinant Human Ryanodine receptor 1 (RYR1), partial

Cat. Num. AAA113834

• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Ryanodine receptor 1 (RYR1); N/A; Recombinant Human Ryanodine receptor 1 (RYR1), partial; Skeletal muscle calcium release channel; Skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; Type 1 ryanodine receptor; RYR1 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-534aa; partial
• Sequence: MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQSLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDATGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEEGFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLRVRHVTTGQYLALTEDQGLVVVDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHVASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSFSGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCIDRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRS

• Preparation and Storage: Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C.

SDS-PAGE

Related Product Information for RYR1 recombinant protein

Calcium channel that mediates the release of Ca2+ 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 Ca2+ leaking into the cytoplasm. Can also mediate the release of Ca2+ from intracellular stores in neurons, and may thereby promote prolonged Ca2+ 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.

Product Categories/Family for RYR1 recombinant protein

Transport

References

Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum.Zorzato F., Fujii J., Otsu K., Phillips M.S., Green N.M., Lai F.A., Meissner G., Maclennan D.H.J. Biol. Chem. 265:2244-2256(1990) Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Duff C.L., de Leon S., Khanna V.K., Britt B.A., Worton R.G., McLennan D.H.Genomics 13:1247-1254(1992) A mutation in the human ryanodine receptor gene associated with central core disease.Zhang Y., Chen H.S., Khanna V.K., de Leon S., Phillips M.S., Schappert K.T., Britt B.A., Brownell A.K.W., McLennan D.H.Nat. Genet. 5:46-50(1993) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.Phillips M.S., Fujii J., Khanna V.K., de Leon S., Yokobata K., de Jong P.J., McLennan D.H.Genomics 34:24-41(1996) The DNA sequence and biology of human chromosome 19.Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., 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.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., 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 S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., 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 T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.Nature 428:529-535(2004) Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.Otsu K., Phillips M.S., Khanna V.K., de Leon S., McLennan D.H.Genomics 13:835-837(1992) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.Gillard E.F., Otsu K., Fujii J., Khanna V.K., de Leon S., Derdemezi J., Britt B.A., Duff C.L., Worton R.G., MacLennan D.H.Genomics 11:751-755(1991) Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Moroni I., Gonano E.F., Comi G.P., Tegazzin V., Prelle A., Bordoni A., Bresolin N., Scarlato G.J. 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Chem. 283:26676-26683(2008) Remodeling of ryanodine receptor complex causes 'leaky' channels a molecular mechanism for decreased exercise capacity.Bellinger A.M., Reiken S., Dura M., Murphy P.W., Deng S.X., Landry D.W., Nieman D., Lehnart S.E., Samaru M., LaCampagne A., Marks A.R.Proc. Natl. Acad. Sci. U.S.A. 105:2198-2202(2008) Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.Proteomics 8:1346-1361(2008) Ryanodine receptors structure, expression, molecular details, and function in calcium release.Lanner J.T., Georgiou D.K., Joshi A.D., Hamilton S.L.Cold Spring Harb. Perspect. Biol. 2:E3996-E3996(2010) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.Bohm J., Leshinsky-Silver E., Vassilopoulos S., Le Gras S., Lerman-Sagie T., Ginzberg M., Jost B., Lev D., Laporte J.Acta Neuropathol. 124:575-581(2012) Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.Quane K.A., Healy J.M.S., Keating K.E., Manning B.M., Couch F.J., Palmucci L.M., Doriguzzi C., Fagerlund T.H., Berg K., Ording H., Bendixen D., Mortier W., Linz U., Muller C.R., McCarthy T.V.Nat. 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Genet. 3:1855-1858(1994) The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.Phillips M.S., Khanna V.K., de Leon S., Frodis W., Britt B.A., McLennan D.H.Hum. Mol. Genet. 3:2181-2186(1994) Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.Lynch P.J., Krivosic-Horber R., Reyford H., Monnier N., Quane K.A., Adnet P., Haudecoeur G., Krivosic I., McCarthy T.V., Lunardi J.Anesthesiology 86:620-626(1997) Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.Quane K.A., Ording H., Keating K.E., Manning B.M., Heine R., Bendixen D., Berg K., Krivosic-Horber R., Lehmann-Horn F., Fagerlund T.H., McCarthy T.V.Br. J. 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Genet. 62:599-609(1998) Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.Manning B.M., Quane K.A., Lynch P.J., Urwyler A., Tegazzin V., Krivosic-Horber R., Censier K., Comi G.P., Adnet P., Wolz W., Lunardi J., Muller C.R., McCarthy T.V.3.3.CO;2-H>Hum. Mutat. 11:45-50(1998) Screening of the ryanodine receptor gene in 105 malignant hyperthermia families novel mutations and concordance with the in vitro contracture test.Brandt A., Schleithoff L., Jurkat-Rott K., Klingler W., Baur C., Lehmann-Horn F.Hum. Mol. Genet. 8:2055-2062(1999) Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.Barone V., Massa O., Intravaia E., Bracco A., Di Martino A., Tegazzin V., Cozzolino S., Sorrentino V.J. Med. Genet. 36:115-118(1999) 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., Tong J., Lehane M., Mallet A., Giblin L., Heffron J.J.A., Vaughan P., Zafra G., MacLennan D.H., McCarthy T.V.Proc. Natl. Acad. Sci. U.S.A. 96:4164-4169(1999) Malignant hyperthermia in infancy and identification of novel RYR1 mutation.Chamley D., Pollock N.A., Stowell K.M., Brown R.L.Br. J. Anaesth. 84:500-504(2000) A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.Brown R.L., Pollock A.N., Couchman K.G., Hodges M., Hutchinson D.O., Waaka R., Lynch P., McCarthy T.V., Stowell K.M.Hum. Mol. Genet. 9:1515-1524(2000) Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia.Gencik M., Gencik A., Mortier W., Epplen J.T.3.0.CO;2-A>Hum. Mutat. 15:122-122(2000) A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.Scacheri P.C., Hoffman E.P., Fratkin J.D., Semino-Mora C., Senchak A., Davis M.R., Laing N.G., Vedanarayanan V., Subramony S.H.Neurology 55:1689-1696(2000) Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.Sambuughin N., McWilliams S., de Bantel A., Sivakumar K., Nelson T.E.Am. J. Hum. Genet. 69:204-208(2001) North American malignant hyperthermia population screening of the ryanodine receptor gene and identification of novel mutations.Sambuughin N., Sei Y., Gallagher K.L., Wyre H.W., Madsen D., Nelson T.E., Fletcher J.E., Rosenberg H., Muldoon S.M.Anesthesiology 95:594-599(2001) 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., Romero N.B., Lerale J., Landrieu P., Nivoche Y., Fardeau M., Lunardi J.Hum. Mol. Genet. 10:2581-2592(2001) 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., Zorzato F., Halliger-Keller B., Muntoni F., Sewry C., Palmucci L.M., Schneider C., Hauser E., Lehmann-Horn F., Mueller C.R., Treves S.Hum. Mol. Genet. 10:2879-2887(2001) Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia.Rueffert H., Kraus H., Olthoff D., Deutrich C., Froster U.G.Hum. Mutat. 17:238-238(2001) Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.Sambuughin N., Nelson T.E., Jankovic J., Xin C., Meissner G., Mullakandov M., Ji J., Rosenberg H., Sivakumar K., Goldfarb L.G.Neuromuscul. Disord. 11:530-537(2001) 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., Olthoff D., Deutrich C., Meinecke C.D., Froster U.G.Acta Anaesthesiol. Scand. 46:692-698(2002) Presence of two different genetic traits in malignant hyperthermia families implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.Monnier N., Krivosic-Horber R., Payen J.-F., Kozak-Ribbens G., Nivoche Y., Adnet P., Reyford H., Lunardi J.Anesthesiology 97:1067-1074(2002) 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., Monnier N., Romero N.B., Leroy J.-P., Boennemann C., Haenggeli C.-A., Straub V., Voss W.D., Nivoche Y., Jungbluth H., Lemainque A., Voit T., Lunardi J., Fardeau M., Guicheney P.Ann. Neurol. 51:750-759(2002) Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.Davis M., Brown R., Dickson A., Horton H., James D., Laing N., Marston R., Norgate M., Perlman D., Pollock N., Stowell K.Br. J. Anaesth. 88:508-515(2002) 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., Orrico A., Cozzolino S., Pietrini V., Tegazzin V., Sorrentino V.Cell Calcium 32:143-151(2002) Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.McWilliams S., Nelson T., Sudo R.T., Zapata-Sudo G., Batti M., Sambuughin N.Clin. Genet. 62:80-83(2002) Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.Oyamada H., Oguchi K., Saitoh N., Yamazawa T., Hirose K., Kawana Y., Wakatsuki K., Oguchi K., Tagami M., Hanaoka K., Endo M., Iino M.Jpn. J. Pharmacol. 88:159-166(2002) Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.Jungbluth H., Muller C.R., Halliger-Keller B., Brockington M., Brown S.C., Feng L., Chattopadhyay A., Mercuri E., Manzur A.Y., Ferreiro A., Laing N.G., Davis M.R., Roper H.P., Dubowitz V., Bydder G., Sewry C.A., Muntoni F.Neurology 59:284-287(2002) 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., Kraev N., Sharma P., Du G., Patel L., Kraev A., MacLennan D.H.Anesthesiology 99:297-302(2003) Central core disease clinical, pathological, and genetic features.Quinlivan R.M., Muller C.R., Davis M., Laing N.G., Evans G.A., Dwyer J., Dove J., Roberts A.P., Sewry C.A.Arch. Dis. Child. 88:1051-1055(2003) Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.Romero N.B., Monnier N., Viollet L., Cortey A., Chevallay M., Leroy J.P., Lunardi J., Fardeau M.Brain 126:2341-2349(2003) Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC detection of three novel malignant hyperthermia alleles.Tammaro A., Bracco A., Cozzolino S., Esposito M., Di Martino A., Savoia G., Zeuli L., Piluso G., Aurino S., Nigro V.Clin. Chem. 49:761-768(2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.Zorzato F., Yamaguchi N., Xu L., Meissner G., Mueller C.R., Pouliquin P., Muntoni F., Sewry C., Girard T., Treves S.Hum. Mol. Genet. 12:379-388(2003) A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.Monnier N., Ferreiro A., Marty I., Labarre-Vila A., Mezin P., Lunardi J.Hum. Mol. Genet. 12:1171-1178(2003) Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.Davis M.R., Haan E., Jungbluth H., Sewry C., North K., Muntoni F., Kuntzer T., Lamont P., Bankier A., Tomlinson P., Sanchez A., Walsh P., Nagarajan L., Oley C., Colley A., Gedeon A., Quinlivan R., Dixon J., James D., Mueller C.R., Laing N.G.Neuromuscul. Disord. 13:151-157(2003) Malignant hyperthermia in North America genetic screening of the three hot spots in the type I ryanodine receptor gene.Sei Y., Sambuughin N.N., Davis E.J., Sachs D., Cuenca P.B., Brandom B.W., Tautz T., Rosenberg H., Nelson T.E., Muldoon S.M.Anesthesiology 101:824-830(2004) Multiminicore disease in a family susceptible to malignant hyperthermia histology, in vitro contracture tests, and genetic characterization.Guis S., Figarella-Branger D., Monnier N., Bendahan D., Kozak-Ribbens G., Mattei J.-P., Lunardi J., Cozzone P.J., Pellissier J.-F.Arch. Neurol. 61:106-113(2004) RYR1 mutations in UK central core disease patients more than just the C-terminal transmembrane region of the RYR1 gene.Shepherd S., Ellis F., Halsall J., Hopkins P., Robinson R.J. Med. Genet. 41:E33-E33(2004) Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.Marchant C.L., Ellis F.R., Halsall P.J., Hopkins P.M., Robinson R.L.Muscle Nerve 30:114-117(2004) Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.Monnier N., Kozak-Ribbens G., Krivosic-Horber R., Nivoche Y., Qi D., Kraev N., Loke J., Sharma P., Tegazzin V., Figarella-Branger D., Romero N., Mezin P., Bendahan D., Payen J.-F., Depret T., Maclennan D.H., Lunardi J.Hum. Mutat. 26:413-425(2005) Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.Jungbluth H., Zhou H., Hartley L., Halliger-Keller B., Messina S., Longman C., Brockington M., Robb S.A., Straub V., Voit T., Swash M., Ferreiro A., Bydder G., Sewry C.A., Mueller C., Muntoni F.Neurology 65:1930-1935(2005) Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.Gambelli S., Malandrini A., Berti G., Gaudiano C., Zicari E., Brunori P., Perticoni G., Orrico A., Galli L., Sorrentino V., Lunardi J., Federico A., Dotti M.T.Clin. Genet. 71:93-94(2007) Central core disease due to recessive mutations in RYR1 gene is it more common than described?Kossugue P.M., Paim J.F., Navarro M.M., Silva H.C., Pavanello R.C.M., Gurgel-Giannetti J., Zatz M., Vainzof M.Muscle Nerve 35:670-674(2007) Novel RYR1 missense mutation causes core rod myopathy.von der Hagen M., Kress W., Hahn G., Brocke K.S., Mitzscherling P., Huebner A., Muller-Reible C., Stoltenburg-Didinger G., Kaindl A.M.Eur. J. Neurol. 15:E31-E32(2008) Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.Monnier N., Marty I., Faure J., Castiglioni C., Desnuelle C., Sacconi S., Estournet B., Ferreiro A., Romero N., Laquerriere A., Lazaro L., Martin J.-J., Morava E., Rossi A., Van der Kooi A., de Visser M., Verschuuren C., Lunardi J.Hum. Mutat. 29:670-678(2008) Increasing the number of diagnostic mutations in malignant hyperthermia.Levano S., Vukcevic M., Singer M., Matter A., Treves S., Urwyler A., Girard T.Hum. Mutat. 30:590-598(2009) Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.Vukcevic M., Broman M., Islander G., Bodelsson M., Ranklev-Twetman E., Muller C.R., Treves S.Anesth. Analg. 111:185-190(2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.Clarke N.F., Waddell L.B., Cooper S.T., Perry M., Smith R.L.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., North K.N.Hum. Mutat. 31:E1544-E1550(2010) Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.Tammaro A., Di Martino A., Bracco A., Cozzolino S., Savoia G., Andria B., Cannavo A., Spagnuolo M., Piluso G., Aurino S., Nigro V.Clin. Genet. 79:438-447(2011) Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.Duarte S.T., Oliveira J., Santos R., Pereira P., Barroso C., Conceicao I., Evangelista T.Muscle Nerve 44:102-108(2011) Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.Kim J.H., Jarvik G.P., Browning B.L., Rajagopalan R., Gordon A.S., Rieder M.J., Robertson P.D., Nickerson D.A., Fisher N.A., Hopkins P.M.Anesthesiology 119:1054-1065(2013) Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.Brandom B.W., Bina S., Wong C.A., Wallace T., Visoiu M., Isackson P.J., Vladutiu G.D., Sambuughin N., Muldoon S.M.Anesth. Analg. 116:1078-1086(2013) Novel RYR1 missense mutations in six Chinese patients with central core disease.Gu M., Zhang S., Hu J., Yuan Y., Wang Z., Da Y., Wu S.Neurosci. Lett. 566:32-35(2014) +Additional computationally mapped references.<p>Provides general information on the entry.

NCBI and Uniprot Product Information

• NCBI GI #: 113204615
• NCBI GeneID: 6261
• NCBI Accession #: NP_000531.2
• NCBI GenBank Nucleotide #: NM_000540.2
• UniProt Accession #: P21817; Q16314; Q16368; Q9NPK1; Q9P1U4
• Molecular Weight: 63.3 kDa
• NCBI Official Full Name: ryanodine receptor 1 isoform 1
• UniProt Protein Name: Ryanodine receptor 1
• UniProt Gene Name: RYR1
• UniProt Synonym Gene Names: RYDR; RYR-1; RyR1
• UniProt Entry Name: RYR1_HUMAN