Sequence Detail

ID/Version

E9PZQ0 Q80UQ5 Q62196 Q61780 Q62235 Q78EJ6 Q60834 Q61779 Q80X16 Q99JF9 Q7TNG1 Q62173 (UniProt | EBI)

Last sequence update: 2011-04-05
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Ryanodine receptor 1 {ECO:0000305|PubMed:18003898}; Short=RYR-1; Short=RyR1;AltName: Full=Skeletal muscle calcium release channel;AltName: Full=Skeletal muscle ryanodine receptor;AltName: Full=Skeletal muscle-type ryanodine r

Provider

SWISS-PROT

Sequence

Polypeptide 5035 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Ryr1	ryanodine receptor 1, skeletal muscle	78	128	4	33

Sequence references in MGI

J:18895 Takeshima H, et al., Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene. Nature. 1994 Jun 16;369(6481):556-9
J:23314 Giannini G, et al., The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. J Cell Biol. 1995 Mar;128(5):893-904
J:26886 Takeshima H, et al., Ca(2+)-induced Ca2+ release in myocytes from dyspedic mice lacking the type-1 ryanodine receptor. EMBO J. 1995 Jul 3;14(13):2999-3006
J:111021 Takekura H, et al., Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptor. Proc Natl Acad Sci U S A. 1995 Apr 11;92(8):3381-5
J:127629 Zvaritch E, et al., An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42
J:132211 Bellinger AM, et al., 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
J:168218 Feng W, et al., Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice. Mol Pharmacol. 2011 Mar;79(3):420-31
J:180237 Kakizawa S, et al., Nitric oxide-induced calcium release via ryanodine receptors regulates neuronal function. EMBO J. 2011;31(2):417-28
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89