RYR1 | Ryanodine receptor 1
 
image/svg+xmlExtracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion None Substrate Localization legend

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Sequence Viewer
Gene
Synonyms
RYDR
Protein Name
Ryanodine receptor 1
UniProt ID
P21817 [go to UniProt ] [go to PDBe-KB ]
Ensembl Gene ID
NCBI Gene ID
Molecular Weight
565176
Protein Length
5038
Protein Domain
Target by Small Molecules
Protein-protein Interaction Database
Gene Expression
Drugs and Diseases
Enzyme Class
-
Catalytic Site
Catalytic Activity
-
Localization
Sarcoplasmic reticulum membrane,Sarcoplasmic reticulum;
Function
Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules (PubMed:11741831, PubMed:16163667). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (PubMed:18268335). Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) 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 (By similarity).
Gene Ontology
GO:0034704; GO:0005938; GO:0005737; GO:0030659; GO:0070062; GO:0031674; GO:0031301; GO:0005887; GO:0030314; GO:0014701; GO:0005886; GO:1990425; GO:0042383; GO:0016529; GO:0033017; GO:0005790; GO:0030315; GO:0014802; GO:0030018; GO:0005524; GO:0005262; GO:0005509; GO:0048763; GO:0015278; GO:0005516; GO:0002020; GO:0005219; GO:0005245; GO:0006816; GO:0071313; GO:0071277; GO:0034220; GO:0006936; GO:0043931; GO:0003151; GO:0051289; GO:1903779; GO:0051480; GO:0051209; GO:0014808; GO:0031000; GO:0001666; GO:0048741; GO:0043588
 
Gene Ontology