機能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. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. 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.
組織特異性Skeletal muscle and brain (cerebellum and hippocampus).
関連疾患Malignant hyperthermia 1 Central core disease of muscle Multiminicore disease with external ophthalmoplegia Myopathy, congenital, with fiber-type disproportion Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status constantly improves and patients are minimally affected at adulthood.
配列類似性Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. Contains 3 B30.2/SPRY domains. Contains 5 MIR domains.
ドメインThe calcium release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the 'foot' structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule.
翻訳後修飾Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843. Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation.
細胞内局在Sarcoplasmic reticulum membrane. Membrane. The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.
Immunohistochemistry (Frozen sections) - Anti-Ryanodine Receptor antibody (ab90629)This image is courtesy of an anonymous Abreview
ab90629 staining Ryanodine Receptor in frozen horse skeletal muscle tissue sections by Immunohistochemistry (Frozen sections).
Tissue was fixed with acetone and blocked with 10% serum for 1 hour. Samples were incubated with primary antibody (1/100 in diluent) for 12 hours at 4°C. An FITC-conjugated goat anti-rabbit polyclonal IgG (1/200) was used as the secondary antibody.