The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesELISA: Use at an assay dependent dilution.
WB: Use at a concentration of 1 µg/ml for 2hrs. Predicted molecular weight: 559 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionCalcium 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.
Tissue specificitySkeletal muscle and brain (cerebellum and hippocampus).
Involvement in diseaseMalignant 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.
Sequence similaritiesBelongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. Contains 3 B30.2/SPRY domains. Contains 5 MIR domains.
DomainThe 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.
Post-translational modificationsChannel 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.
Cellular localizationSarcoplasmic reticulum membrane. Membrane. The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.