RYR1 (P21817) - Overview - Molecular Target Synopsis
RYR1, Ryanodine receptor 1
Also Known as RYR1_HUMAN, RYR1, RYDR
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. Homotetramer. Can also form heterotetramers with RYR2 (By similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1) (PubMed:18268335). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1) (PubMed:18268335). Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity (PubMed:18650434). Interacts with S100A1 (PubMed:18650434). Interacts with FKBP1A; this stabilizes the closed conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity. Interacts with SELENON (By similarity). Interacts with scorpion calcins (AC P0DPT1; AC P0DM30; AC A0A1L4BJ42; AC P59868; AC P60254; AC B8QG00; AC L0GBR1; AC P60252; AC P60253).
|Protein Length||Ensembl Gene||Ensembl Transcript||Ensembl Protein||Uniprot Isoform|
UniProt: RYR1 is active in the following subcellular-locations: sarcoplasmic reticulum, sarcoplasmic reticulum membrane.
GO terms: RYR1 is active in the following subcellular-locations: calcium channel complex, cell cortex, cytoplasm, cytoplasmic vesicle membrane, extracellular exosome, I band, integral component of organelle membrane, integral component of plasma membrane, junctional membrane complex, junctional sarcoplasmic reticulum membrane, plasma membrane, ryanodine receptor complex, sarcolemma, sarcoplasmic reticulum, sarcoplasmic reticulum membrane, smooth endoplasmic reticulum, T-tubule, terminal cisterna, Z disc.