FEATURES

FAMILY

DESCRIPTION

Also known as RYR1_RABIT, RYR1. 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:3722165, PubMed:10388749, PubMed:10097181, PubMed:12732639, PubMed:22036948, PubMed:26245150, PubMed:27662087). Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm (By similarity). 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). Homotetramer (PubMed:10097181, PubMed:15908964, PubMed:17027503, PubMed:18621707, PubMed:25470059, PubMed:25517095, PubMed:27662087, PubMed:27573175, PubMed:27468892). Can also form heterotetramers with RYR2 (PubMed:12213830). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1) (By similarity). Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity (PubMed:10601232, PubMed:11562475, PubMed:17027503). Interacts with S100A1 (By similarity). Interacts with FKBP1A; this stabilizes the closed conformation of the channel (PubMed:7669046, PubMed:10603943, PubMed:26245150, PubMed:25517095, PubMed:27468892). Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel (PubMed:10388749). Interacts with CACNB1 (PubMed:21320436). Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity (PubMed:9737879, PubMed:19398037). Interacts with SELENON (PubMed:18713863). Interacts with scorpion calcins (AC P0DPT1; AC P0DM30; AC A0A1L4BJ42; AC P59868; AC P60254; AC B8QG00; AC L0GBR1; AC P60252; AC P60253) (PubMed:27114612).

EXTERNAL LINKS

RYR1

Mutations

Mutation(s) distribution

Mutations table