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RYR1
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Transporters
Predicted location
Intracellular, Membrane (different isoforms)
Single cell type specificity
Cell type enhanced (Muller glia cells, Microglial cells, Skeletal myocytes, Astrocytes, Basal squamous epithelial cells)
Immune cell specificity
Group enriched (non-classical monocyte, myeloid DC, intermediate monocyte)
Cell line specificity
Cell line enhanced (A549, HaCaT, hTCEpi, RH-30, SiHa, U-2 OS)
Interaction
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) (By similarity).
Molecular function
Calcium channel, Calmodulin-binding, Developmental protein, Ion channel, Ligand-gated ion channel, Receptor
More Types Infomation
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2b
- Application: ELISA, FC, IF, IHC, WB
- Recombinant Mouse Anti-RYR1 Antibody (34C) (NEUT-1924CQ)
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- Species Reactivity: Human, Mouse, Chicken, Dog, Pig, Rat, Amphibians, Fish, Primate, Rabbit, Sheep, Xenopus laevis, Bovine, Mustelid
- Type: IgG1
- Application: BL, ICC/IF, IHC, IHC-F, IHC-Fr, IP, WB
- Rabbit Anti-RYR1 Polyclonal Antibody (MRO-2173-CN) (MRO-2173-CN)
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- Species Reactivity: Human, Mouse
- Type: Rabbit IgG
- Application: Dot, IHC, FC
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For Research Use Only. Not For Clinical Use.