ryanodine receptor 1; RYR-1; RyR1; skeletal muscle-type ryanodine receptor; skeletal muscle Ca+2 release channel (RYR1, RYDR)
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Function
- communication between transverse-tubules & sarcoplasmic reticulum
- contraction of skeletal muscle is triggered by release of Ca+2 from SR following depolarization of T-tubules
- mechanically coupled to plasma membrane Ca+2 channel in skeletal muscle
- Ca+2 release channel is modulated by Ca+2, Mg+2, ATP & calmodulin
Structure
- homotetramer (putative)
- belongs to the ryanodine receptor family
- homologous to IP3 receptor sarcoplasmic reticulum Ca+2 release channel
- contains 3 B30.2/SPRY domains
- contains 5 MIR domains
- Ca+2 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 SR & the T-tubule; it is possible that the foot structure interacts with the cytoplasmic region of the dihydropyridine receptor
Compartment
membrane
Alternative splicing
named isoforms=3
Expression
- skeletal muscle & brain (cerebellum & hippocampus)
Pathology
- defects in RYR1 are the cause of
More general terms
Additional terms
References
- ↑ Mignery GA, Sdhof TC. The ligand binding site and transduction mechanism in the inositol-1,4,5-triphosphate receptor. EMBO J. 1990 Dec;9(12):3893-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2174351
- ↑ Taylor CW, Marshall IC. Calcium and inositol 1,4,5-trisphosphate receptors: a complex relationship. Trends Biochem Sci. 1992 Oct;17(10):403-7. Review. Erratum in: Trends Biochem Sci 1992 Dec;17(12):493. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1333657
- ↑ Sorrentino V, Volpe P. Ryanodine receptors: how many, where and why? Trends Pharmacol Sci. 1993 Mar;14(3):98-103. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8387707
- ↑ UniProt http://www.uniprot.org/uniprot/P21817.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RYR1
- ↑ Wikipedia; Note: Ryanodine receptor entry http://en.wikipedia.org/wiki/Ryanodine_receptor
- ↑ Wikipedia; Note: RYR1 entry http://en.wikipedia.org/wiki/RYR1
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6261
- OMIM: https://mirror.omim.org/entry/117000
- OMIM: https://mirror.omim.org/entry/145600
- OMIM: https://mirror.omim.org/entry/180901
- OMIM: https://mirror.omim.org/entry/255320
- UniProt: http://www.uniprot.org/uniprot/P21817.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6261