Version 5.4
Homo sapiens Gene: RYR1
Summary
InnateDB Gene IDBG-48907.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RYR1
Gene Name ryanodine receptor 1 (skeletal)
Synonyms CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
Species Homo sapiens
Ensembl Gene ENSG00000196218
Encoded Proteins
IDBP-48909
ryanodine receptor 1 (skeletal)
IDBP-48911
ryanodine receptor 1 (skeletal)
IDBP-48913
ryanodine receptor 1 (skeletal)
IDBP-759810
IDBP-760566
IDBP-765838
IDBP-760307
IDBP-762166
IDBP-761690
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:38433699-38587564
Strand Forward strand
Band q13.2
Transcripts
ENST00000359596 ENSP00000352608
ENST00000355481 ENSP00000347667
ENST00000360985 ENSP00000354254
ENST00000599547 ENSP00000471601
ENST00000601514 ENSP00000472497
ENST00000594111
ENST00000593322 ENSP00000471404
ENST00000594335 ENSP00000470927
ENST00000596431 ENSP00000470848
ENST00000593677 ENSP00000472126
ENST00000600337
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 16 interaction(s) predicted by orthology.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 16 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0005216 ion channel activity
GO:0005219 ryanodine-sensitive calcium-release channel activity
GO:0005245 voltage-gated calcium channel activity
GO:0005262 calcium channel activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0015278 calcium-release channel activity
GO:0019899 enzyme binding
Biological Process
GO:0001666 response to hypoxia
GO:0003151 outflow tract morphogenesis
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0006936 muscle contraction
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
GO:0031000 response to caffeine
GO:0034220 ion transmembrane transport
GO:0043588 skin development
GO:0043931 ossification involved in bone maturation
GO:0048741 skeletal muscle fiber development
GO:0051209 release of sequestered calcium ion into cytosol
GO:0051480 cytosolic calcium ion homeostasis
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport
GO:0071313 cellular response to caffeine
Cellular Component
GO:0005737 cytoplasm
GO:0005790 smooth endoplasmic reticulum
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005938 cell cortex
GO:0014701 junctional sarcoplasmic reticulum membrane
GO:0014802 terminal cisterna
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016529 sarcoplasmic reticulum
GO:0030314 junctional membrane complex
GO:0030315 T-tubule
GO:0031674 I band
GO:0033017 sarcoplasmic reticulum membrane
GO:0043234 protein complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030592
View Gene Order
ENSBTAG00000006999
Not yet available
Pathways
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_25300
Ion channel transport pathway
KEGG
hsa04730
Long-term depression pathway
hsa04020
Calcium signaling pathway pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.466664
RefSeq NM_000540 NM_001042723 XM_006723317 XM_006723318 XM_006723319
HUGO
OMIM
CCDS CCDS33011 CCDS42563
HPRD 01618
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca