Version 5.4
Mus musculus Gene: Ryr1
Summary
InnateDB Gene IDBG-165403.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ryr1
Gene Name ryanodine receptor 1, skeletal muscle
Synonyms AI528790; Ryr; RYR-1; skrr
Species Mus musculus
Ensembl Gene ENSMUSG00000030592
Encoded Proteins
IDBP-165405
ryanodine receptor 1, skeletal muscle
IDBP-722260
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000196218:
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 7:29003340-29125151
Strand Reverse strand
Band B1
Transcripts
ENSMUST00000032813 ENSMUSP00000032813
ENSMUST00000179893 ENSMUSP00000137123
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 21 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [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: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:0006937 regulation of muscle contraction
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
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: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:0005938 cell cortex
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000196218
View Gene Order
ENSBTAG00000006999
Not yet available
Pathways
NETPATH
REACTOME
REACT_196640
Stimuli-sensing channels pathway
REACT_262350
Ion channel transport pathway
REACT_253400
Transmembrane transport of small molecules pathway
KEGG
mmu04020
Calcium signaling pathway pathway
mmu04730
Long-term depression pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
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 Mm.414917 Mm.439745
RefSeq NM_009109 XM_006539689 XM_006539692
OMIM
CCDS CCDS39866
HPRD
IMGT
MGI ID
MGI Symbol
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