ryanodine receptor 1 (skeletal)

Symbol

RYR1 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
unc-68 Caenorhabditis elegans
Rya-r44F Drosophila melanogaster
ryr1b Danio rerio
Ryr1 Mus musculus
Ryr1 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3374 Gene expression of RYR1 increases with age Molecular skin Human RYR1 —

Changes associated with the orthologs of this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA1930 ryanodine receptor 1, skeletal muscle Molecular Anatomical System Mouse Ryr1 9.0% Decrease Gene Expression Level

GO Terms

GO IDGO TermGO Category
GO:0001666 response to hypoxia biological_process
GO:0003151 outflow tract morphogenesis biological_process
GO:0006811 ion transport biological_process
GO:0006816 calcium ion transport biological_process
GO:0006936 muscle contraction biological_process
GO:0007275 multicellular organismal development biological_process
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum biological_process
GO:0031000 response to caffeine biological_process
GO:0043588 skin development biological_process
GO:0043931 ossification involved in bone maturation biological_process
GO:0048741 skeletal muscle fiber development biological_process
GO:0051209 release of sequestered calcium ion into cytosol biological_process
GO:0051480 cytosolic calcium ion homeostasis biological_process
GO:0051925 regulation of calcium ion transport via voltage-gated calcium channel activity biological_process
GO:0055085 transmembrane transport biological_process
GO:0070588 calcium ion transmembrane transport biological_process
GO:0071313 cellular response to caffeine biological_process
GO:0005624 membrane fraction cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005790 smooth endoplasmic reticulum cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005887 integral to plasma membrane cellular_component
GO:0005938 cell cortex cellular_component
GO:0014701 junctional sarcoplasmic reticulum membrane cellular_component
GO:0014802 terminal cisterna cellular_component
GO:0016529 sarcoplasmic reticulum cellular_component
GO:0030314 junctional membrane complex cellular_component
GO:0030315 T-tubule cellular_component
GO:0031674 I band cellular_component
GO:0033017 sarcoplasmic reticulum membrane cellular_component
GO:0004872 receptor activity molecular_function
GO:0005216 ion channel activity molecular_function
GO:0005219 ryanodine-sensitive calcium-release channel activity molecular_function
GO:0005245 voltage-gated calcium channel activity molecular_function
GO:0005262 calcium channel activity molecular_function
GO:0005509 calcium ion binding molecular_function
GO:0005516 calmodulin binding molecular_function
GO:0015278 calcium-release channel activity molecular_function