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Gene: RYR1 (ryanodine receptor 1) Homo sapiens
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Symbol: RYR1
Name: ryanodine receptor 1
Description: Exhibits calcium-induced calcium release activity and ryanodine-sensitive calcium-release channel activity. Involved in cellular response to caffeine; release of sequestered calcium ion into cytosol; and response to hypoxia. Localizes to several cellular components, including the I band; cell cortex; and sarcoplasmic reticulum membrane. Implicated in central core myopathy and malignant hyperthermia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCO; central core disease of muscle; MHS; MHS1; PPP1R137; ryanodine receptor 1 (skeletal); ryanodine receptor type1; RYDR; RYR; RYR-1; sarcoplasmic reticulum calcium release channel; skeletal muscle calcium release channel; skeletal muscle ryanodine receptor; skeletal muscle-type ryanodine receptor; SKRR; type 1 ryanodine receptor; type 1-like ryanodine receptor
Orthologs:
Mus musculus (house mouse) : Ryr1 (ryanodine receptor 1, skeletal muscle)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ryr1 (ryanodine receptor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ryr1 (ryanodine receptor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : RYR1 (ryanodine receptor 1)
Canis lupus familiaris (dog) : RYR1 (ryanodine receptor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ryr1 (ryanodine receptor 1)
Sus scrofa (pig) : RYR1 (ryanodine receptor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381938,433,691 - 38,587,564 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371938,924,340 - 39,078,204 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361943,616,180 - 43,770,044 (+)NCBINCBI36hg18NCBI36
Build 341943,616,179 - 43,770,012NCBI
Celera1935,726,452 - 35,880,238 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1935,371,495 - 35,526,332 (+)NCBIHuRef
CHM1_11938,924,701 - 39,079,134 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model