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RYR1 ryanodine receptor 1 (skeletal) [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000540 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. Full Length Quote
ORF Sequence Quote
NM_001042723 Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 2, mRNA. Full Length Quote
ORF Sequence Quote


Gene Symbol RYR1
Entrez Gene ID 6261
Full Name ryanodine receptor 1 (skeletal)
Synonyms CCO, MHS, MHS1, RYDR, RYR, SKRR
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.1
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].
Disorder

MIM: 180901

{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core
mRNA NM_000540, 113204614
Protein NP_000531, 113204615
Product ryanodine receptor 1 isoform 1
RefSeq Status REVIEWED
mRNA NM_001042723, 113204616
Protein NP_001036188, 113204617
Product ryanodine receptor 1 isoform 2
RefSeq Status REVIEWED
KEGG
hsa04020Calcium signaling pathway
hsa04730Long-term depression
WikiPathways
WP536Calcium Regulation in the Cardiac Cell
WP289Myometrial Relaxation and Contraction Pathways
Homo sapiens (human)RYR1NP_000531.2
Mus musculus (house mouse)Ryr1NP_033135.2
Rattus norvegicus (Norway rat)LOC686059XP_574411.2
Danio rerio (zebrafish)ryr1bNP_001096041.1
Process
IDNameEvidence
GO:0001666response to hypoxiaIDA
GO:0006811ion transportIEA
GO:0006816calcium ion transportISS
GO:0006936muscle contractionTAS
GO:0031000response to caffeineISS
GO:0051209release of sequestered calcium ion into cytosolISS
GO:0051480cytosolic calcium ion homeostasisISS
GO:0055085transmembrane transportIEA
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005790smooth endoplasmic reticulumTAS
GO:0005886plasma membraneIDA
GO:0005887integral to plasma membraneTAS
GO:0005938cell cortexIDA
GO:0014701junctional sarcoplasmic reticulum membraneTAS
GO:0014802terminal cisternaISS
GO:0016529sarcoplasmic reticulumISS
GO:0031674I bandIDA
Function
IDNameEvidence
GO:0004872receptor activityIEA
GO:0005216ion channel activityIEA
GO:0005219ryanodine-sensitive calcium-release channel activityISS
GO:0005219ryanodine-sensitive calcium-release channel activityTAS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0005516calmodulin bindingISS
GO:0015278calcium-release channel activityTAS
GeneCards RYR1
UniProt P21817
MIM 180901
Ensembl ENSG00000196218
HGNC 10483
HPRD 01618

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