Ryanodine receptor 1

RYR1
Identifiers
Aliases	RYR1, CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR, ryanodine receptor 1, KDS
External IDs	OMIM: 180901; MGI: 99659; HomoloGene: 68069; GeneCards: RYR1; OMA:RYR1 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	38,595,273 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	29,125,179 bp
RNA expression pattern
	Top expressed in
	glutes; ; gastrocnemius muscle; ; muscle of thigh; ; triceps brachii muscle; ; vastus lateralis muscle; ; Skeletal muscle tissue of rectus abdominis; ; tibialis anterior muscle; ; Skeletal muscle tissue of biceps brachii; ; deltoid muscle; ; thoracic diaphragm;
	Top expressed in
	triceps brachii muscle; ; vastus lateralis muscle; ; temporal muscle; ; gastrocnemius muscle; ; medial head of gastrocnemius muscle; ; extensor digitorum longus muscle; ; plantaris muscle; ; digastric muscle; ; sternocleidomastoid muscle; ; muscle of thigh;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	voltage-gated calcium channel activity; calcium channel activity; calmodulin binding; protease binding; ion channel activity; protein binding; enzyme binding; calcium-release channel activity; ryanodine-sensitive calcium-release channel activity; calcium-induced calcium release activity; calcium ion binding; nucleotide binding; ATP binding; metal ion binding;
Cellular component	cytoplasm; integral component of membrane; membrane; I band; T-tubule; plasma membrane; integral component of plasma membrane; sarcoplasmic reticulum; junctional sarcoplasmic reticulum membrane; terminal cisterna; smooth endoplasmic reticulum; cell cortex; junctional membrane complex; extracellular exosome; integral component of organelle membrane; ryanodine receptor complex; sarcoplasmic reticulum membrane; Z discdkac; cytoplasmic vesicle membrane; protein-containing complex; calcium channel complex; sarcolemma;
Biological process	ossification involved in bone maturation; regulation of cardiac conduction; response to hypoxia; muscle contraction; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of cytosolic calcium ion concentration; outflow tract morphogenesis; cellular calcium ion homeostasis; ion transport; multicellular organism development; ion transmembrane transport; skeletal muscle fiber development; calcium ion transmembrane transport; response to caffeine; calcium ion transport; skin development; transmembrane transport; cellular response to caffeine; protein homotetramerization; cellular response to calcium ion; release of sequestered calcium ion into cytosol; transport;
	Sources:Amigo / QuickGO
Orthologs
	6261
	20190
	ENSG00000196218
	ENSMUSG00000030592
	P21817
	E9PZQ0
	NM_000540; NM_001042723
	NM_009109
	NP_000531; NP_001036188
	NP_033135
	Wikidata
View/Edit Human	View/Edit Mouse

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is one of a class of ryanodine receptors and a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene.^[5]^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000196218 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030592 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH (July 1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–51. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID 1862346.
^ Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I (June 2006). "Central core disease is due to RYR1 mutations in more than 90% of patients". Brain. 129 (Pt 6): 1470–80. CiteSeerX 10.1.1.328.2103. doi:10.1093/brain/awl077. PMID 16621918.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000196218 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030592 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1862346-5] Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH (July 1991). "Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia". Science. 253 (5018): 448–51. Bibcode:1991Sci...253..448F. doi:10.1126/science.1862346. PMID 1862346.

[pmid16621918-6] Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I (June 2006). "Central core disease is due to RYR1 mutations in more than 90% of patients". Brain. 129 (Pt 6): 1470–80. CiteSeerX 10.1.1.328.2103. doi:10.1093/brain/awl077. PMID 16621918.

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