RYR1

Ryanodine receptor 1 (skeletal)
PDB rendering based on 2bcx.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2bcx
Identifiers
Symbols	RYR1 ; CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
External IDs	OMIM: 180901 MGI: 99659 HomoloGene: 68069 IUPHAR: 747 ChEMBL: 1846 GeneCards: RYR1 Gene
Gene ontology Molecular function • protease binding • ryanodine-sensitive calcium-release channel activity • voltage-gated calcium channel activity • calcium channel activity • protein binding • calmodulin binding • calcium-release channel activity Cellular component • cytoplasm • smooth endoplasmic reticulum • cytosol • plasma membrane • integral component of plasma membrane • cell cortex • junctional sarcoplasmic reticulum membrane • terminal cisterna • sarcoplasmic reticulum • junctional membrane complex • T-tubule • I band • sarcoplasmic reticulum membrane • extracellular exosome Biological process • response to hypoxia • outflow tract morphogenesis • calcium ion transport • muscle contraction • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum • response to caffeine • ion transmembrane transport • skin development • ossification involved in bone maturation • skeletal muscle fiber development • release of sequestered calcium ion into cytosol • cytosolic calcium ion homeostasis • transmembrane transport • calcium ion transmembrane transport • cellular response to caffeine Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6261	20190
Ensembl	ENSG00000196218	ENSMUSG00000030592
UniProt	P21817	E9PZQ0
RefSeq (mRNA)	NM_000540	NM_009109
RefSeq (protein)	NP_000531	NP_033135
Location (UCSC)	Chr 19: 38.43 – 38.59 Mb	Chr 7: 29 – 29.13 Mb
PubMed search	[1]	[2]

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene.

Function

RYR1 functions as a calcium release channel in the sarcoplasmic reticulum, as well as a connection between the sarcoplasmic reticulum and the transverse tubule.

Clinical significance

Mutations in the RYR1 gene are associated with malignant hyperthermia susceptibility, central core disease, minicore myopathy with external ophthalmoplegia and samaritan myopathy, a benign congenital myopathy. Alternatively spliced transcripts encoding different isoforms have been demonstrated. Dantrolene may be the only known drug that is effective during cases of malignant hyperthermia.

Interactions

RYR1 has been shown to interact with:

• calmodulin
• FKBP1A
• HOMER1
• HOMER2
• HOMER3 and
• TRDN.

See also

• Ryanodine receptor

External links

• RYR1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
• GeneReviews/NIH/UW entry on Multiminicore Disease
• GeneReviews/NCBI/NIH/UW entry on Malignant Hyperthermia Susceptibility
• RYR1 Variation Database

This article incorporates text from the United States National Library of Medicine, which is in the public domain.