Ryanodine receptor 1

UniProt P21817 Organism Homo sapiens Gene RYDR, RYR1

Also known as: RYDR, RYR1

Function

Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity).

Classification

Family (Pfam): PF08709 Ins145_P3_rec, PF00520 Ion_trans, PF02815 MIR, PF08454 RIH_assoc, PF06459 RR_TM4-6, PF01365 RYDR_ITPR, PF21119 RYDR_Jsol, PF02026 RyR, PF00622 SPRY
InterPro: B30.2/SPRY, B30.2/SPRY_sf, ConA-like_dom_sf, EF-hand-dom_pair, Ins145_P3_rcpt, Ion_trans_dom, MIR_dom_sf, MIR_motif, RIH_assoc-dom, RIH_dom, Ryan_recept, Ryanodine_IP3_receptor, Ryanodine_rcpt, Ryanrecept_TM4-6, RYDR_Jsol, RyR/IP3R_RIH_dom_sf, SPRY1_RyR, SPRY2_RyR, SPRY3_RyR, SPRY_dom
Functional cluster: Zinc-Finger & Ubiquitination Proteins

Experimental structures · PDB · 2

6UHI X-ray 2.88A
6UHS X-ray 2.46A

A predicted model is available from AlphaFold.

Gene Ontology · 38

Disease associations

central core myopathy MONDO:0007294
malignant hyperthermia, susceptibility to, 1 MONDO:0007783
congenital multicore myopathy with external ophthalmoplegia MONDO:0009712
King-Denborough syndrome MONDO:0020485

Drugs targeting this protein · 1

DANTROLENE SODIUM antagonist

Neighborhood · nearest proteins

Nearest neighbours of Ryanodine receptor 1: 3 by sequence/function similarity (left); 3 co-cited in the literature (right).

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Ryanodine receptor 3 2 shared papers
Ryanodine receptor 2 3 shared papers
Ryanodine receptor 1 2 shared papers
Peptidyl-prolyl cis-trans isomerase FKBP1A 1 shared papers
3',5'-cyclic-AMP phosphodiesterase 4D 1 shared papers
Laminin subunit alpha-2 1 shared papers
Ryanodine receptor 1 1 shared papers
Ryanodine receptor 2 1 shared papers
Four and a half LIM domains protein 1 1 shared papers
D-ribitol-5-phosphate cytidylyltransferase 1 shared papers
Protein S100-A1 1 shared papers
Calpain-3 1 shared papers

Literature · 82 cited papers

Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report. A. A. Case Rep. · 2017
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing. Prenat. Diagn. · 2016
Genotype-phenotype correlations of malignant hyperthermia and central core disease mutations in the central region of the RYR1 channel. Hum. Mutat. · 2016
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin. Genet. · 2017
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. Neuromuscul. Disord. · 2016
Several ryanodine receptor type 1 gene mutations of p.Arg2508 are potential sources of malignant hyperthermia. Anesth. Analg. · 2015
Divergent activity profiles of type 1 ryanodine receptor channels carrying malignant hyperthermia and central core disease mutations in the amino-terminal Region. PLoS ONE · 2015
Novel RYR1 missense mutations in six Chinese patients with central core disease. Neurosci. Lett. · 2014
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology · 2013
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth. Analg. · 2013
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. · 2012
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms. Muscle Nerve · 2011
… and 70 more in the literature graph

A document in the lmmol reference corpus — open public data (UniProt, GO, PDB, the literature graph) rendered as a single cross-linked page. Hover any link to preview its target.