full name
ryanodine receptor 1

synonyms
CCO, MHS, MHS1, RYDR, RYR, RYR-1, SKRR, RYR1, ENSG00000196218

HGNC
HGNC:10483

Entrez Gene
Gene:6261

ENSEMBL
ENSG00000196218

location
chr: 19
start: 38924340
stop: 39078204
strand: +

OMIM
OMIM:180901: RYR1 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:117000: Central core disease
OMIM:145600: King-Denborough syndrome
OMIM:255320: Minicore myopathy with external ophthalmoplegia
OMIM:117000: Neuromuscular disease, congenital, with uniform type 1 fiber
OMIM:145600: {Malignant hyperthermia susceptibility 1}

transcripts
NM_000540.2
NM_001042723.1

pathways
Apelin signaling pathway [NCBI:1492886] [KEGG:hsa04371] [PUBMED:23973488] [PUBMED:16182514] [PUBMED:21725702] [PUBMED:22842084] [PUBMED:27825851] [PUBMED:27650065] [PUBMED:22140623] [PUBMED:23943882] [PUBMED:26944568] [PUBMED:24055369] [PUBMED:26385179] [PUBMED:26143239] [PUBMED:22028387] [PUBMED:26254105] [PUBMED:26756969] [PUBMED:22995518] [PUBMED:27979574] [PUBMED:23924696] [PUBMED:21464822] [PUBMED:25914650] [PUBMED:24990699] [PUBMED:26607438] [PUBMED:25164121] [PUBMED:25275559] [PUBMED:25139773] [PUBMED:25931124] [PUBMED:19093215] [PUBMED:20539939] [PUBMED:25652330] [PUBMED:18272138] [PUBMED:23603510]
Calcium signaling pathway [NCBI:83050] [KEGG:hsa04020] [PUBMED:11080247] [PUBMED:14572802] [PUBMED:11413485] [PUBMED:22129055] [PUBMED:10508738] [PUBMED:15000521] [PUBMED:9235901] [PUBMED:7861177] [PUBMED:9149541] [PUBMED:14517314] [PUBMED:15111104] [PUBMED:11698232] [PUBMED:10331643] [PUBMED:12838335] [PUBMED:8125957] [PUBMED:19172794] [PUBMED:10997573] [PUBMED:21338471] [PUBMED:11299192] [PUBMED:22002090] [PUBMED:12972622]
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Circadian entrainment [NCBI:698773] [KEGG:hsa04713] [PUBMED:15016477] [PUBMED:12700026] [PUBMED:20605968] [PUBMED:15813931] [PUBMED:15930378] [PUBMED:12573527] [PUBMED:17586087] [PUBMED:20664079] [PUBMED:17646042] [PUBMED:17167088] [PUBMED:16217123] [PUBMED:11294753] [PUBMED:19109992] [PUBMED:10446325] [PUBMED:10208575] [PUBMED:11086993] [PUBMED:19449447]
Ion channel transport [NCBI:1269950] [REACTOME:R-HSA-983712] [PUBMED:15071553]
Ion homeostasis [NCBI:1339121] [REACTOME:R-HSA-5578775] [PUBMED:26140724] [PUBMED:17017901]
Long-term depression [NCBI:83086] [KEGG:hsa04730] [PUBMED:9602501] [PUBMED:9735948] [PUBMED:14509570] [PUBMED:11427694] [PUBMED:12415297]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Oxytocin signaling pathway [NCBI:952859] [KEGG:hsa04921] [PUBMED:23356278] [PUBMED:9219843] [PUBMED:20626426] [PUBMED:18555543] [PUBMED:22190926] [PUBMED:21981277] [PUBMED:9575824] [PUBMED:22227279] [PUBMED:19840865] [PUBMED:11861513] [PUBMED:9326674] [PUBMED:12433531] [PUBMED:18655881] [PUBMED:23335873] [PUBMED:22902539] [PUBMED:16156781] [PUBMED:20141572] [PUBMED:14715914] [PUBMED:12009385] [PUBMED:16787565] [PUBMED:16966388]
Stimuli-sensing channels [NCBI:1269953] [REACTOME:R-HSA-2672351] [PUBMED:15728426] [PUBMED:16460286] [PUBMED:12907679] [PUBMED:18391176] [PUBMED:19278523] [PUBMED:11904445] [PUBMED:22934072] [PUBMED:20807551] [PUBMED:19783045] [PUBMED:16219661] [PUBMED:21932071] [PUBMED:22277752]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]