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]
