Gene and Protein Information
Species	TM	P Loops	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	6	0	5038	19q13.2	RYR1	ryanodine receptor 1
Mouse	6	0	5035	7 16.94 cM	Ryr1	ryanodine receptor 1, skeletal muscle
Rat	6	0	5035	1q21	Ryr1	ryanodine receptor 1

Previous and Unofficial Names

CCO | MHS | MHS1 | RYR | calcium release channel isoform 1 | skrr | ryanodine receptor 1 (skeletal) | ryanodine receptor 1

Database Links
Alphafold	P21817 (Hs), E9PZQ0 (Mm), F1LMY4 (Rn)
ChEMBL Target	CHEMBL1846 (Hs), CHEMBL2133 (Mm)
DrugBank Target	P21817 (Hs)
Ensembl Gene	ENSG00000196218 (Hs), ENSMUSG00000030592 (Mm), ENSRNOG00000020557 (Rn)
Entrez Gene	6261 (Hs), 20190 (Mm), 114207 (Rn)
Human Protein Atlas	ENSG00000196218 (Hs)
KEGG Gene	hsa:6261 (Hs), mmu:20190 (Mm), rno:114207 (Rn)
OMIM	180901 (Hs)
Orphanet	ORPHA118437 (Hs)
Pharos	P21817 (Hs)
UniProtKB	P21817 (Hs), E9PZQ0 (Mm), F1LMY4 (Rn)
Wikipedia	RYR1 (Hs)

Functional Characteristics
Ca2+: (P Ca/P K6) single-channel conductance: 90 pS (50 mM Ca2+), 770 pS (200 mM K+)

Download all structure-activity data for this target as a CSV file

Activators
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference caffeine Hs - - - - - ⤷ pharmacological; mM range cytosolic Ca2+ Hs - - - - - ⤷ endogenous; μM range luminal Ca2+ Hs - - - - - ⤷ endogenous cytosolic ATP Hs - - - - - ⤷ endogenous; mM range suramin Hs - - - - - ⤷ pharmacological; μM range ryanodine Hs - - - - - ⤷ pharmacological; nM - μM range
Activator Comments
RyR1 is also activated by depolarisation via DHP receptor, calmodulin at low cytosolic Ca2+ concentrations, CaM kinase and PKA.

Antagonists
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Reference cytosolic Ca2+ Hs Antagonist - - ⤷ Conc range: > 1x10-4 M cytosolic Mg2+ Hs Antagonist - - ⤷ mM range dantrolene Hs Antagonist - - ⤷
Antagonist Comments
RyR1 is also antagonised by calmodulin at high cytosolic Ca2+ concentrations.

Channel Blockers
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference ryanodine Hs - - - > 1x10-4 - ⤷ Conc range: > 1x10-4 M ruthenium red Hs - - - - - ⤷ procaine Hs - - - - - ⤷

Clinically-Relevant Mutations and Pathophysiology
Disease:  Benign Samaritan congenital myopathy Orphanet: ORPHA324581 References:  1 Click column headers to sort Type Species Amino acid change Nucleotide change Description Reference Missense Human Y1088C 3263A>G 1
Disease:  Central core disease of muscle Synonyms: Central core disease [Orphanet: ORPHA597] Central core myopathy [Disease Ontology: DOID:3529] Moderate multiminicore disease with hand involvement [Orphanet: ORPHA178145] Disease Ontology: DOID:3529 OMIM: 117000 Orphanet: ORPHA597, ORPHA178145
Disease:  King-Denborough syndrome OMIM: 145600 Orphanet: ORPHA99741
Disease:  Malignant hyperthermia, susceptibility to, 1; MHS1 Synonyms: Malignant hyperthermia [Orphanet: ORPHA423] [Disease Ontology: DOID:8545] Disease Ontology: DOID:8545 OMIM: 145600 Orphanet: ORPHA423 Drugs:  Dantrolene
Disease:  Minicore myopathy with external ophthalmoplegia Synonyms: Congenital multicore myopathy with external ophthalmoplegia [Orphanet: ORPHA98905] OMIM: 255320 Orphanet: ORPHA98905
Disease:  Myopathy, centronuclear, 1; CNM1 Synonyms: Autosomal dominant centronuclear myopathy [Orphanet: ORPHA169189] Centronuclear myopathy [Disease Ontology: DOID:14717] Disease Ontology: DOID:14717 OMIM: 160150 Orphanet: ORPHA169189