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RyR1

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Target not currently curated in GtoImmuPdb

Target id: 747

Nomenclature: RyR1

Family: Ryanodine receptors

Gene and Protein Information Click here for help
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 Click here for help
CCO | MHS | MHS1 | RYR | calcium release channel isoform 1 | skrr | ryanodine receptor 1 (skeletal) | ryanodine receptor 1
Database Links Click here for help
ChEMBL Target
DrugBank Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
UniProtKB
Wikipedia
Functional Characteristics Click here for help
Ca2+: (P Ca/P K6) single-channel conductance: 90 pS (50mM Ca2+), 770 pS (200 mM K+)

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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 Small molecule or natural product Approved drug Click here for species-specific activity table Ligand has a PDB structure Hs - - - - -
pharmacological; mM range
cytosolic Ca2+ Click here for species-specific activity table Ligand is endogenous in the given species Hs - - - - -
endogenous; μM range
luminal Ca2+ Click here for species-specific activity table Ligand is endogenous in the given species Hs - - - - -
endogenous
cytosolic ATP Small molecule or natural product Click here for species-specific activity table Ligand is endogenous in the given species Ligand has a PDB structure Hs - - - - -
endogenous; mM range
suramin Small molecule or natural product Approved drug Click here for species-specific activity table Ligand has a PDB structure Hs - - - - -
pharmacological; μM range
ryanodine Small molecule or natural product Click here for species-specific activity table 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+ Click here for species-specific activity table Ligand is endogenous in the given species Hs Antagonist - -
Conc range: > 1x10-4 M
cytosolic Mg2+ Click here for species-specific activity table Ligand is endogenous in the given species Hs Antagonist - -
mM range
dantrolene Small molecule or natural product Approved drug Primary target of this compound Click here for species-specific activity table 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 Small molecule or natural product Click here for species-specific activity table Hs - - - > 1x10-4 -
Conc range: > 1x10-4 M
ruthenium red Click here for species-specific activity table Hs - - - - -
procaine Small molecule or natural product Approved drug Click here for species-specific activity table Hs - - - - -
Clinically-Relevant Mutations and Pathophysiology Click here for help
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: 
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

References

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1. Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J. (2012) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol, 124 (4): 575-81. [PMID:22752422]

How to cite this page

Ryanodine receptors: RyR1. Last modified on 31/07/2019. Accessed on 29/07/2021. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=747.