Ryr1 - ryanodine receptor 1, skeletal muscle Gene

Also Known as Ryr; skrr; RYR-1

Species: Mus musculus

Gene Type: protein coding

Gene ID: 20190

Summary

Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated Calcium Channel activity. Involved in animal organ development; cellular response to caffeine; and release of sequestered calcium ion into cytosol by sarcoplasmic reticulum. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study central core disease and malignant hyperthermia. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Apr 2022]

Ryr1 Products (1)

mRNA	Protein	Name
NM_009109.2	NP_033135.2	ryanodine receptor 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables calcium channel activity	IMP IMP: Inferred from mutant phenotype	18003898	MGI
enables enzyme binding	IPI IPI: Inferred from physical interaction	19198614	MGI
enables protease binding	IPI IPI: Inferred from physical interaction	18676612	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	15102471	MGI
enables ryanodine-sensitive calcium-release channel activity	IMP IMP: Inferred from mutant phenotype	7621815	MGI
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	12954602	MGI

Biological Process GO Annotation	Evidence	Referencias	Source
acts upstream of or within calcium ion transport	IDA IDA: Inferred from direct assay	12954602	MGI
involved in cellular response to caffeine	IMP IMP: Inferred from mutant phenotype	7621815	MGI
acts upstream of or within muscle contraction	IDA IDA: Inferred from direct assay	12954602	MGI
acts upstream of or within muscle contraction	IMP IMP: Inferred from mutant phenotype	12704193	MGI
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	7515481	MGI
involved in ossification involved in bone maturation	IMP IMP: Inferred from mutant phenotype	18003898	MGI
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	18003898	MGI
acts upstream of or within release of sequestered calcium ion into cytosol	IMP IMP: Inferred from mutant phenotype	12704193	MGI
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	18003898	MGI
involved in skeletal muscle fiber development	IMP IMP: Inferred from mutant phenotype	18003898	MGI
involved in skin development	IMP IMP: Inferred from mutant phenotype	18003898	MGI

Cellular Component GO Annotation	Evidence	Referencias	Source
located in T-tubule	IDA IDA: Inferred from direct assay	8943043	MGI
part of junctional membrane complex	IDA IDA: Inferred from direct assay	10444070	MGI
located in membrane	IDA IDA: Inferred from direct assay	7832748	MGI
part of protein-containing complex	IDA IDA: Inferred from direct assay	18676612	MGI
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	7832748	MGI
located in sarcoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	14592808	MGI
located in smooth endoplasmic reticulum	IDA IDA: Inferred from direct assay	23454728	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
ryanodine receptor 1	calcium release channel skeletal muscle calcium release channel skeletal muscle ryanodine receptor skeletal muscle-type ryanodine receptor type 1 ryanodine receptor

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-12542	Dantrolene	Inhibitor	99.93%	Yes
HY-12542A	Dantrolene sodium hemiheptahydrate	Inhibitor	99.79%	Unkown
HY-14657	Dantrolene sodium	Inhibitor	99.79%	Yes

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-119850	Aladorian	Modulator	99.55%	Phase 2

Pre-clinical Phase

Bioactive Molecules (10)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-149662	TMDJ-035	Inhibitor	99.92%	Unkown
HY-P5114A	Maurocalcine TFA	Agonist	95.09%	Unkown
HY-P5114	Maurocalcine	Agonist	/	Unkown
HY-119581	MBED		/	Unkown
HY-141564	RyR1-IN-1	Inhibitor	/	Unkown
HY-178437	Bastadins-5		/	Unkown
HY-P5424	RyR1(3614-3643)		/	Unkown
HY-RS12368	RYR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19950	Ryr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26452	Ryr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ryr1	NCBI	NCBI:6261