Ryr1 Gene Summary [Mouse]

Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated calcium channel activity. Involved in several processes, including cellular response to caffeine; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and skeletal muscle fiber development. 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 congenital myopathy 1A; congenital myopathy 1B; and malignant hyperthermia. Human ortholog(s) of this gene implicated in congestive heart failure (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Ryr1
Official Name
ryanodine receptor 1, skeletal muscle [Source:MGI Symbol;Acc:MGI:99659]
Ensembl ID
ENSMUSG00000030592
Bio databases IDs NCBI: 20190 Ensembl: ENSMUSG00000030592
Aliases ryanodine receptor 1, skeletal muscle
Synonyms CCO, CMYO1A, CMYO1B, CMYP1A, CMYP1B, KDS, LOC686059, MHS, MHS1, PPP1R137, ryanodine receptor 1, ryanodine receptor 1, skeletal muscle, RYDR, RYR, Ryr1l, SKRR
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ryr1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ryanodine-sensitive calcium-release channel
  • Ion transport protein
  • SPRY domain
  • calmodulin binding
  • protease binding
  • calcium channel
  • ATP binding
  • calcium ion binding
  • enzyme binding
  • RIH domain
  • MIR domain
  • protein binding
  • RyR domain
  • beta-trefoil_MIR
  • Ryanodine Receptor TM 4-6
  • ion channel
  • calcium-release channel
  • voltage-gated calcium channel
  • RyR and IP3R Homology associated
  • Inositol 1,4,5-trisphosphate/ryanodine receptor

Pathways

Biological processes and signaling networks where the Ryr1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • stroke
  • RYR1-related disorder
  • hereditary disorder
  • neoplasia
  • malignant hyperthermia
  • central core disease
  • asthma
  • centronuclear myopathy
  • susceptibility to malignant hyperthermia 1
  • minicore myopathy with external ophthalmoplegia
regulated by
regulates
role in cell
  • apoptosis
  • binding in
  • phosphorylation in
  • expression in
  • proliferation
  • quantity
  • migration
  • number
  • size
  • function

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • microsomal fraction
  • junctional membrane complex
  • cell periphery
  • perinuclear region
  • cellular membrane
  • cell cortex
  • Plasma Membrane
  • sarcoplasmic reticulum
  • vesicles
  • Endoplasmic Reticulum
  • triad junctions
  • sarcoplasmic reticulum-transverse tubule junction
  • sarcomere
  • cytoplasmic face of plasma membrane
  • inner nuclear membrane
  • I band
  • sarcoplasmic reticulum-T tubule junctions
  • sarcolemma
  • myoplasm
  • smooth endoplasmatic reticulum
  • transverse tubules
  • axon cylinder

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Ryr1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cytosolic calcium ion homeostasis
  • outflow tract morphogenesis
  • striated muscle contraction
  • skin development
  • ossification involved in bone maturation
  • response to hypoxia
  • protein homotetramerization
  • release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
  • cellular response to calcium ion
  • skeletal muscle fiber development
  • muscle contraction
  • calcium ion transport
  • response to caffeine
  • cellular response to caffeine
  • release of sequestered calcium ion into cytosol
  • calcium-mediated signaling

Cellular Component

Where in the cell the gene product is active
  • sarcoplasmic reticulum
  • smooth endoplasmic reticulum
  • organelle membrane
  • plasma membrane
  • Z disc
  • calcium channel complex
  • extracellular vesicular exosome
  • cytoplasm
  • cell cortex
  • sarcolemma
  • I band
  • terminal cisterna
  • junctional sarcoplasmic reticulum membrane
  • sarcoplasmic reticulum membrane

Molecular Function

What the gene product does at the molecular level
  • ATP binding
  • ryanodine-sensitive calcium-release channel activity
  • calcium-release channel activity
  • calmodulin binding
  • calcium-induced calcium release activity
  • calcium channel activity
  • calcium ion binding
  • voltage-gated calcium channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.