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 | |
| 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 |
| Orthologies |
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
phenotypes
- increased respiratory quotient
- increased spleen weight
- preweaning lethality complete penetrance
- abnormal Z line morphology
- abnormal axial skeleton morphology
- abnormal body temperature homeostasis
- abnormal calcium ion homeostasis
- abnormal cell physiology
- abnormal coronary artery morphology
- abnormal dermal layer morphology
- abnormal diaphragm morphology
- abnormal interventricular groove morphology
- abnormal limb morphology
- abnormal locomotor behavior
- abnormal mitochondrial physiology
- abnormal mitochondrial shape
- abnormal muscle contractility
- abnormal muscle development
- abnormal muscle electrophysiology
- abnormal muscle fiber morphology
- abnormal muscle physiology
- abnormal physiological response to xenobiotic
- abnormal posture
- abnormal potassium ion homeostasis
- abnormal rib morphology
- abnormal sarcomere morphology
- abnormal sarcoplasmic reticulum morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeletal muscle morphology
- abnormal skin condition
- abnormal soleus morphology
- abnormal spine curvature
- abnormal spleen weight
- abnormal thoracic cage shape
- acidemia
- centrally nucleated skeletal muscle fibers
- cleft secondary palate
- cyanosis
- decreased birth body size
- decreased birth weight
- decreased body length
- decreased body weight
- decreased grip strength
- decreased skeletal muscle fiber diameter
- decreased skeletal muscle fiber number
- decreased skeletal muscle fiber size
- decreased skeletal muscle mass
- decreased total body fat amount
- delayed bone ossification
- delayed heart development
- domed cranium
- edema
- enhanced behavioral response to xenobiotic
- fetal growth retardation
- hindlimb paralysis
- hypercapnia
- impaired muscle contractility
- impaired muscle relaxation
- impaired skeletal muscle contractility
- increased body weight
- increased brown adipose tissue amount
- increased circulating potassium level
- increased core body temperature
- increased pulmonary respiratory rate
- increased sensitivity to xenobiotic induced morbidity/mortality
- increased susceptiblity to malignant hyperthermia
- increased variability of skeletal muscle fiber size
- kyphosis
- lethality throughout fetal growth and development complete penetrance
- muscle tetany
- muscle twitch
- muscle weakness
- myopathy
- neonatal lethality complete penetrance
- no spontaneous movement
- omphalocele
- ostium primum atrial septal defect
- ostium secundum atrial septal defect
- paralysis
- pectus excavatum
- perinatal lethality complete penetrance
- respiratory distress
- respiratory failure
- skeletal muscle degeneration
- skin edema
- thin ribs
- tight skin
- translucent skin
- underdeveloped hair follicles
- unresponsive to tactile stimuli
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