Cav3 Gene Summary [Mouse]
This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]
Details
| Type | Protein Coding |
| Official Symbol | Cav3 |
| Official Name | caveolin 3 [Source:MGI Symbol;Acc:MGI:107570] |
| Ensembl ID | ENSMUSG00000062694 |
| Bio databases IDs | |
| Aliases | caveolin 3 |
| Synonyms | caveolin 3, LGMD1C, LQT9, M-cav, MPDT, RMD2, VIP-21 |
| 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 Cav3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Caveolin
- caveolin-scaffolding domain
- binding protein
- transmembrane domain
- alpha-tubulin binding
- ion channel binding
- enzyme binding
- sodium channel regulator
- enzyme
- protein binding
- potassium channel inhibitor
- calcium channel regulator
Pathways
Biological processes and signaling networks where the Cav3 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
- alcoholism
- fibrosis
- myopathy
- rippling muscle disease
- cardiac hypertrophy
- long-QT syndrome
- susceptibility to acquired long QT syndrome type 9
- autosomal recessive rippling muscle disease type 2
- oral squamous cell carcinoma
- squamous cell cancer of the oral cavity
role in cell
- proliferation
- expression in
- cellular infiltration by
- apoptosis
- phosphorylation in
- necrosis
- transmembrane potential
- formation
- formation in
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- microsomal fraction
- raft fractions
- caveolae fraction
- membrane fraction
- intracellular membrane-bounded organelle
- cytoskeleton
- cell surface
- cell periphery
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- vesicles
- Endoplasmic Reticulum
- intercellular junctions
- cell-cell contacts
- granules
- cytosol
- caveolar membranes
- caveolae
- neuromuscular junctions
- I band
- intercalated disks
- sarcolemma
- Z line
- transverse tubules
- membrane rafts
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cav3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of branching involved in mammary gland duct morphogenesis
- negative regulation of cell growth involved in cardiac muscle cell development
- protein localization
- triglyceride metabolic process
- actin filament organization
- plasma membrane organization
- response to hypoxia
- regulation of skeletal muscle contraction
- negative regulation of nitric-oxide synthase activity
- negative regulation of cardiac muscle hypertrophy
- negative regulation of calcium ion transport
- establishment of localization in cell
- positive regulation of microtubule polymerization
- cellular response to organic nitrogen
- nucleus localization
- detection of muscle stretch
- positive regulation of caveolin-mediated endocytosis
- caveola assembly
- T-tubule organization
- regulation of ventricular cardiac muscle cell action potential
- endocytosis
- regulation of p38MAPK cascade
- cardiac muscle hypertrophy
- regulation of protein kinase B signaling cascade
- negative regulation of protein localization at cell surface
- regulation of membrane potential
- glucose homeostasis
- regulation of sodium ion transmembrane transporter activity
- cardiac muscle cell development
- regulation of transforming growth factor beta receptor signaling pathway
- protein localization in plasma membrane
- positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- negative regulation of MAP kinase activity
- regulation of calcium ion import
- negative regulation of MAPK cascade
- positive regulation of cell proliferation
- regulation of ventricular cardiomyocyte membrane repolarization
- negative regulation of protein kinase activity
- cholesterol homeostasis
- heart trabecula formation
- MAPK cascade
- response to ischemia
- negative regulation of cell size
- calcium ion transport
- positive regulation of myotube differentiation
- membrane raft organization
- regulation of signal transduction by receptor internalization
- negative regulation of sarcomere organization
- regulation of ventricular cardiomyocyte membrane depolarization
- regulation of heart contraction
- myoblast fusion
- cytosolic calcium ion homeostasis
- elevation of cytosolic calcium ion concentration
- muscle organ development
- regulation of heart rate
- plasma membrane repair
- regulation of nerve growth factor receptor activity
- cell differentiation
- cytoplasmic microtubule organization
- regulation of cardiac muscle contraction
Cellular Component
Where in the cell the gene product is active
- Golgi membrane
- endoplasmic reticulum
- plasma membrane
- cell surface
- Z disc
- T-tubule
- caveola
- focal adhesion
- sarcolemma
- intracellular membrane-bounded organelle
- membrane raft
- dystrophin-associated glycoprotein complex
- intercalated disc
- vesicle
- neuromuscular junction
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- protein binding
- potassium channel inhibitor activity
- connexin binding
- alpha-tubulin binding
- calcium channel regulator activity
- nitric-oxide synthase binding
- ion channel binding
- binding, bridging