Actn3 Gene Summary [Mouse]
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | Actn3 |
| Official Name | actinin alpha 3 [Source:MGI Symbol;Acc:MGI:99678] |
| Ensembl ID | ENSMUSG00000006457 |
| Bio databases IDs | |
| Aliases | actinin alpha 3 |
| Synonyms | Actinin 3 alpha, Actinin 3 α, actinin alpha 3, actinin α 3, ACTN3D |
| 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 Actn3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- Calponin homology domain
- protein binding activity, bridging
- EFh
- protein binding
- Ca2+ insensitive EF hand
- identical protein binding
- actin filament binding
- Spectrin repeats
- EF-hand domain
- structural constituent of muscle
- integrin binding
- calponin homology (CH) domain superfamily
- ion channel binding
- Spectrin repeat
Pathways
Biological processes and signaling networks where the Actn3 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Actin Cytoskeleton Signaling
- Germ Cell-Sertoli Cell Junction Signaling
- ILK Signaling
- Integrin Signaling
- Leukocyte Extravasation Signaling
- Paxillin Signaling
- Regulation of Cellular Mechanics by Calpain Protease
- Remodeling of Epithelial Adherens Junctions
- Sertoli Cell-Sertoli Cell Junction Signaling
- VEGF Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- asthma
- Huntington disease
- papilloma
- papillomatosis
- ACTN3 deficiency-related sprinting performance
- dermatomyositis
- bipolar disorder
- amyotrophic lateral sclerosis
- sleep apnea syndrome
- ulcerative colitis
role in cell
- development
- assembly
- glycolysis in
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
- focal adhesions
- actin filaments
- sarcomere
- cytosol
- myofibrils
- Z line
- brush border
- pseudopodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Actn3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to denervation involved in regulation of muscle adaptation
- transition between fast and slow fiber
- negative regulation of oxidative phosphorylation
- muscle cell development
- bone morphogenesis
- negative regulation of glycolysis
- regulation of apoptotic process
- positive regulation of bone mineralization involved in bone maturation
- positive regulation of skeletal muscle tissue growth
- positive regulation of skeletal muscle fiber development
- positive regulation of fast-twitch skeletal muscle fiber contraction
- regulation of the force of skeletal muscle contraction
- negative regulation of calcineurin-NFAT signaling cascade
- focal adhesion assembly
- actin cytoskeleton organization
- skeletal muscle atrophy
Cellular Component
Where in the cell the gene product is active
- Z disc
- extracellular vesicular exosome
- brush border
- focal adhesion
- cell junction
- cytosol
- pseudopodium
- actin filament
- cell projection
- plasma membrane
- cortical actin cytoskeleton
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- identical protein binding
- protein binding
- structural constituent of muscle
- calcium ion binding
- integrin binding
- ion channel binding