AABR07030443.2 Gene Summary [Rat]
Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AABR07030443.2 |
| Official Name | titin-cap [Source:NCBI gene;Acc:688173] |
| Ensembl ID | ENSRNOG00000060511 |
| Bio databases IDs | |
| Aliases | titin-cap |
| Synonyms | CMD1N, CMH25, LGMD2G, LGMDR7, TELE, telethonin, titin-cap |
| Species | Rat, Rattus norvegicus |
| 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 rat Aabr07030443.2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cytokine binding
- structural constituent of muscle
- cytoskeletal protein binding
- protein binding activity, bridging
- ion channel binding
- protein domain specific binding
- protein binding
- Telethonin protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- familial hypertrophic cardiomyopathy type 25
- limb-girdle muscular dystrophy type 2
- hypertrophic cardiomyopathy
- limb-girdle muscular dystrophy type 2G
- primary biliary cirrhosis
- dilated cardiomyopathy
- primary dilated cardiomyopathy
- familial hypertrophic cardiomyopathy
regulates
- protein-protein complex
- SYNE2
- TCAP
role in cell
- development
- organization
- assembly
- structural integrity
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
- sarcomere
- cytosol
- I band
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Aabr07030443.2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- macromolecular complex assembly
- skeletal muscle thin filament assembly
- sarcomere organization
- cardiac muscle contraction
- cardiac muscle hypertrophy
- sarcomerogenesis
- adult heart development
- detection of mechanical stimulus
- skeletal muscle contraction
- somitogenesis
- otic vesicle formation
- cardiac muscle cell development
- cardiac myofibril assembly
- skeletal muscle myosin thick filament assembly
- response to muscle stretch
- cardiac muscle hypertrophy in response to stress
- detection of muscle stretch
- cardiac muscle tissue morphogenesis
Cellular Component
Where in the cell the gene product is active
- Z disc
- I band
- cytosol
Molecular Function
What the gene product does at the molecular level
- BMP binding
- structural constituent of muscle
- protein binding
- FATZ binding
- titin binding
- protein binding, bridging
- ion channel binding
- titin Z domain binding
- binding, bridging