TNNC1 Gene Summary [Human]
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | TNNC1 |
| Official Name | troponin C1, slow skeletal and cardiac type [Source:HGNC Symbol;Acc:HGNC:11943] |
| Ensembl ID | ENSG00000114854 |
| Bio databases IDs | |
| Aliases | troponin C1, slow skeletal and cardiac type |
| Synonyms | CARDIAC TROPONIN C, CMD1Z, CMH13, cTnC, cTnI, cTpC, TN-C, Tncc, TNNC, troponin C1, slow skeletal and cardiac type, troponin C, cardiac/slow skeletal |
| Species | Human, Homo sapiens |
| 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 human TNNC1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- calcium-dependent protein binding
- EF-hand, calcium binding motif
- regulatory domain
- EF-hand domain pair
- calcium ion binding
- EFh
- inhibitory domain
- protein binding
- EFh_MICU
- EFh_PI-PLC
- actin filament binding
- EF-hand domain
- cytoskeletal protein binding
- EF hand
- EF-hand, calcium binding motif, found in parvalbumin-like EF-hand family
- protein homodimerization
Pathways
Biological processes and signaling networks where the TNNC1 gene in human 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
- metastasis
- congestive heart failure
- eclampsia
- vascular disease
- dilated cardiomyopathy 1z
- diastolic dysfunction
- non-insulin-dependent diabetes mellitus
- breast cancer
- heart disease
- systolic heart failure
role in cell
- force generation
- isometric tension
- relaxation
- force relaxation
- relaxation in
- decay in
- sensitivity
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
- myofilaments
- cytosol
- myofibrils
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TNNC1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transition between fast and slow fiber
- skeletal muscle contraction
- ventricular cardiac muscle tissue morphogenesis
- regulation of ATPase activity
- regulation of muscle contraction
- response to metal ion
- regulation of muscle filament sliding speed
- diaphragm contraction
- cardiac muscle contraction
Cellular Component
Where in the cell the gene product is active
- cytosol
- troponin complex
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- protein homodimerization activity
- calcium ion binding
- calcium-dependent protein binding
- troponin I binding
- troponin T binding