MYBPC3 Gene Summary [Human]
MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]
Details
| Type | Protein Coding |
| Official Symbol | MYBPC3 |
| Official Name | myosin binding protein C3 [Source:HGNC Symbol;Acc:HGNC:7551] |
| Ensembl ID | ENSG00000134571 |
| Bio databases IDs | |
| Aliases | myosin binding protein C3 |
| Synonyms | CARDIAC C, CMD1MM, CMH4, cMyBP-C, FHC, LVNC10, MYBP-C, MyBP-C cardiac, myosin binding protein C3, myosin binding protein C, cardiac |
| 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 MYBPC3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Tri-helix bundle domain
- ATPase stimulator
- regulatory domain
- C1C2 domain
- globular domain
- immunoglobulin domain
- cardiac MyBP-C motif
- Ig-like C2 domain
- Immunoglobulin I-set domain
- Fibronectin type 3 domain
- protein binding
- identical protein binding
- myosin binding
- structural constituent of muscle
- structural constituent of cytoskeleton
- FN3
- Ig-like C0 domain
- Immunoglobulin like
- M-domain
- immunoglobulin-like protein domain
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- multiple sclerosis
- hypertrophic cardiomyopathy
- schizophrenia
- familial hypertrophic cardiomyopathy-4
- MYBPC3-related disorder
- cardiomyopathy
- familial hypertrophic cardiomyopathy
- cardiac hypertrophy
- heart failure
role in cell
- proliferation
- activity
- quantity
- morphology
- formation
- contraction
- cell cycle progression
- assembly
- co-localization
- organization
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
- cytoskeleton
- myofilaments
- sarcomere
- cytosol
- C zone
- myofibrils
- A bands
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYBPC3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart morphogenesis
- positive regulation of ATPase activity
- ventricular cardiac muscle tissue morphogenesis
- sarcomere organization
- regulation of muscle filament sliding
- cell adhesion
- cardiac muscle contraction
- regulation of striated muscle contraction
Cellular Component
Where in the cell the gene product is active
- C zone
- cytosol
- A band
- M band
- sarcomere
- striated muscle myosin thick filament
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- structural constituent of muscle
- actin binding
- metal ion binding
- myosin binding
- myosin heavy chain binding
- titin binding
- ATPase activator activity