MYH6 Gene Summary [Human]
Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Details
| Type | Retained Intron |
| Official Symbol | MYH6 |
| Official Name | myosin heavy chain 6 [Source:HGNC Symbol;Acc:HGNC:7576] |
| Ensembl ID | ENSG00000197616 |
| Bio databases IDs | |
| Aliases | myosin heavy chain 6, cardiomyopathy, hypertrophic 1 |
| Synonyms | A830009F23RIK, alpha-MHC, Alpha MyHC, ASD3, Cardiac alpha myosin heavy-chain, Cardiac myosin heavy chain, Cardiac α myosin heavy-chain, CMD1EE, CMH14, MHC6 alpha, MHC6 α, Myh7, MYHC, MYHCA, MyHC-beta, MyHC-slow, MyHC-β, Myosin-7, myosin heavy chain 6, Myosin Heavy Chain alpha, Myosin Heavy Chain α, myosin, heavy polypeptide 6, cardiac muscle, alpha, myosin, heavy polypeptide 6, cardiac muscle, α, SSS3, α-MHC, α MyHC, α Myosin Heavy Chain |
| 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 MYH6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- myosin phosphatase
- Synaptonemal complex protein 1 (SCP-1)
- ATP binding
- microfilament motor protein
- Myosin N-terminal SH3-like domain
- helix-rich Mycoplasma protein
- enzyme
- identical protein binding
- chromosome segregation protein SMC, common bacterial type
- Tropomyosin
- HOOK protein coiled-coil region
- SPEC
- Crescentin protein
- chromosome segregation protein SMC, primarily archaeal type
- exonuclease SbcC
- Weak chloroplast movement under blue light
- protein kinase binding
- Myosin and Kinesin motor domain
- Yuri gagarin
- Hyaluronan mediated motility receptor N-terminal
- rad50
- Myosin tail
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- Myosin head (motor domain)
- Alpha helical coiled-coil rod protein (HCR)
- RecF/RecN/SMC N terminal domain
- RIM-binding protein of the cytomatrix active zone
- binding protein
- Coiled-coil domain-containing protein 158
- Intermediate filament protein
- Septation ring formation regulator, EzrA
- Myosin
Pathways
Biological processes and signaling networks where the MYH6 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Actin Cytoskeleton Signaling
- Agranulocyte Adhesion and Diapedesis
- Calcium Signaling
- Cellular Effects of Sildenafil (Viagra)
- Factors Promoting Cardiogenesis in Vertebrates
- Hepatic Fibrosis / Hepatic Stellate Cell Activation
- ILK Signaling
- Phagosome Formation
- RhoGDI Signaling
- Tight Junction Signaling
- TR/RXR Activation
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dilated cardiomyopathy type 1EE
- sick sinus syndrome type 3
- experimental autoimmune myocarditis
- hereditary disorder
- arrhythmia
- hypertrophic cardiomyopathy
- atrial fibrillation
- dilated cardiomyopathy
- heart failure
- familial hypertrophic cardiomyopathy type 14
role in cell
- production in
- expression in
- proliferation
- damage
- disorganization
- assembly
- loss
- development
- abnormal morphology
- sliding
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
- cellular membrane
- myofilaments
- sarcomere
- cytosol
- nuclear scaffolds
- myofibrils
- A bands
- Z line
- thin filaments
- actin stress fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYH6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of heart growth
- ventricular cardiac muscle tissue morphogenesis
- regulation of heart contraction
- sarcomere organization
- striated muscle contraction
- cardiac muscle contraction
- regulation of blood pressure
- visceral muscle development
- adult heart development
- myofibril assembly
- regulation of the force of heart contraction
- regulation of heart rate
- in utero embryonic development
- muscle contraction
- regulation of ATPase activity
- ATP metabolic process
- cardiac muscle cell development
- cardiac muscle hypertrophy in response to stress
- muscle filament sliding
- atrial cardiac muscle tissue morphogenesis
Cellular Component
Where in the cell the gene product is active
- Z disc
- myosin complex
- muscle myosin complex
- cytoplasm
- stress fiber
- myosin II complex
- myosin filament
- cytosol
- sarcomere
- myofibril
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein kinase binding
- ATP binding
- calmodulin binding
- microfilament motor activity
- myosin phosphatase activity