MYF6 Gene Summary [Human]
The protein encoded by this gene is a probable basic helix-loop-helix (bHLH) DNA binding protein involved in muscle differentiation. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of autosomal dominant centronuclear myopathy (ADCNM). [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | MYF6 |
| Official Name | myogenic factor 6 [Source:HGNC Symbol;Acc:HGNC:7566] |
| Ensembl ID | ENSG00000111046 |
| Bio databases IDs | |
| Aliases | myogenic factor 6, muscle-specific regulatory factor 4, herculin |
| Synonyms | bHLHc4, CNM3, herculin, MRF4, MRF4AA, myogenic factor 6 |
| 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 MYF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- Myogenic Basic domain
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- amyotrophic lateral sclerosis
- dyspnea
- centronuclear myopathy
- kyphosis
- respiratory failure
role in cell
- number
- growth
- differentiation
- cell cycle progression
- myogenesis
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- cytosol
- nucleoplasm
- myofibrils
- mitotic spindle
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription, DNA-dependent
- skeletal muscle cell differentiation
- somitogenesis
- skeletal muscle tissue development
- muscle cell fate commitment
- muscle tissue morphogenesis
- positive regulation of myoblast differentiation
- positive regulation of skeletal muscle fiber development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitotic spindle
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding