MYF5 Gene Summary [Human]
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to contribute to E-box binding activity. Predicted to be involved in several processes, including muscle cell fate commitment; positive regulation of cell differentiation; and skeletal muscle cell differentiation. Predicted to act upstream of or within several processes, including animal organ development; regulation of cell-matrix adhesion; and somitogenesis. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | MYF5 |
| Official Name | myogenic factor 5 [Source:HGNC Symbol;Acc:HGNC:7565] |
| Ensembl ID | ENSG00000111049 |
| Bio databases IDs | |
| Aliases | myogenic factor 5 |
| Synonyms | B130010J22Rik, bHLHc2, EORVA, myogenic factor 5 |
| 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 MYF5 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
- Myogenic determination factor 5
- 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
Pathways
Biological processes and signaling networks where the MYF5 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
- fibrosis
- alveolar soft part sarcoma
- soft tissue sarcoma cancer
- external ophthalmoplegia with rib and vertebral anomalies
- dyspnea
- centronuclear myopathy
- respiratory failure
- rhabdomyosarcoma
role in cell
- migration
- expression in
- proliferation
- cell cycle progression
- activation
- differentiation
- myogenesis
- organization
- size
- perturbation
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
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYF5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle tissue morphogenesis
- muscle cell fate commitment
- positive regulation of myoblast differentiation
- positive regulation of skeletal muscle fiber development
- positive regulation of transcription from RNA polymerase II promoter
- embryonic skeletal system morphogenesis
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- regulation of cell-matrix adhesion
- skeletal muscle cell differentiation
- cartilage condensation
- ossification
- somitogenesis
- skeletal muscle tissue development
- camera-type eye development
- extracellular matrix organization
Cellular Component
Where in the cell the gene product is active
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- protein dimerization activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding