MYOD1 Gene Summary [Human]
This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MYOD1 |
| Official Name | myogenic differentiation 1 [Source:HGNC Symbol;Acc:HGNC:7611] |
| Ensembl ID | ENSG00000129152 |
| Bio databases IDs | |
| Aliases | myogenic differentiation 1, myoblast determination protein 1 |
| Synonyms | bHLHc1, CMYO17, CMYP17, MD1, MYF3, MYOD, MYODRIF, myogenic differentiation 1, PUM |
| 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 MYOD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- transcription activation domain
- transcription factor binding
- chromatin binding
- Myogenic determination factor 5
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Myogenic Basic domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- basic domain
- ubiquitin protein ligase binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- ligand-dependent nuclear receptor interactor
- DNA binding domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- alpha helix
- enzyme binding
- helical domain
- protein binding
- sequence-specific DNA binding
- DNA binding
- p300/cbp binding domain
- double-stranded DNA binding
- protein homodimerization
- helix loop helix domain
- cysteine-histidine rich domain
- transcription factor activity
- junctional domain
Pathways
Biological processes and signaling networks where the MYOD1 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
- embryonal rhabdomyosarcoma
- rhabdomyosarcoma
- soft tissue sarcoma cancer
- cancer
- congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
- hypoplasia
- respiratory failure
- Hodgkin lymphoma
- Hodgkin disease
- facioscapulohumeral muscular dystrophy
role in cell
- expression in
- proliferation
- activation
- growth
- differentiation
- phosphorylation in
- formation in
- cell cycle progression
- apoptosis
- cell viability
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
- Cytoplasm
- cytosol
- nucleoplasm
- myofibrils
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYOD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle cell fate commitment
- transcription from RNA polymerase II promoter
- positive regulation of myoblast differentiation
- positive regulation of transcription from RNA polymerase II promoter
- protein phosphorylation
- skeletal muscle fiber adaptation
- cellular response to estradiol stimulus
- negative regulation of myoblast proliferation
- cellular response to oxygen levels
- skeletal muscle cell differentiation
- regulation of alternative nuclear mRNA splicing, via spliceosome
- skeletal muscle fiber development
- cellular response to tumor necrosis factor
- positive regulation of muscle cell differentiation
- myoblast fusion
- positive regulation of skeletal muscle fiber development
- cellular response to starvation
- positive regulation of skeletal muscle tissue regeneration
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- myoblast cell fate determination
- myotube differentiation involved in skeletal muscle regeneration
- skeletal muscle tissue development
- regulation of RNA splicing
- cellular response to glucocorticoid stimulus
- myotube cell development
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- euchromatin
- chromatin
- myofibril
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- ligand-dependent nuclear receptor binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription
- chromatin binding
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- ubiquitin protein ligase binding
- protein binding
- E-box binding