MSC Gene Summary [Human]
The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MSC |
| Official Name | musculin [Source:HGNC Symbol;Acc:HGNC:7321] |
| Ensembl ID | ENSG00000178860 |
| Bio databases IDs | |
| Aliases | musculin, activated B-cell factor-1 |
| Synonyms | ABF-1, activated B-cell factor-1, bHLHa22, musculin, MYOR |
| 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 MSC 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 factor activity, sequence-specific DNA binding
- transcription regulator
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- helix-loop-helix domain
- protein binding
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
- transcription factor activity
Pathways
Biological processes and signaling networks where the MSC 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
- metastatic colorectal cancer
- Hutchinson-Gilford progeria syndrome
- diabetic nephropathy
- major depression
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- lymphomagenesis
- primary central nervous system lymphoma
- primary cancer
- central nervous system cancer
- Hodgkin lymphoma
role in cell
- expression in
- formation
- myogenesis
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
- nuclear fraction
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MSC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- skeletal muscle tissue development
- branchiomeric skeletal muscle development
- cardiac conduction system development
- palate development
- regulation of transcription, DNA-dependent
- diaphragm development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity