Musculin - CISMeF

Preferred Label : Musculin;

NCIt synonyms : MSC; bHLHa22; ABF-1; Activated B-Cell Factor 1; Myogenic Repressor; Activated B-cell Factor-1; Class A Basic Helix-Loop-Helix Protein 22;

NCIt definition : Musculin (206 aa, 22 kDa) is encoded by the human MSC gene. This protein plays a role in both transcriptional regulation and DNA binding.;

NCIt note : MSC is capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro, and forms heterodimers with E2A proteins in vivo. MSC contains a transcriptional repression domain and is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. MSC is a downstream target of the B-cell receptor signal transduction pathway. Mice engineered to lack the protein lack muscle structures derived from the first brachial arch. (EntrezGene and OMIM);

Details

Origin ID

C28522;

UMLS CUI

C1431322;

OMIM relation
- Musculin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- MSC protein, human [MeSH Supplementary Concept]
- MSC protein, human [MeSH concept]
gene_encodes_gene_product
- MSC Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Nuclear Localization Signal [NCIt concept]
- bHLH Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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