MYOD1
Function
Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins (By similarity).
Involvement in disease
Congenital myopathy 17
CMYO17
An autosomal recessive muscular disorder characterized by hypotonia and respiratory insufficiency apparent soon after birth, high diaphragmatic dome on imaging, poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some affected individuals. Additional variable features include delayed motor development, mildly decreased endurance, distal arthrogryposis, and lung hypoplasia resulting in early death.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by CDK9. This phosphorylation promotes its function in muscle differentiation.
Acetylated by a complex containing EP300 and PCAF. The acetylation is essential to activate target genes. Conversely, its deacetylation by SIRT1 inhibits its function (By similarity).
Ubiquitinated on the N-terminus; which is required for proteasomal degradation.
Methylation at Lys-104 by EHMT2/G9a inhibits myogenic activity.
Cellular localization
- Nucleus
Alternative names
BHLHC1, MYF3, MYOD, MYOD1, Myoblast determination protein 1, Class C basic helix-loop-helix protein 1, Myogenic factor 3, bHLHc1, Myf-3