MYOD1 Gene - Myogenic Differentiation 1
Master regulator of skeletal muscle differentiation and rhabdomyosarcoma driver
Gene Information Card
| Symbol | MYOD1 |
|---|---|
| Full Name | Myogenic Differentiation 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 4654 ncbi.nlm.nih.gov/gene/4654 |
| Ensembl ID | ENSG00000129152 |
| UniProt ID | P15172 |
| OMIM ID | 159970 |
| HGNC ID | 7611 |
| Aliases | MYF3, PUM, bHLHc1, myogenic factor 3 |
Description
MYOD1 encodes a myogenic basic helix-loop-helix (bHLH) transcription factor that acts as a master regulator of skeletal muscle differentiation. It binds to E-box motifs (CANNTG) in the promoter/enhancer regions of muscle-specific genes, activating their expression. MYOD1 is essential for myoblast commitment and differentiation, and its ectopic expression can convert fibroblasts into myoblasts. Somatic mutations, particularly the recurrent p.L122R, are oncogenic drivers in rhabdomyosarcoma, a pediatric soft-tissue cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rhabdomyosarcoma | Somatic activating mutations (e.g., p.L122R) in the DNA-binding domain alter target gene specificity and enhance oncogenic activity, driving tumorigenesis. | COSMIC; PMID: 24651015 |
| Somatic myopathy | Rare germline variants may affect muscle development, but evidence is limited. | ClinVar; OMIM |
| Sporadic desmoid tumors | MYOD1 mutations have been reported in some desmoid-type fibromatoses, though less common. | COSMIC; PMID: 29348686 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | Not available (nTPM from GTEx) | High (muscle-specific) |
| Heart | Not available | Low |
| Brain | Not available | Not detected |
| Liver | Not available | Not detected |
| Testis | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RD (rhabdomyosarcoma) | Not available | High expression; often mutated |
| C2C12 (mouse myoblast) | Not available | High; model for myogenesis |
| HeLa | Not available | Not expressed |
| HEK293 | Not available | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.L122R | Missense | Recurrent in rhabdomyosarcoma (~10-20% of cases) | Alters DNA-binding specificity, enhances oncogenic activity |
| p.E118K | Missense | Rare | Potential gain-of-function |
| p.R156H | Missense | Rare | Unknown functional impact |
| p.S199F | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; MYOD1 loss may impair myogenic differentiation but is not a major oncogenic mechanism.
Gain of Function (GOF)
The p.L122R mutation is considered a gain-of-function, enhancing transcriptional activity and promoting tumorigenesis.
Dominant Negative (DN)
Some mutations may act in a dominant-negative manner, interfering with normal myogenic transcription, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • E-box binding | • protein dimerization activity |
| • regulation of transcription by RNA polymerase II | • skeletal muscle cell differentiation |
| • myoblast differentiation | • positive regulation of transcription |
| • cell fate commitment |
Pathways
• Myogenesis
• Skeletal muscle differentiation
• Rhabdomyosarcoma signaling
• p53 pathway (interaction)
Protein Summary
MYOD1 is a 319-amino acid nuclear protein containing a basic helix-loop-helix domain that mediates DNA binding and dimerization with E-proteins (e.g., E12/E47). It activates muscle-specific genes such as MYOG, MYH, and DES. The protein is phosphorylated and regulated by multiple kinases. In cancer, the p.L122R mutation in the basic region alters target gene selection, leading to aberrant expression of genes involved in proliferation and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOD1 Knockout HEK293 Cell Line | EDJ-KQ1334 | Human | 4654 | Details Get a Quote |
| MYOD1 Knockout HeLa Cell Line | EDJ-KQ53954 | Human | 4654 | Details Get a Quote |
| MYOD1 Knockout A-549 Cell Line | EDJ-KQ62445 | Human | 4654 | Details Get a Quote |
| MYOD1 Knockout HCT 116 Cell Line | EDJ-KQ70910 | Human | 4654 | Details Get a Quote |
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