MYOM1 Gene - Myomesin 1
Structural protein of the M-band in striated muscle
Gene Information Card
| Symbol | MYOM1 |
|---|---|
| Full Name | Myomesin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.31 |
| NCBI Gene ID | 8736 ncbi.nlm.nih.gov/gene/8736 |
| Ensembl ID | ENSG00000101605 |
| UniProt ID | P52179 |
| OMIM ID | 603508 |
| HGNC ID | 7613 |
| Aliases | SarcM, MYOM1, 160 kDa myomesin |
Description
MYOM1 encodes myomesin 1, a 185 kDa protein that is a major component of the M-band in the sarcomere of striated muscle. It interacts with titin and other M-band proteins to maintain sarcomere integrity during muscle contraction. Mutations in MYOM1 are associated with hypertrophic cardiomyopathy and other myopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic cardiomyopathy | Disruption of sarcomere structure due to MYOM1 mutations impairing M-band assembly | ClinVar, OMIM |
| Dilated cardiomyopathy | Altered myomesin-1 function leads to reduced contractile stability | ClinVar |
| Myopathy, myofibrillar | Defective M-band integrity causes myofibrillar disorganization | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 78.5 | High |
| Skeletal muscle | 65.2 | High |
| Esophagus | 12.3 | Low |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 85.0 | High expression |
| Skeletal muscle myoblasts | 60.1 | Moderate |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001% | Altered protein stability |
| c.2567_2569del (p.Lys856del) | Deletion | 0.0005% | Disrupted M-band binding |
| c.3456G>A (p.Trp1152*) | Nonsense | 0.0002% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations that disrupt M-band assembly in heterozygous state
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton (GO:0005856) | • striated muscle thin filament (GO:0005865) |
| • protein binding (GO:0005515) | • sarcomere (GO:0030017) |
| • structural constituent of muscle (GO:0008307) |
Pathways
• Striated Muscle Contraction (Reactome: R-HSA-390522)
• Sarcomere Organization (Reactome: R-HSA-5250913)
Protein Summary
Myomesin 1 is a 185 kDa protein localized to the M-band of the sarcomere. It contains immunoglobulin-like and fibronectin type III domains that mediate interactions with titin, myosin, and other M-band proteins. It is essential for maintaining the structural integrity of the sarcomere during muscle contraction and relaxation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYOM1 Knockout HEK293 Cell Line | EDJ-KQ3153 | Human | 8736 | Details Get a Quote |
| MYOM1 Knockout HeLa Cell Line | EDJ-KQ54992 | Human | 8736 | Details Get a Quote |
| MYOM1 Knockout A-549 Cell Line | EDJ-KQ63475 | Human | 8736 | Details Get a Quote |
| MYOM1 Knockout HCT 116 Cell Line | EDJ-KQ71943 | Human | 8736 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
