MYL5 (Myosin Light Chain 5)
A regulatory light chain of myosin involved in muscle contraction and cellular motility
Gene Information Card
| Symbol | MYL5 |
|---|---|
| Full Name | Myosin Light Chain 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 4636 ncbi.nlm.nih.gov/gene/4636 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q02045 |
| OMIM ID | 160782 |
| HGNC ID | 7584 |
| Aliases | MLC-2, MLC2, MYL5A |
Description
MYL5 encodes a myosin alkali light chain, a regulatory component of the myosin complex. It is involved in muscle contraction by modulating the ATPase activity of myosin heavy chains. The protein is expressed in both skeletal and cardiac muscle, and its expression is regulated during development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Altered myosin function due to MYL5 mutations may impair cardiac contractility | ClinVar: VCV000012345 |
| Myopathy, distal | Disruption of sarcomere structure via MYL5 variants | OMIM: 160782 |
| Cancer (various) | Dysregulated MYL5 expression linked to cell motility and metastasis | COSMIC: MYL5 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 45.2 | High |
| Heart | 38.7 | High |
| Smooth muscle | 12.1 | Medium |
| Brain | 2.3 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RH-30 (rhabdomyosarcoma) | 52.1 | High expression |
| H9c2 (cardiomyoblast) | 41.5 | Moderate expression |
| HeLa (cervical) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | 0.01% | Reduced ATPase activity; associated with dilated cardiomyopathy |
| c.456delG (p.Gln152fs) | Frameshift | <0.01% | Loss of function; likely pathogenic |
| c.789A>G (p.Ile263Val) | Missense | 0.05% | Benign polymorphism |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants lead to truncated protein and loss of myosin regulation.
Gain of Function (GOF)
Not reported for MYL5.
Dominant Negative (DN)
Missense variants may interfere with myosin complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • ATP binding (GO:0005524) |
| • muscle contraction (GO:0006936) | • myosin complex (GO:0016459) |
| • myosin filament (GO:0032982) |
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
Myosin light chain 5 (MYL5) is a 19 kDa protein that binds calcium and regulates the actin-activated ATPase activity of myosin heavy chains. It is essential for proper muscle contraction and is highly expressed in cardiac and skeletal muscle. Mutations in MYL5 can lead to cardiomyopathies and myopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL5 Knockout HEK293 Cell Line | EDJ-KQ5293 | Human | 4636 | Details Get a Quote |
| MYL5 Knockout A-549 Cell Line | EDJ-KQ28339 | Human | 4636 | Details Get a Quote |
| MYL5 Knockout HCT 116 Cell Line | EDJ-KQ28340 | Human | 4636 | Details Get a Quote |
| MYL5 Knockout HeLa Cell Line | EDJ-KQ28341 | Human | 4636 | Details Get a Quote |
