MYO5A
Myosin VA: A Molecular Motor in Melanosome Transport and Neurodevelopment
Gene Information Card
| Symbol | MYO5A |
|---|---|
| Full Name | myosin VA |
| Gene Type | protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 4644 ncbi.nlm.nih.gov/gene/4644 |
| Ensembl ID | ENSG00000197535 |
| UniProt ID | Q9Y4I1 |
| OMIM ID | 160777 |
| HGNC ID | 7602 |
| Aliases | GS1, MYH12, MYR12, dilute |
Description
MYO5A encodes myosin VA, a class V unconventional myosin motor protein that moves along actin filaments. It is essential for the transport of melanosomes in melanocytes and for vesicle trafficking in neurons. Mutations in MYO5A cause Griscelli syndrome type 1, characterized by pigmentary dilution and severe neurological impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Griscelli syndrome type 1 | Loss-of-function mutations impair melanosome transport and neuronal vesicle trafficking, leading to hypopigmentation and neurological deficits. | OMIM #214450, ClinVar |
| Elejalde syndrome | Similar phenotype to Griscelli syndrome type 1; MYO5A mutations identified in some cases. | OMIM #256710, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Skin | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-MEL-30 | 15.2 | Melanoma cell line |
| SH-SY5Y | 11.8 | Neuroblastoma cell line |
| HEK 293 | 7.4 | Embryonic kidney cells |
| A549 | 5.1 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1357C>T (p.Arg453*) | Nonsense | <0.01% | Premature stop; loss of motor function |
| c.1765G>A (p.Glu589Lys) | Missense | <0.01% | Impaired actin binding |
| c.2875C>T (p.Arg959Trp) | Missense | <0.01% | Reduced ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; missense mutations that disrupt ATPase or actin-binding domains.
Gain of Function (GOF)
Not reported for MYO5A.
Dominant Negative (DN)
Heterozygous missense mutations may interfere with dimerization or cargo binding, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • actin filament binding |
| • calmodulin binding | • melanosome transport |
| • vesicle-mediated transport | • protein localization to melanosome |
Pathways
• Melanosome transport
• Actin cytoskeleton regulation
• Vesicle trafficking along actin filaments
Protein Summary
Myosin VA is a 215 kDa protein composed of an N-terminal motor domain with ATPase and actin-binding activities, a neck region with IQ motifs that bind calmodulin, and a C-terminal tail domain that interacts with cargo adaptors such as melanophilin. It functions as a processive motor that transports vesicles along actin filaments, critical for melanosome distribution in melanocytes and for synaptic vesicle trafficking in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO5A Knockout HEK293 Cell Line | EDJ-KQ5292 | Human | 4644 | Details Get a Quote |
| MYO5A Knockout HeLa Cell Line | EDJ-KQ27114 | Human | 4644 | Details Get a Quote |
| MYO5A Knockout A-549 Cell Line | EDJ-KQ28336 | Human | 4644 | Details Get a Quote |
| MYO5A Knockout HCT 116 Cell Line | EDJ-KQ28337 | Human | 4644 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
