MYO1E (Myosin IE): Actin-Based Motor Protein in Kidney and Immune Function
A non-muscle myosin critical for podocyte integrity, immune cell migration, and linked to focal segmental glomerulosclerosis (FSGS) and cancer progression.
Gene Information Card
| Symbol | MYO1E |
|---|---|
| Full Name | myosin IE |
| Gene Type | protein coding |
| Chromosomal Location | 15q21.2 |
| NCBI Gene ID | 4643 ncbi.nlm.nih.gov/gene/4643 |
| Ensembl ID | ENSG00000157404 |
| UniProt ID | Q12965 |
| OMIM ID | 601479 |
| HGNC ID | 7600 |
| Aliases | HuncM-IC, MYO1C, Myosin-IE |
Description
MYO1E encodes myosin IE, a member of the class I myosin family of actin-based molecular motors. This protein is involved in intracellular vesicle transport, membrane trafficking, and cytoskeletal dynamics. It is highly expressed in the kidney, particularly in podocytes, where it is essential for maintaining the glomerular filtration barrier. Mutations in MYO1E are associated with autosomal recessive focal segmental glomerulosclerosis (FSGS). Additionally, MYO1E plays roles in immune cell migration and cancer cell invasion, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Focal segmental glomerulosclerosis (FSGS) | Loss-of-function mutations in MYO1E disrupt podocyte actin cytoskeleton, leading to foot process effacement and proteinuria. | ClinVar, OMIM |
| Nephrotic syndrome | MYO1E mutations cause steroid-resistant nephrotic syndrome, a clinical presentation of FSGS. | OMIM, PubMed |
| Cancer (e.g., breast, lung) | Altered MYO1E expression affects cell migration and invasion, potentially promoting metastasis. | COSMIC, PubMed |
| Immunodeficiency | MYO1E is involved in immune cell migration; defects may impair immune response. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | Highest expression in renal podocytes |
| Lung | Medium | Moderate expression in alveolar cells |
| Brain | Low | Low expression in neurons |
| Liver | Low | Minimal expression |
| Heart | Low | Minimal expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Podocytes | High | Critical for foot process integrity |
| Macrophages | Medium | Involved in phagocytosis and migration |
| HEK293 | Medium | Commonly used for functional studies |
| A549 (lung cancer) | Medium | Expression correlates with invasive potential |
| MCF7 (breast cancer) | Low | Reduced expression in some cancer lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.A159V | Missense | Rare | Disrupts actin binding, leading to FSGS |
| p.R163H | Missense | Rare | Impaired motor activity, associated with nephrotic syndrome |
| p.Y695X | Nonsense | Very rare | Truncated protein, loss of function |
| p.D718N | Missense | Rare | Alters ATPase activity, potential dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Most MYO1E mutations in FSGS are loss-of-function, leading to podocyte cytoskeletal disruption.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may enhance migration.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with actin binding or motor activity.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • microtubule motor activity | • actin filament binding |
| • calmodulin binding | • phospholipid binding |
| • cytoskeleton organization | • vesicle-mediated transport |
| • cell migration | • podocyte development |
Pathways
• Actin cytoskeleton regulation
• Focal adhesion signaling
• Vesicle trafficking
• Podocyte differentiation
• Immune cell migration
Protein Summary
Myosin IE is a single-headed myosin that binds actin and hydrolyzes ATP to generate force for membrane trafficking and cytoskeletal remodeling. It contains an N-terminal motor domain, a neck region with IQ motifs for calmodulin binding, and a C-terminal tail that interacts with membranes. In podocytes, MYO1E anchors the slit diaphragm and maintains foot process architecture. Its role in cancer involves promoting cell motility and invasion, while in immune cells it facilitates chemotaxis and phagocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYO1E Knockout HEK293 Cell Line | EDJ-KQ5291 | Human | 4643 | Details Get a Quote |
| MYO1E Knockout A-549 Cell Line | EDJ-KQ28333 | Human | 4643 | Details Get a Quote |
| MYO1E Knockout HCT 116 Cell Line | EDJ-KQ28334 | Human | 4643 | Details Get a Quote |
| MYO1E Knockout HeLa Cell Line | EDJ-KQ28335 | Human | 4643 | Details Get a Quote |
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