MYO1E
Function
Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. Binds to membranes containing anionic phospholipids via its tail domain. Involved in clathrin-mediated endocytosis and intracellular movement of clathrin-coated vesicles (PubMed:36316095). Required for normal morphology of the glomerular basement membrane, normal development of foot processes by kidney podocytes and normal kidney function. In dendritic cells, may control the movement of class II-containing cytoplasmic vesicles along the actin cytoskeleton by connecting them with the actin network via ARL14EP and ARL14.
Involvement in disease
Focal segmental glomerulosclerosis 6
FSGS6
A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. FSGS6 is a childhood-onset disorder resulting in nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Tissue Specificity
Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cytoplasmic vesicle
- Cytoplasmic vesicle
- Clathrin-coated vesicle
- Cell junction
- Colocalizes with F-actin (By similarity). In cultured podocytes, it localizes close to and is associated with the cytoplasmic membrane, with enrichment at the lamellipodia tips. Colocalizes with cytoplasmic vesicles, including endocytic clathrin-coated vesicles. Colocalizes with dynamin at cytoplasmic vesicles.
Alternative names
MYO1C, MYO1E, Unconventional myosin-Ie, Myosin-Ic, Unconventional myosin 1E