RBCC Red Blood Cell Collection

MYO1E_HUMAN

Source: PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MYO1E , MYO1C
Protein names and data: MYO1E_HUMAN , Unconventional myosin-Ie , Myosin-Ic; Unconventional myosin 1E Lenght: 1108 a.a.
Mass: 127062 Da
fasta formatted sequence
Function: Myosins are actin-based motor molecules with ATPase activity. 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. 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.
Disease: ( OMIM: 601479 614131 ) Focal segmental glomerulosclerosis 6 (FSGS6) [MIM:614131]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle. Cytoplasmic vesicle, clathrin-coated vesicle. Cell junction (By similarity). Note=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.
Tissue specificity: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes.

Genetic variants

159 - 159 A -> P (in FSGS6; the mutant shows diffuse cytosolic localization with a punctate pattern). VAR_065958
185 - 185 D -> G (in dbSNP:rs141565214). VAR_065959 141565214
221 - 221 A -> V. VAR_065960
795 - 795 G -> R (in dbSNP:rs180951130). VAR_065961 180951130
1049 - 1049 P -> H (in dbSNP:rs147579391). VAR_065962 147579391

Database cross-references

UniProt: Q12965
Ensembl: ENST00000288235
MIM: 601479
MIM: 614131
neXtProt: NX_Q12965
Antibodypedia: Q12965 (may not find the protein thus also not any antibody)
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