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MYO1E

Chr 15q22.2

myosin IE

Aliases:
MYO1C, HuncM-IC, MGC104638
MANE:
ENST00000288235.9
OMIM: 601479 ↗NCBI: 4643 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal

  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • familial idiopathic steroid-resistant nephrotic syndrome

    0.76

  • focal segmental glomerulosclerosis

    0.69

  • nephrotic syndrome

    0.40

  • benign neoplasm of eye

    0.36

  • neurodegenerative disease

    0.30

  • Abnormal pupillary function

    0.25

  • disease of peritoneum

    0.25

  • Dupuytren Contracture

    0.23

  • head injury

    0.21

  • tooth disorder

    0.20

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Unconventional myosin-Ie

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

Diseases associated with MYO1E

Curated MONDO disease pages that list MYO1E among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.