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FLASH GENE
Symbol BFSP1 contributors: mct/npt - updated : 26-10-2018
HGNC name beaded filament structural protein 1, filensin
HGNC id 1040
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal head domain
  • a central rod
  • a C terminal tail domain, and C-terminal BFSP1 fragments containing the myristoylation sequence colocalised with MIP in the same plasma membrane compartments of lens fibre cells
  • HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family, type VI
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • ocular lens fiber cell-specific cytoskeletal protein
  • critical role for BFSP1, BFSP2 and their filamentous polymers in establishing the optical properties of the eye lens and in maintaining its transparency
  • playing an important role for lens development by maintaining lens fiber cell shape conformation and lens transparency
  • BFSP1, BFSP2 are essential to the optical properties of the lens
  • is a cytoskeletal protein expressed in the eye lens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • major components of the beaded filament, a cytoskeletal structure that is abundant in the fiber cells of the ocular lens
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS