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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
DNA
TYPE functioning gene
STRUCTURE 75.32 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure two highly conserved sequences that corresponded in their spacing to the putative enhancer regions
MAPPING cloned Y linked N status confirmed
Map pter - D20S904 - D20S104 - D20S875 - D20S118 - D20S48 - [D20S112 - D20S114 ] - D20S182 - cen
Authors Rendtorff (98)
Text [BFSP1 ]
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2217 74.5 665 - 2013 24319337
8 - 2077 - 540 - 2013 24319337
10 - 2198 - 526 - 2013 24319337
8 - 2073 - 554 - 2013 24319337
8 - 2212 - 526 - 2013 24319337
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine   
 liver    
Visualeyelens    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Visualepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text during the formation of the eyes
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