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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
Corresponding disease
ARCC3 congenital cataract, autosomal recessive 3
Location 20p12.1      Physical location : 17.474.550 - 17.539.605
Synonym name
  • lens intermediate filament-like heavy
  • filensin
  • lens fiber cell beaded-filament structural protein CP 115
  • Synonym symbol(s) LIFRH, FLS, LIFLH, RP4-531H16.2, CP115, CP94, FILENSIN, CP95
    DNA
    TYPE functioning gene
    STRUCTURE 37.42 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 ]
    Physical map
    PPIP11 20p12.1 peptidylprolyl isomerase (cyclophilin) pseudogene 11 C20orf23 20p11.23 chromosome 20 open reading frame 23 RPLP0P1 20p11.23 ribosomal protein, large, P0 pseudogene 1 RPL7AL3 20p11.23 ribosomal protein L7a-like 3 SNRPB2 20p12.2-p11.22 small nuclear ribonucleoprotein polypeptide B'' OTOR 20p12.1-p11.23 otoraplin PCSK2 20p11.2 proprotein convertase subtilisin/kexin type 2 BFSP1 20p11.23 beaded filament structural protein 1, filensin RPS27AP2 20p11.2 ribosomal protein S27a pseudogene 2 DSTN 20p11.23 destrin (actin depolymerizing factor) RRBP1 20p12-p11.2 ribosome binding protein 1 homolog 180kDa (dog) C20orf179 20 chromosome 20 open reading frame 179 SNX5 20pter-q11.23 sorting nexin 5 C20orf72 20p11.23 chromosome 20 open reading frame 72 PTMAP3 20p11.23 prothymosin, alpha pseudogene 3 (gene sequence 34) ZNF339 20pter-q11.23 zinc finger protein 339 RPL15P1 20p11.23 ribosomal protein L15 pseudogene 1 CSRP2BP 20p11.23 CSRP2 binding protein ZNF133 20p11.23-p11.22 zinc finger protein 133 (clone pHZ-13) C20orf12 20p11.23 chromosome 20 open reading frame 12 POLR3F 20p11.23 polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa RBBP9 20p11.2 retinoblastoma binding protein 9 RPS19P1 20p11.23 ribosomal protein S19 pseudogene 1 SEC23B 20pter-p12.3 Sec23 homolog B (S. cerevisiae) LOC388789 20 hypothetical gene supported by AF147354 HARS2 20p11.23 histidyl-tRNA synthetase 2 HSPC072 20p11.23 HSPC072 protein C20orf78 20p11.23 chromosome 20 open reading frame 78 C20orf79 20 chromosome 20 open reading frame 79
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2217 74.5 665 - Deloukas (2001)
    8 - 2077 - - - -
    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   
    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
  • playing an important role for lens development by maintaining lens fiber cell shape conformation and lens transparency
  • 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