BFSP1

Beaded filament structural protein 1, filensin
Identifiers
Symbols	BFSP1 ; CP115; CP94; FILENSIN; LIFL-H
External IDs	Template:OMIM5 Template:MGI HomoloGene: 922
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Beaded filament structural protein 1, filensin, also known as BFSP1, is a human gene.

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene, filensin (or CP115), are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF).

Further reading

• Brunkener M, Georgatos SD (1993). "Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells". J. Cell. Sci. 103 ( Pt 3): 709–18. PMID 1478967.
• Merdes A, Brunkener M, Horstmann H, Georgatos SD (1991). "Filensin: a new vimentin-binding, polymerization-competent, and membrane-associated protein of the lens fiber cell". J. Cell Biol. 115 (2): 397–410. PMID 1918147.CS1 maint: Multiple names: authors list (link)
• Merdes A, Gounari F, Georgatos SD (1994). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin". J. Cell Biol. 123 (6 Pt 1): 1507–16. PMID 7504675.CS1 maint: Multiple names: authors list (link)
• Sandilands A, Prescott AR, Carter JM; et al. (1995). "Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation". J. Cell. Sci. 108 ( Pt 4): 1397–406. PMID 7615661.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hess JF, Casselman JT, FitzGerald PG (1993). "cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family?". Curr. Eye Res. 12 (1): 77–88. PMID 7679620.CS1 maint: Multiple names: authors list (link)
• Hess JF, Casselman JT, FitzGerald PG (1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47". Curr. Eye Res. 14 (1): 11–8. PMID 7720401.CS1 maint: Multiple names: authors list (link)
• Carter JM, Hutcheson AM, Quinlan RA (1995). "In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin". Exp. Eye Res. 60 (2): 181–92. PMID 7781747.CS1 maint: Multiple names: authors list (link)
• Hess JF, Casselman JT, Kong AP, FitzGerald PG (1998). "Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein". Exp. Eye Res. 66 (5): 625–44. doi:10.1006/exer.1998.0478. PMID 9628810.CS1 maint: Multiple names: authors list (link)
• Rendtorff ND, Hansen C, Silahtaroglu A; et al. (1998). "Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1". Genomics. 53 (1): 114–6. doi:10.1006/geno.1998.5478. PMID 9787085.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yamada K, Tomita H, Yoshiura K; et al. (2000). "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12". Eur. J. Hum. Genet. 8 (7): 535–9. doi:10.1038/sj.ejhg.5200485. PMID 10909854.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Deloukas P, Matthews LH, Ashurst J; et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ramachandran RD, Perumalsamy V, Hejtmancik JF (2007). "Autosomal recessive juvenile onset cataract associated with mutation in BFSP1". Hum. Genet. 121 (3–4): 475–82. doi:10.1007/s00439-006-0319-6. PMID 17225135.CS1 maint: Multiple names: authors list (link)