BFSP1
| Beaded filament structural protein 1, filensin | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | BFSP1 ; CP115; CP94; CTRCT33; LIFL-H | ||||||||||||
| External IDs | OMIM: 603307 MGI: 101770 HomoloGene: 922 GeneCards: BFSP1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 631 | 12075 | |||||||||||
| Ensembl | ENSG00000125864 | ENSMUSG00000027420 | |||||||||||
| UniProt | Q12934 | A2AMT1 | |||||||||||
| RefSeq (mRNA) | NM_001161705 | NM_001291061 | |||||||||||
| RefSeq (protein) | NP_001155177 | NP_001277990 | |||||||||||
| Location (UCSC) |
Chr 20: 17.49 – 17.57 Mb |
Chr 2: 143.83 – 143.86 Mb | |||||||||||
| PubMed search | |||||||||||||
BFSP1 is a gene that encodes the protein filensin in humans.[1][2]
More than 99% of the vertebrate ocular lens is made up 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).[2]
References
- ↑ Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N (Dec 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.
- 1 2 "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".
Further reading
- Brunkener M, Georgatos SD (1993). "Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells". J. Cell. Sci. 103 (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. doi:10.1083/jcb.115.2.397. PMC 2289143. PMID 1918147.
- 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. doi:10.1083/jcb.123.6.1507. PMC 2290875. PMID 7504675.
- 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 (4): 1397–406. PMID 7615661.
- 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. doi:10.3109/02713689308999499. PMID 7679620.
- 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. doi:10.3109/02713689508999909. PMID 7720401.
- 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. doi:10.1016/S0014-4835(95)80009-3. PMID 7781747.
- 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.
- 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.
- 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.
- 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. PMC 139241. PMID 12477932.
- 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.
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