BFSP1

BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.[5][6]

BFSP1
Identifiers
Aliases	BFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDs	OMIM: 603307 MGI: 101770 HomoloGene: 922 GeneCards: BFSP1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p12.1 Start 17,493,905 bp[1] End 17,569,220 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G1 Start 143,826,528 bp[2] End 143,863,173 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • structural constituent of cytoskeleton • GO:0001948 protein binding • structural constituent of eye lens Cellular component • cell cortex • intermediate filament • cytoskeleton • membrane • cytoplasm • cell membrane Biological process • cytoskeleton organization • cell maturation • lens fiber cell development • biological process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	631	12075
Ensembl	ENSG00000125864	ENSMUSG00000027420
UniProt	Q12934	A2AMT1
RefSeq (mRNA)	NM_001161705 NM_001195 NM_001278606 NM_001278607 NM_001278608	NM_001291061 NM_009751
RefSeq (protein)	NP_001155177 NP_001186 NP_001265535 NP_001265536 NP_001265537	NP_001277990 NP_033881
Location (UCSC)	Chr 20: 17.49 – 17.57 Mb	Chr 2: 143.83 – 143.86 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

More than 99% of the vertebrate ocular lens is made up of terminally differentiated lens fiber cells. Two lens-specific intermediate filament proteins, phakinin (also known as CP49) 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).[6]

The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.[7][8]

References

1. GRCh38: Ensembl release 89: ENSG00000125864 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027420 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".
7. Chaves, JM; Gupta, R; Srivastava, K; Srivastava, O (9 December 2017). "Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin". Biochemical and Biophysical Research Communications. 494 (1–2): 402–408. doi:10.1016/j.bbrc.2017.09.088. PMID 28935373.
8. Szeverenyi I, Cassidy AJ, Chung CW, Lee BT, Common JE, Ogg SC, Chen H, Sim SY, Goh WL, Ng KW, Simpson JA, Chee LL, Eng GH, Li B, Lunny DP, Chuon D, Venkatesh A, Khoo KH, McLean WH, Lim YP, Lane EB. "Human Intermediate Filament Database". PMID 18033728.

External links

• Human BFSP1 genome location and BFSP1 gene details page in the UCSC Genome Browser.

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. S2CID 37438074.