BFSP1: Difference between revisions

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'''BFSP1''' is a [[gene]] that encodes the [[protein]] filensin in [[humans]].<ref name="pmid9787085">{{cite journal | vauthors = Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N | title = Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1 | journal = Genomics | volume = 53 | issue = 1 | pages = 114–6 |date=Dec 1998 | pmid = 9787085 | pmc =  | doi = 10.1006/geno.1998.5478 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BFSP1 beaded filament structural protein 1, filensin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=631| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Beaded filament structural protein 1, filensin
| HGNCid = 1040
| Symbol = BFSP1
| AltSymbols =; CP115; CP94; FILENSIN; LIFL-H
| OMIM = 603307
| ECnumber = 
| Homologene = 922
| MGIid = 101770
| GeneAtlas_image1 = PBB_GE_BFSP1_206746_at_tn.png
| Function = {{GNF_GO|id=GO:0000175 |text = 3'-5'-exoribonuclease activity}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005200 |text = structural constituent of cytoskeleton}} {{GNF_GO|id=GO:0005212 |text = structural constituent of eye lens}} {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005882 |text = intermediate filament}} {{GNF_GO|id=GO:0016020 |text = membrane}}
  | Process = {{GNF_GO|id=GO:0006396 |text = RNA processing}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 631
    | Hs_Ensembl = ENSG00000125864
    | Hs_RefseqProtein = NP_001186
    | Hs_RefseqmRNA = NM_001195
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 17422550
    | Hs_GenLoc_end = 17487605
    | Hs_Uniprot = Q12934
    | Mm_EntrezGene = 12075
    | Mm_Ensembl = ENSMUSG00000027420
    | Mm_RefseqmRNA = XM_001004280
    | Mm_RefseqProtein = XP_001004280
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 143517969
    | Mm_GenLoc_end = 143554614
    | Mm_Uniprot = 
  }}
}}
'''Beaded filament structural protein 1, filensin''', also known as '''BFSP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: BFSP1 beaded filament structural protein 1, filensin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=631| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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).<ref name="entrez">{{cite web | title = Entrez Gene: BFSP1 beaded filament structural protein 1, filensin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=631| accessdate = }}</ref>
| summary_text = More than 99% of the [[vertebrate]] [[lens (anatomy)|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).<ref name="entrez" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|BFSP1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Brunkener M, Georgatos SD |title=Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells. |journal=J. Cell. Sci. |volume=103 ( Pt 3) |issue=  |pages= 709-18 |year= 1993 |pmid= 1478967 |doi=  }}
*{{cite journal  | vauthors=Brunkener M, Georgatos SD |title=Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells |journal=J. Cell Sci. |volume=103 |issue=  3|pages= 709–18 |year= 1993 |pmid= 1478967 |doi=  }}
*{{cite journal  | author=Merdes A, Brunkener M, Horstmann H, Georgatos SD |title=Filensin: a new vimentin-binding, polymerization-competent, and membrane-associated protein of the lens fiber cell. |journal=J. Cell Biol. |volume=115 |issue= 2 |pages= 397-410 |year= 1991 |pmid= 1918147 |doi=  }}
*{{cite journal  | vauthors=Merdes A, Brunkener M, Horstmann H, Georgatos SD |title=Filensin: a new vimentin-binding, polymerization-competent, and membrane-associated protein of the lens fiber cell |journal=J. Cell Biol. |volume=115 |issue= 2 |pages= 397–410 |year= 1991 |pmid= 1918147 |doi=10.1083/jcb.115.2.397  | pmc=2289143 }}
*{{cite journal  | author=Merdes A, Gounari F, Georgatos SD |title=The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin. |journal=J. Cell Biol. |volume=123 |issue= 6 Pt 1 |pages= 1507-16 |year= 1994 |pmid= 7504675 |doi=  }}
*{{cite journal  | vauthors=Merdes A, Gounari F, Georgatos SD |title=The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin |journal=J. Cell Biol. |volume=123 |issue= 6 Pt 1 |pages= 1507–16 |year= 1994 |pmid= 7504675 |doi=10.1083/jcb.123.6.1507  | pmc=2290875 }}
*{{cite journal  | author=Sandilands A, Prescott AR, Carter JM, ''et al.'' |title=Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation. |journal=J. Cell. Sci. |volume=108 ( Pt 4) |issue=  |pages= 1397-406 |year= 1995 |pmid= 7615661 |doi=  }}
*{{cite journal  | vauthors=Sandilands A, Prescott AR, Carter JM |title=Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation |journal=J. Cell Sci. |volume=108 |issue=  4|pages= 1397–406 |year= 1995 |pmid= 7615661 |doi=  |display-authors=etal}}
*{{cite journal  | author=Hess JF, Casselman JT, FitzGerald PG |title=cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family? |journal=Curr. Eye Res. |volume=12 |issue= 1 |pages= 77-88 |year= 1993 |pmid= 7679620 |doi=  }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, FitzGerald PG |title=cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family? |journal=Curr. Eye Res. |volume=12 |issue= 1 |pages= 77–88 |year= 1993 |pmid= 7679620 |doi=10.3109/02713689308999499 }}
*{{cite journal  | author=Hess JF, Casselman JT, FitzGerald PG |title=Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. |journal=Curr. Eye Res. |volume=14 |issue= 1 |pages= 11-8 |year= 1995 |pmid= 7720401 |doi=  }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, FitzGerald PG |title=Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47 |journal=Curr. Eye Res. |volume=14 |issue= 1 |pages= 11–8 |year= 1995 |pmid= 7720401 |doi=10.3109/02713689508999909 }}
*{{cite journal  | author=Carter JM, Hutcheson AM, Quinlan RA |title=In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin. |journal=Exp. Eye Res. |volume=60 |issue= 2 |pages= 181-92 |year= 1995 |pmid= 7781747 |doi=  }}
*{{cite journal  | vauthors=Carter JM, Hutcheson AM, Quinlan RA |title=In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin |journal=Exp. Eye Res. |volume=60 |issue= 2 |pages= 181–92 |year= 1995 |pmid= 7781747 |doi=10.1016/S0014-4835(95)80009-3 }}
*{{cite journal  | author=Hess JF, Casselman JT, Kong AP, FitzGerald PG |title=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. |journal=Exp. Eye Res. |volume=66 |issue= 5 |pages= 625-44 |year= 1998 |pmid= 9628810 |doi= 10.1006/exer.1998.0478 }}
*{{cite journal  | vauthors=Hess JF, Casselman JT, Kong AP, FitzGerald PG |title=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 |journal=Exp. Eye Res. |volume=66 |issue= 5 |pages= 625–44 |year= 1998 |pmid= 9628810 |doi= 10.1006/exer.1998.0478 }}
*{{cite journal  | author=Rendtorff ND, Hansen C, Silahtaroglu A, ''et al.'' |title=Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1. |journal=Genomics |volume=53 |issue= 1 |pages= 114-6 |year= 1998 |pmid= 9787085 |doi= 10.1006/geno.1998.5478 }}
*{{cite journal  | vauthors=Yamada K, Tomita H, Yoshiura K |title=An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12 |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 535–9 |year= 2000 |pmid= 10909854 |doi= 10.1038/sj.ejhg.5200485 |display-authors=etal}}
*{{cite journal  | author=Yamada K, Tomita H, Yoshiura K, ''et al.'' |title=An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 7 |pages= 535-9 |year= 2000 |pmid= 10909854 |doi= 10.1038/sj.ejhg.5200485 }}
*{{cite journal  | vauthors=Deloukas P, Matthews LH, Ashurst J |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a |display-authors=etal}}
*{{cite journal  | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Ramachandran RD, Perumalsamy V, Hejtmancik JF |title=Autosomal recessive juvenile onset cataract associated with mutation in BFSP1 |journal=Hum. Genet. |volume=121 |issue= 3–4 |pages= 475–82 |year= 2007 |pmid= 17225135 |doi= 10.1007/s00439-006-0319-6 }}
*{{cite journal  | author=Ramachandran RD, Perumalsamy V, Hejtmancik JF |title=Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. |journal=Hum. Genet. |volume=121 |issue= 3-4 |pages= 475-82 |year= 2007 |pmid= 17225135 |doi= 10.1007/s00439-006-0319-6 }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 19:23, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".

External links

Further reading



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