BFSP1

BFSP1
Identifiers
Aliases	BFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDs	OMIM: 603307; MGI: 101770; HomoloGene: 922; GeneCards: BFSP1; OMA:BFSP1 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	17,569,220 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	143,705,093 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; gonad; ; testicle; ; granulocyte; ; C1 segment; ; stromal cell of endometrium; ; prefrontal cortex; ; popliteal artery; ; tibial arteries; ; Descending thoracic aorta;
	Top expressed in
	lens; ; morula; ; epithelium of lens; ; corneal stroma; ; retinal pigment epithelium; ; conjunctival fornix; ; iris; ; ciliary body; ; seminiferous tubule; ; jejunum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural constituent of cytoskeleton; protein binding; structural constituent of eye lens;
Cellular component	cell cortex; intermediate filament; cytoskeleton; membrane; cytoplasm; plasma membrane;
Biological process	cytoskeleton organization; cell maturation; lens fiber cell development; biological process;
	Sources:Amigo / QuickGO
Orthologs
	631
	12075
	ENSG00000125864
	ENSMUSG00000027420
	Q12934
	A2AMT1
	NM_001161705; NM_001195; NM_001278606; NM_001278607; NM_001278608
	NM_001291061; NM_009751
	NP_001155177; NP_001186; NP_001265535; NP_001265536; NP_001265537
	NP_001277990; NP_033881
	Wikidata
View/Edit Human	View/Edit Mouse

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

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000125864 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027420 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N (October 1998). "Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1". Genomics. 53 (1): 114–116. doi:10.1006/geno.1998.5478. PMID 9787085.
^ ^a ^b "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".
^ Chaves JM, Gupta R, Srivastava K, Srivastava O (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.
^ 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.

Brunkener M, Georgatos SD (November 1992). "Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells". Journal of Cell Science. 103 ( Pt 3) (3): 709–718. doi:10.1242/jcs.103.3.709. PMID 1478967.
Merdes A, Brunkener M, Horstmann H, Georgatos SD (October 1991). "Filensin: a new vimentin-binding, polymerization-competent, and membrane-associated protein of the lens fiber cell". The Journal of Cell Biology. 115 (2): 397–410. doi:10.1083/jcb.115.2.397. PMC 2289143. PMID 1918147.
Merdes A, Gounari F, Georgatos SD (December 1993). "The 47-kD lens-specific protein phakinin is a tailless intermediate filament protein and an assembly partner of filensin". The Journal of Cell Biology. 123 (6 Pt 1): 1507–1516. doi:10.1083/jcb.123.6.1507. PMC 2290875. PMID 7504675.
Sandilands A, Prescott AR, Carter JM, Hutcheson AM, Quinlan RA, Richards J, FitzGerald PG (April 1995). "Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation". Journal of Cell Science. 108 ( Pt 4) (4): 1397–1406. doi:10.1242/jcs.108.4.1397. PMID 7615661.
Hess JF, Casselman JT, FitzGerald PG (January 1993). "cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family?". Current Eye Research. 12 (1): 77–88. doi:10.3109/02713689308999499. PMID 7679620.
Hess JF, Casselman JT, FitzGerald PG (January 1995). "Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47". Current Eye Research. 14 (1): 11–18. doi:10.3109/02713689508999909. PMID 7720401.
Carter JM, Hutcheson AM, Quinlan RA (February 1995). "In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin". Experimental Eye Research. 60 (2): 181–192. doi:10.1016/S0014-4835(95)80009-3. PMID 7781747.
Hess JF, Casselman JT, Kong AP, FitzGerald PG (May 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". Experimental Eye Research. 66 (5): 625–644. doi:10.1006/exer.1998.0478. PMID 9628810.
Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, et al. (July 2000). "An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12". European Journal of Human Genetics. 8 (7): 535–539. doi:10.1038/sj.ejhg.5200485. PMID 10909854.
Ramachandran RD, Perumalsamy V, Hejtmancik JF (May 2007). "Autosomal recessive juvenile onset cataract associated with mutation in BFSP1". Human Genetics. 121 (3–4): 475–482. doi:10.1007/s00439-006-0319-6. PMID 17225135. S2CID 37438074.

This article on a gene on human chromosome 20 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000125864 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid9787085-5] Rendtorff ND, Hansen C, Silahtaroglu A, Henriksen KF, Tommerup N (October 1998). "Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1". Genomics. 53 (1): 114–116. doi:10.1006/geno.1998.5478. PMID 9787085.

[entrez-6] "Entrez Gene: BFSP1 beaded filament structural protein 1, filensin".

[pmid28935373-7] Chaves JM, Gupta R, Srivastava K, Srivastava O (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.

[interfil-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.

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References

External links

Further reading