Sequence Detail

ID/Version

Q6NVD9 Q63832 Q8VDD6 Q6P5N4 (UniProt | EBI)

Last sequence update: 2004-07-05
Last annotation update: 2024-01-24

Sequence description from provider

RecName: Full=Phakinin {ECO:0000303|PubMed:21745462};AltName: Full=49 kDa cytoskeletal protein;AltName: Full=Beaded filament structural protein 2 {ECO:0000303|PubMed:15037121};AltName: Full=Lens fiber cell beaded filament protein CP 47 {ECO:0000250|UniPro

Provider

SWISS-PROT

Sequence

Polypeptide 416 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Bfsp2	beaded filament structural protein 2, phakinin	18	99	2	8

Sequence references in MGI

J:82327 Sandilands A, et al., Knockout of the intermediate filament protein CP49 destabilises the lens fibre cell cytoskeleton and decreases lens optical quality, but does not induce cataract. Exp Eye Res. 2003 Mar;76(3):385-91
J:85243 Sandilands A, et al., Bfsp2 mutation found in mouse 129 strains causes the loss of CP49' and induces vimentin-dependent changes in the lens fibre cell cytoskeleton. Exp Eye Res. 2004 Apr;78(4):875-89
J:108387 Alizadeh A, et al., Targeted genomic deletion of the lens-specific intermediate filament protein CP49. Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3722-7
J:133792 Wyatt K, et al., A role for lengsin, a recruited enzyme, in terminal differentiation in the vertebrate lens. J Biol Chem. 2008 Mar 7;283(10):6607-15
J:144160 Alizadeh A, et al., Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):884-91
J:146671 Yoon KH, et al., Periplakin interactions with lens intermediate and beaded filaments. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1283-9
J:175548 Maddala R, et al., Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers. Dev Biol. 2011 Sep 1;357(1):179-90
J:287081 FitzGerald P, et al., Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium. Mol Vis. 2016;22:970-89