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Filensin; beaded filament structural protein 1; lens fiber cell beaded-filament structural protein CP 115; CP115; lens intermediate filament-like heavy; LIFL-H (BFSP1)
Function:
- associates with BFSP2
Structure: belongs to the intermediate filament family
Compartment:
- membrane, cytoplasm, cytoskeleton
- membrane- & cytoskeleton-associated
Alternative splicing: named isoforms=2
Expression: ocular lens
Pathology:
- defects in BFSP1 are the cause of juvenile-onset autosomal recessive congenital cataracts
General
cytoskeletal protein
phosphoprotein
Properties
SIZE: entity length = 665 aa
MW = 75 kD
COMPARTMENT: cytoplasm
MOTIF: Head {1-40}
MOTIF: Ser phosphorylation site {S5}
Rod {41-320}
MOTIF: Coil 1A {41-75}
Linker 1 {76-84}
Coil 1B {85-184}
Linker 12 {185-201}
Coil 2 {202-320}
Tail {321-665}
Database Correlations
OMIM correlations
UniProt Q12934
Pfam PF00038
Entrez Gene 631
Kegg hsa:631
References
UniProt :accession Q12934