BFSP1

GENE INFORMATION

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Gene name

BFSP1 (HGNC Symbol)

Synonyms

CP115, CP94, filensin, LIFL-H

Description

Beaded filament structural protein 1, filensin (HGNC Symbol)

Entrez gene summary

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Chromosome

20

Cytoband

p12.1

Chromosome location (bp)

17493905 - 17569220

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000125864 (version 78.38)

Entrez gene

631

UniProt

Q12934 (UniProt - Evidence at protein level)

neXtProt

NX_Q12934

Antibodypedia

BFSP1 antibodies
 

PROTEIN VIEW

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BFSP1-001
 
BFSP1-002
 
BFSP1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BFSP1-001 ENSP00000367104
ENST00000377873
Q12934
Show all »
Show » Show » 665 74.5 No 0
BFSP1-002 ENSP00000367099
ENST00000377868
Q12934
Show all »
Show » Show » 540 60.3 No 0
BFSP1-201 ENSP00000442522
ENST00000536626
Q12934
Show all »
Show » Show » 526 58.6 No 0