Version 5.4
Homo sapiens Gene: BFSP1
Summary
InnateDB Gene IDBG-55951.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BFSP1
Gene Name beaded filament structural protein 1, filensin
Synonyms CP115; CP94; CTRCT33; LIFL-H
Species Homo sapiens
Ensembl Gene ENSG00000125864
Encoded Proteins
IDBP-55955
beaded filament structural protein 1, filensin
IDBP-55957
beaded filament structural protein 1, filensin
IDBP-587647
beaded filament structural protein 1, filensin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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, 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). Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:17493905-17569220
Strand Reverse strand
Band p12.1
Transcripts
ENST00000377873 ENSP00000367104
ENST00000377868 ENSP00000367099
ENST00000492424
ENST00000473415
ENST00000536626 ENSP00000442522
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005212 structural constituent of eye lens
GO:0005515 protein binding
Biological Process
GO:0008150 biological_process
GO:0048469 cell maturation
GO:0070307 lens fiber cell development
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027420
View Gene Order
ENSBTAG00000021867
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.129702
RefSeq NM_001161705 NM_001195 NM_001278606 NM_001278607 NM_001278608
HUGO
OMIM
CCDS CCDS13126 CCDS54448 CCDS63229
HPRD 04494
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca