BFSP1
Sign in to saveAlso known as CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.
Gene data
BFSP1- Name
- beaded filament structural protein 1
- Type
- protein-coding
- Position
- 17,493,905–17,569,220 (−)
- Aliases
- CP115, CP94, CTRCT33, LIFL-H
- Ensembl
- ENSG00000125864
- RefSeq RNA
- NM_001161705.2, NM_001195.5, NM_001278606.2, NM_001278607.2, NM_001278608.2
- RefSeq protein
- NP_001155177.1, NP_001186.1, NP_001265535.1, NP_001265536.1, NP_001265537.1
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 Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
beaded filament structural protein 1
- Symbol
- BFSP1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:17,493,905-17,569,220
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 7 more facts
- exact match
- identifiers.org/ncbigene/631
- found in taxon
- Homo sapiens
- HomoloGene ID
- 922
- chromosome
- human chromosome 20
- genomic start
- 17474550
- genomic end
- 17549865
- cytogenetic location
- 20p12.1
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- References
- External links
- Further reading
BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.
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).
Excerpted from Wikipedia’s “BFSP1” article, available under the CC BY-SA 4.0 licence.