BFSP1

BFSP1
Identifiers
Aliases	BFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1
External IDs	OMIM: 603307; MGI: 101770; HomoloGene: 922; GeneCards: BFSP1; OMA:BFSP1 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	17,569,220 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	143,705,093 bp
RNA expression pattern
	Top expressed in
	tendon of biceps brachii; ; gonad; ; testicle; ; granulocyte; ; C1 segment; ; stromal cell of endometrium; ; prefrontal cortex; ; popliteal artery; ; tibial arteries; ; Descending thoracic aorta;
	Top expressed in
	lens; ; morula; ; epithelium of lens; ; corneal stroma; ; retinal pigment epithelium; ; conjunctival fornix; ; iris; ; ciliary body; ; seminiferous tubule; ; jejunum;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	structural constituent of cytoskeleton; protein binding; structural constituent of eye lens;
Cellular component	cell cortex; intermediate filament; cytoskeleton; membrane; cytoplasm; plasma membrane;
Biological process	cytoskeleton organization; cell maturation; lens fiber cell development; biological process;
	Sources:Amigo / QuickGO
Orthologs
	631
	12075
	ENSG00000125864
	ENSMUSG00000027420
	Q12934
	A2AMT1
	NM_001161705; NM_001195; NM_001278606; NM_001278607; NM_001278608
	NM_001291061; NM_009751
	NP_001155177; NP_001186; NP_001265535; NP_001265536; NP_001265537
	NP_001277990; NP_033881
	Wikidata
View/Edit Human	View/Edit Mouse

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).

The two BFSP proteins are put into a "type VI" of intermediate filament (IF) classification. Unlike other IFs that form unbranched links, the two proteins form a network of filaments together with CRYAA.