BFSP1

BFSP1 is a gene that encodes the protein filensin ("beaded filament structural protein 1") in humans.^[5][6]

AliasesBFSP1, CP115, CP94, CTRCT33, LIFL-H, beaded filament structural protein 1

External IDsOMIM: 603307; MGI: 101770; HomoloGene: 922; GeneCards: BFSP1; OMA:BFSP1 - orthologs

Chr.Chromosome 20 (human)^[1]

End17,569,220 bp^[1]

Quick facts Identifiers, Aliases ...

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)[1] Band 20p12.1 Start 17,493,905 bp[1] End 17,569,220 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G1 Start 143,668,448 bp[2] End 143,705,093 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 631 12075 Ensembl ENSG00000125864 ENSMUSG00000027420 UniProt Q12934 A2AMT1 RefSeq (mRNA) NM_001161705 NM_001195 NM_001278606 NM_001278607 NM_001278608 NM_001291061 NM_009751 RefSeq (protein) NP_001155177 NP_001186 NP_001265535 NP_001265536 NP_001265537 NP_001277990 NP_033881 Location (UCSC) Chr 20: 17.49 – 17.57 Mb Chr 2: 143.67 – 143.71 Mb PubMed search [3] [4]
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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).^[6]

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.^[7][8]