Bfsp1 Gene Summary [Mouse]
A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation and lens fiber cell development. Located in cytoplasm; intermediate filament; and plasma membrane. Is expressed in several structures, including eye and male reproductive gland or organ. Human ortholog(s) of this gene implicated in cataract 33. Orthologous to human BFSP1 (beaded filament structural protein 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Bfsp1 |
| Official Name | beaded filament structural protein 1, in lens-CP94 [Source:MGI Symbol;Acc:MGI:101770] |
| Ensembl ID | ENSMUSG00000027420 |
| Bio databases IDs | |
| Aliases | beaded filament structural protein 1, in lens-CP94 |
| Synonyms | beaded filament structural protein 1, beaded filament structural protein 1, in lens-CP94, CP115, CP94, CP95, CP97, CTRCT33, Filensin, LIFL-H |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Bfsp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of eye lens
- Nitrate and nitrite sensing
- TPR/MLP1/MLP2-like protein
- structural constituent of cytoskeleton
- enzyme
- protein binding
- Intermediate filament protein
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- androgenic alopecia
- multiple types cataract 33
- congenital cataract
- cataract disease
- nuclear cataract type 33
- punctate lamellar cataract type 33
role in cell
- organization
- maturation
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytoskeleton
- cellular membrane
- Plasma Membrane
- intermediate filaments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Bfsp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell maturation
- intermediate filament organization
- lens fiber cell development
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cell cortex
- intermediate filament
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- structural constituent of cytoskeleton
- structural constituent of eye lens