| Gene Information | |
|---|---|
| Gene Name | BFSP1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 665 |
| Protein Names | Filensin (Beaded filament structural protein 1) (Lens fiber cell beaded-filament structural protein CP 115) (CP115) (Lens intermediate filament-like heavy) (LIFL-H) [Cleaved into: Filensin C-terminal fragment; Filensin N-terminal fragment] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 810 ( ENSG00000125864 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q12934 |
| Gene Card | BFSP1 |
| Uniprot ID | Q12934 |
| Pfam | PF00038 |
| In ASD | no |
| Allosteric Prediction | no (-1.421043428) |
| Ortholog in Animals | Alpaca_ BFSP1 ( ortholog_one2one ) Dog_ BFSP1 ( ortholog_one2one ) GuineaPig_ BFSP1 ( ortholog_one2one ) Macaque_ BFSP1 ( ortholog_one2one ) Mouse_ Bfsp1 ( ortholog_one2one ) Pig_ BFSP1 ( ortholog_one2one ) Rat_ Bfsp1 ( ortholog_one2one ) Rabbit_ BFSP1 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Expressed in the cortex and nucleus of the retina lens (at protein level). {ECO:0000269|PubMed:30790544, ECO:0000269|PubMed:7720401}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | NA |
| DBSNP | rs6080719 rs1085307126 rs16999317 |
| Subcellular location [CC] | Cell membrane {ECO:0000250|UniProtKB:Q06002}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q06002}; Cytoplasmic side {ECO:0000250|UniProtKB:Q06002}. Cytoplasm {ECO:0000250|UniProtKB:Q02435}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q06002}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q06002}. |
| Mouse PG classification | NA |
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