Human Gene BFSP1 (ENST00000377873.8_9) from GENCODE V47lift37
Description: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544). (from UniProt Q12934) Gencode Transcript: ENST00000377873.8_9 Gencode Gene: ENSG00000125864.14_10 Transcript (Including UTRs) Position: hg19 chr20:17,474,550-17,512,024 Size: 37,475 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr20:17,474,719-17,511,974 Size: 37,256 Coding Exon Count: 8
ID:BFSP1_HUMAN DESCRIPTION: RecName: Full=Filensin; AltName: Full=Beaded filament structural protein 1; AltName: Full=Lens fiber cell beaded-filament structural protein CP 115; Short=CP115; AltName: Full=Lens intermediate filament-like heavy; Short=LIFL-H; SUBUNIT: Associates with BFSP2. SUBCELLULAR LOCATION: Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated. TISSUE SPECIFICITY: Lens. DISEASE: Defects in BFSP1 are the cause of cataract cortical juvenile-onset (CCJO) [MIM:611391]. A juvenile-onset cataract with opacities restricted to the cortex of the lens, not involving the nucleus. SIMILARITY: Belongs to the intermediate filament family. SEQUENCE CAUTION: Sequence=CAA76349.1; Type=Erroneous gene model prediction;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q12934
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
