Proteins/UNIPROT:Q12934

BFSP1

ProteinUNIPROT:Q12934

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Involved in altering the calcium regulation of MIP water permeability..

Function from UniProtKB (Q12934), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

2 rows

cataract 33 has a germline basis in BFSP1DiseaseGenCC HGNC:1040|MONDO:0012665Inferred only
early-onset nuclear cataract has a germline basis in BFSP1DiseaseGenCC HGNC:1040|MONDO:0020376Inferred only

Statements

5 statements

5 statements · 1 reference database · Subject: BFSP1 · Sources: Hetionet

Order

BFSP1 covaries with BOKProteinHetionet hetionet:covaries:631-666Inferred only
CRTC1 covaries with BFSP1ProteinHetionet hetionet:covaries:23373-631Inferred only
BFSP1 interacts with BFSP2ProteinHetionet hetionet:interacts:631-8419Inferred only
BFSP1 interacts with DCUN1D1ProteinHetionet hetionet:interacts:54165-631Inferred only
BFSP1 interacts with VIMProteinHetionet hetionet:interacts:631-7431Inferred only

Other names

6 names

Resolves to: BFSP1

Also called: [Cleaved into: Filensin C-terminal fragment; Filensin N-terminal fragment]Beaded filament structural protein 1CP115Lens fiber cell beaded-filament structural protein CP 115Lens intermediate filament-like heavyLIFL-H

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