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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BFSP1
beaded filament structural protein 1
Chromosome 20 Β· 20p12.1
NCBI Gene: 631Ensembl: ENSG00000125864.15HGNC: HGNC:1040UniProt: B7Z999
30PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membraneprotein bindingcytosollens fiber cell developmentcataract 33early-onset nuclear cataractplacenta praeviainfectious meningitis
✦AI Summary

BFSP1 (beaded filament structural protein 1) is a lens-specific intermediate filament protein essential for ocular function and increasingly recognized in cancer biology. In the eye, BFSP1 forms beaded filament complexes with BFSP2 and CRYAA to establish correct lens intermediate filament architecture, critical for maintaining lens transparency and optical properties 1. BFSP1 also regulates calcium-dependent water permeability of lens aqueous channels 2. Mutations in BFSP1 cause congenital and age-related cataracts through reduced protein expression and increased cellular apoptosis 34; multiple pathogenic variants including frameshift and missense mutations have been identified in cataract families 5. Beyond ocular function, BFSP1 has recently emerged as a cancer-associated protein. M6A methylation-mediated stabilization of BFSP1 promotes hepatocellular carcinoma progression by enhancing aerobic glycolysis through direct interaction with tropomodulin 4 6. BFSP1 overexpression correlates with poor prognosis, reduced survival, and increased tumor migration in liver cancer, with functional knockdown significantly inhibiting metastatic potential 7. Additionally, BFSP1 was identified as a differentially expressed gene linked to oxidative stress in kidney stone pathology 8, suggesting broader pathophysiological roles beyond the lens.

Sources cited
1
BFSP1 required for correct lens intermediate filament formation as part of complex with BFSP2 and CRYAA
PMID: 28935373
2
BFSP1 involved in altering calcium regulation of MIP water permeability
PMID: 30790544
3
D348N BFSP1 mutation decreases protein expression, weakens cell proliferation, increases apoptosis, and associates with congenital cataract
PMID: 37667037
4
BFSP1 mutations cause cataract in humans and are critical for lens optical properties and transparency
PMID: 19587458
5
Multiple BFSP1 variants including novel frameshifts identified as likely pathogenic in pediatric cataract families
PMID: 36161833
6
M6A-modified BFSP1 promotes hepatocellular carcinoma growth and metastasis through TMOD4 interaction and aerobic glycolysis
PMID: 40097750
7
BFSP1 upregulation in liver cancer correlates with poor prognosis and functional knockdown reduces cell migration
PMID: 41470198
8
BFSP1 identified as differentially expressed gene related to oxidative stress in kidney stone pathology
PMID: 39732836
Disease Associationsβ“˜21
cataract 33Open Targets
0.71Strong
early-onset nuclear cataractOpen Targets
0.40Weak
placenta praeviaOpen Targets
0.32Weak
infectious meningitisOpen Targets
0.30Weak
early-onset non-syndromic cataractOpen Targets
0.29Weak
Developmental cataractOpen Targets
0.26Weak
liver diseaseOpen Targets
0.21Weak
genetic disorderOpen Targets
0.19Weak
colobomaOpen Targets
0.14Weak
Total congenital cataractOpen Targets
0.11Weak
Partial congenital cataractOpen Targets
0.11Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset zonular cataractOpen Targets
0.10Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.10Suggestive
pulverulent cataractOpen Targets
0.10Suggestive
isolated ectopia lentisOpen Targets
0.10Suggestive
cataract 35Open Targets
0.09Suggestive
cataract 13 with adult I phenotypeOpen Targets
0.09Suggestive
cataract 38Open Targets
0.09Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
Cataract 33, multiple typesUniProt
Pathogenic Variants7
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)Pathogenic
Cataract 33
β˜…β˜†β˜†β˜†2022β†’ Residue 259
NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)Likely pathogenic
Cataract 33
β˜…β˜†β˜†β˜†2020β†’ Residue 72
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)Pathogenic
Cataract 33
β˜…β˜†β˜†β˜†2019β†’ Residue 300
NM_001195.5(BFSP1):c.1124del (p.Glu375fs)Likely pathogenic
Developmental cataract
β˜†β˜†β˜†β˜†2021β†’ Residue 375
NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)Pathogenic
Cataract 33
β˜†β˜†β˜†β˜†2017β†’ Residue 348
NM_001195.5(BFSP1):c.1042+3A>GPathogenic
Cataract 33
β˜†β˜†β˜†β˜†2017
NM_001195.5(BFSP1):c.736-1384_957-66delPathogenic
Cataract 33
β˜†β˜†β˜†β˜†2007
View on ClinVar β†—
Related Genes
CRYGSProtein interaction92%CRYAAProtein interaction89%MIPProtein interaction89%CRYBA2Protein interaction82%GJA8Protein interaction79%CRYBB3Protein interaction79%
Tissue Expression6 tissues
Brain
100%
Ovary
92%
Lung
56%
Heart
47%
Bone Marrow
45%
Liver
21%
Gene Interaction Network
Click a node to explore
BFSP1CRYGSCRYAAMIPCRYBA2GJA8CRYBB3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q12934
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.05 [0.82–1.37]
RankingsWhere BFSP1 stands among ~20K protein-coding genes
  • #11,862of 20,598
    Most Researched30
  • #3,249of 5,498
    Most Pathogenic Variants7
  • #14,295of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedBFSP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
M6A-modified BFSP1 induces aerobic glycolysis to promote liver cancer growth and metastasis through upregulating tropomodulin 4.
PMID: 40097750
Mol Biomed Β· 2025
1.00
2
D348N Mutation of BFSP1 Gene in Congenital Cataract: it Does Matter.
PMID: 37667037
Cell Biochem Biophys Β· 2023
0.90
3
Functions of the intermediate filament cytoskeleton in the eye lens.
PMID: 19587458
J Clin Invest Β· 2009
0.80
4
Pathogenic genetic variants identified in Australian families with paediatric cataract.
PMID: 36161833
BMJ Open Ophthalmol Β· 2022
0.70
5
Multi-Omics and Functional Analysis of BFSP1 as a Prognostic and Therapeutic Target in Liver Hepatocellular Carcinoma.
PMID: 41470198
Medicina (Kaunas) Β· 2025
0.60