BFSP1 (beaded filament structural protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
631
Gene name Gene Name - the full gene name approved by the HGNC.
Beaded filament structural protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BFSP1
Synonyms (NCBI Gene) Gene synonyms aliases
CP115, CP94, CTRCT33, LIFL-H
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs34147780 A>-,AA Likely-pathogenic Coding sequence variant, frameshift variant
rs147718368 A>G Likely-pathogenic Missense variant, coding sequence variant
rs1085307126 C>A,T Pathogenic Coding sequence variant, missense variant
rs1085307127 T>C Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT051941 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005200 Function Structural constituent of cytoskeleton TAS 9628810
GO:0005212 Function Structural constituent of eye lens IBA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603307 1040 ENSG00000125864
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q12934
Protein name 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]
Protein function 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). {ECO:0000269|Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00038 Filament 41 → 199 Intermediate filament protein Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in the cortex and nucleus of the retina lens (at protein level). {ECO:0000269|PubMed:30790544, ECO:0000269|PubMed:7720401}.
Sequence 
MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARA
LEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRAL
DEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNL
LEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREVAALRSQLEEGREVLSHLQAQRV
ELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEETERVLEKSSYDCRQLAVAQQ
TLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLTRALQDITAAK
PRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVS
PLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYV
DPRFYVSSITAKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQ
PIDKEIEPDGAELEGPEEKREGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEV
LGTRSRSLPEKGPPKALAYKTVEVVESIEKISTESIQTYEETAVIVETMIGKTKSDKKKS
GEKSS
Sequence length 665
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 33 rs1246080692, rs1085307126, rs1085307127 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
congenital ocular coloboma Congenital ocular coloboma N/A N/A ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 33407546, 33540684
Cataract Associate 24319337, 26694549, 28450710, 31842807, 36161833
Neoplastic Syndromes Hereditary Associate 31842807