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Aliases for BFSP1 Gene

Aliases for BFSP1 Gene

  • Beaded Filament Structural Protein 1 2 3 4 5
  • Lens Fiber Cell Beaded-Filament Structural Protein CP 115 3 4
  • Beaded Filament Structural Protein 1, Filensin 2 3
  • Lens Intermediate Filament-Like Heavy 3 4
  • LIFL-H 3 4
  • CP115 3 4
  • Cytoskeletal Protein, 115 KD 3
  • Filensin 3
  • CTRCT33 3
  • CP94 3

External Ids for BFSP1 Gene

Previous GeneCards Identifiers for BFSP1 Gene

  • GC20M017462
  • GC20M017469

Summaries for BFSP1 Gene

Entrez Gene Summary for BFSP1 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 structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for BFSP1 Gene

BFSP1 (Beaded Filament Structural Protein 1) is a Protein Coding gene. Diseases associated with BFSP1 include Cataract 33, Multiple Types and Early-Onset Nuclear Cataract. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of eye lens.

Gene Wiki entry for BFSP1 Gene

Additional gene information for BFSP1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BFSP1 Gene

Genomics for BFSP1 Gene

GeneHancer (GH) Regulatory Elements for BFSP1 Gene

Promoters and enhancers for BFSP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J017566 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 -1.0 -1024 6.5 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 DSTN BFSP1 RRBP1 ZNF133 POLR3F BANF2 GC20M017577 RN7SKP69
GH20J017556 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.4 +10.4 10370 5.4 PKNOX1 FOXA2 NEUROD1 SIN3A ZNF48 ETS1 SLC30A9 ATF7 FOS REST BFSP1 RRBP1 DSTN GCNT1P1 ENSG00000277373 GC20P017516
GH20J017530 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.3 +38.0 38036 1.7 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 ZNF48 YY1 GLIS2 ELK1 BFSP1 RRBP1 GC20P017516 ENSG00000277373
GH20J017536 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.5 +32.1 32147 0.9 PKNOX1 ARID4B SIN3A SLC30A9 ARID2 ZNF143 RUNX3 DEK NFKBIZ MXD4 DSTN BFSP1 RRBP1 POLR3F BANF2 GC20P017516 ENSG00000277373
GH20J017593 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.3 -25.4 -25373 2.1 HDGF NFIB NEUROD1 SIN3A ZKSCAN1 ZNF697 CTBP1 GATA3 RCOR1 FOS DSTN POLR3F BFSP1 ZNF133 RRBP1 LOC100286962 GC20M017577 RN7SKP69
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BFSP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BFSP1 gene promoter:
  • AREB6
  • LCR-F1
  • RORalpha1
  • RORalpha2
  • POU2F1
  • POU2F1a
  • Pax-4a
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for BFSP1 Gene

Genomic Locations for BFSP1 Gene
chr20:17,493,905-17,569,220
(GRCh38/hg38)
Size:
75,316 bases
Orientation:
Minus strand
chr20:17,474,550-17,549,865
(GRCh37/hg19)
Size:
75,316 bases
Orientation:
Minus strand

Genomic View for BFSP1 Gene

Genes around BFSP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BFSP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BFSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BFSP1 Gene

Proteins for BFSP1 Gene

  • Protein details for BFSP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12934-BFSP1_HUMAN
    Recommended name:
    Filensin
    Protein Accession:
    Q12934
    Secondary Accessions:
    • F5H0G1
    • O43595
    • O76034
    • O95676
    • Q8IVZ6
    • Q9HBX4

    Protein attributes for BFSP1 Gene

    Size:
    665 amino acids
    Molecular mass:
    74544 Da
    Quaternary structure:
    • Associates with BFSP2 to form long fibrils (By similarity). Identified in complexes that contain VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin (By similarity).
    SequenceCaution:
    • Sequence=CAA76349.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BFSP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BFSP1 Gene

Post-translational modifications for BFSP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BFSP1 Gene

No data available for DME Specific Peptides for BFSP1 Gene

Domains & Families for BFSP1 Gene

Gene Families for BFSP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BFSP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BFSP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12934

UniProtKB/Swiss-Prot:

BFSP1_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with BFSP1: view

Function for BFSP1 Gene

Molecular function for BFSP1 Gene

GENATLAS Biochemistry:
filensin,beaded filament structural protein 1,74.5kDa,ocular lens fiber cell-specific cytoskeletal protein,expressed during the formation of the eyes,intermediate filament superfamily,novel class

Gene Ontology (GO) - Molecular Function for BFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 9628810
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with BFSP1: view
genes like me logo Genes that share phenotypes with BFSP1: view

Human Phenotype Ontology for BFSP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BFSP1 Gene

MGI Knock Outs for BFSP1:

Animal Model Products

miRNA for BFSP1 Gene

miRTarBase miRNAs that target BFSP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for BFSP1 Gene

Localization for BFSP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFSP1 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Cytoplasm, cell cortex. Note=Detected adjacent to the cell membrane. {ECO:0000250 UniProtKB:Q06002}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BFSP1 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 3
mitochondrion 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament TAS,IEA --
GO:0005886 plasma membrane IEA --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with BFSP1: view

Pathways & Interactions for BFSP1 Gene

SuperPathways for BFSP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008150 biological_process ND --
GO:0048469 cell maturation IEA --
GO:0070307 lens fiber cell development IEA --
genes like me logo Genes that share ontologies with BFSP1: view

No data available for Pathways by source and SIGNOR curated interactions for BFSP1 Gene

Drugs & Compounds for BFSP1 Gene

(1) Additional Compounds for BFSP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BFSP1: view

Transcripts for BFSP1 Gene

Unigene Clusters for BFSP1 Gene

Beaded filament structural protein 1, filensin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BFSP1 Gene

No ASD Table

Relevant External Links for BFSP1 Gene

GeneLoc Exon Structure for
BFSP1
ECgene alternative splicing isoforms for
BFSP1

Expression for BFSP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BFSP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BFSP1 Gene

This gene is overexpressed in Vitreous humor (66.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BFSP1 Gene



Protein tissue co-expression partners for BFSP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BFSP1 Gene:

BFSP1

SOURCE GeneReport for Unigene cluster for BFSP1 Gene:

Hs.129702

mRNA Expression by UniProt/SwissProt for BFSP1 Gene:

Q12934-BFSP1_HUMAN
Tissue specificity: Lens.

Evidence on tissue expression from TISSUES for BFSP1 Gene

  • Eye(4.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BFSP1 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with BFSP1: view

No data available for mRNA differential expression in normal tissues for BFSP1 Gene

Orthologs for BFSP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BFSP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BFSP1 34 33
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BFSP1 34 33
  • 82.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BFSP1 34 33
  • 79 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bfsp1 33
  • 77.97 (n)
mouse
(Mus musculus)
Mammalia Bfsp1 16 34 33
  • 77.59 (n)
oppossum
(Monodelphis domestica)
Mammalia BFSP1 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BFSP1 34
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves BFSP1 34 33
  • 62.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bfsp1 33
  • 54.45 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC560018 33
  • 58.79 (n)
CU929052.1 34
  • 45 (a)
OneToOne
Species where no ortholog for BFSP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BFSP1 Gene

ENSEMBL:
Gene Tree for BFSP1 (if available)
TreeFam:
Gene Tree for BFSP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BFSP1: view image

Paralogs for BFSP1 Gene

No data available for Paralogs for BFSP1 Gene

Variants for BFSP1 Gene

Sequence variations from dbSNP and Humsavar for BFSP1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1085307126 pathogenic, Cataract 33, multiple types 17,496,938(-) C/A/T coding_sequence_variant, missense_variant
rs1085307127 pathogenic, Cataract 33, multiple types 17,496,935(-) T/C intron_variant
rs139124891 benign, Cataract 33, multiple types 17,494,947(-) C/A coding_sequence_variant, missense_variant
rs143850362 benign, Cataract 33, multiple types 17,531,193(-) C/G coding_sequence_variant, intron_variant, missense_variant
rs145703098 likely-benign, Cataract 33, multiple types 17,494,297(-) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for BFSP1 Gene

Variant ID Type Subtype PubMed ID
esv2760670 CNV gain 21179565
esv29435 CNV gain 19812545
esv3567918 CNV loss 25503493
esv3645426 CNV gain 21293372
nsv1143977 CNV deletion 24896259
nsv179788 CNV deletion 16902084
nsv510781 CNV deletion 20534489
nsv520496 CNV gain 19592680
nsv964378 CNV duplication 23825009

Variation tolerance for BFSP1 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.49; 64.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BFSP1 Gene

Human Gene Mutation Database (HGMD)
BFSP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BFSP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BFSP1 Gene

Disorders for BFSP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BFSP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BFSP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BFSP1_HUMAN
  • Cataract 33, multiple types (CTRCT33) [MIM:611391]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. {ECO:0000269 PubMed:17225135, ECO:0000269 PubMed:24379646, ECO:0000269 PubMed:28450710}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BFSP1

genes like me logo Genes that share disorders with BFSP1: view

No data available for Genatlas for BFSP1 Gene

Publications for BFSP1 Gene

  1. Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1. (PMID: 9787085) Rendtorff ND … Tommerup N (Genomics 1998) 2 3 4 22 58
  2. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. (PMID: 10909854) Yamada K … Niikawa N (European journal of human genetics : EJHG 2000) 3 4 22 58
  3. Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein. (PMID: 9628810) Hess JF … FitzGerald PG (Experimental eye research 1998) 3 4 22 58
  4. Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. (PMID: 7720401) Hess JF … FitzGerald PG (Current eye research 1995) 3 4 22 58
  5. A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family. (PMID: 24379646) Wang H … Zhang J (Molecular vision 2013) 3 4 58

Products for BFSP1 Gene

Sources for BFSP1 Gene

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