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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
  • 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 and Early-Onset Nuclear Cataract. GO annotations related to this gene include structural molecule activity and structural constituent of eye lens.

Gene Wiki entry for BFSP1 Gene

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

Genomics for BFSP1 Gene

Regulatory Elements for BFSP1 Gene

Enhancers for BFSP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BFSP1 on UCSC Golden Path with GeneCards custom track

Promoters for BFSP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BFSP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BFSP1 Gene

Chromosome:
20
Start:
17,493,905 bp from pter
End:
17,569,220 bp from pter
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

Proteomics data for BFSP1 Gene at MOPED

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

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
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BFSP1 Gene COMPARTMENTS Subcellular localization image for BFSP1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
plasma membrane 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for BFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005882 intermediate filament 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:0008150 biological_process ND --
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:

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 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



SOURCE GeneReport for Unigene cluster for BFSP1 Gene Hs.129702

mRNA Expression by UniProt/SwissProt for BFSP1 Gene

Q12934-BFSP1_HUMAN
Tissue specificity: Lens.
genes like me logo Genes that share expression patterns with BFSP1: view

Protein tissue co-expression partners for BFSP1 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia BFSP1 35
  • 79 (n)
  • 70.91 (a)
BFSP1 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BFSP1 35
  • 82.48 (n)
  • 76.13 (a)
BFSP1 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bfsp1 35
  • 77.59 (n)
  • 69.23 (a)
Bfsp1 16
Bfsp1 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BFSP1 35
  • 99.55 (n)
  • 99.7 (a)
BFSP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bfsp1 35
  • 77.97 (n)
  • 70.09 (a)
oppossum
(Monodelphis domestica)
Mammalia BFSP1 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BFSP1 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves BFSP1 35
  • 62.33 (n)
  • 51.7 (a)
BFSP1 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
OneToMany
-- 36
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bfsp1 35
  • 54.45 (n)
  • 47.11 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC560018 35
  • 58.79 (n)
  • 47.93 (a)
CU929052.1 36
  • 45 (a)
OneToOne
Species with no ortholog for BFSP1:
  • 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)

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 Sequence Context AA Info Type
rs6080719 - 17,496,947(+) CCCAC(C/T)GGATC reference, missense
rs16999317 - 17,494,104(+) TTCTT(A/G/T)TCTGA reference, missense
rs201928 -- 17,544,258(-) TTCGC(A/G)TCCCT intron-variant
rs201929 -- 17,543,413(-) TATGC(C/T)CTAAT intron-variant
rs201930 -- 17,543,344(-) TTCCT(A/G)ATGTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv4555n71 CNV Gain 21882294
esv29435 CNV Gain 19812545
nsv510781 CNV Loss 20534489
nsv179788 CNV Loss 16902084
nsv520496 CNV Gain 19592680

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)

Relevant External Links for BFSP1 Gene

Human Gene Mutation Database (HGMD)
BFSP1

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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 33
  • cataract 33, cortical
early-onset nuclear cataract
nodular basal cell carcinoma
  • basal cell carcinoma, nodular
cataract
posterior polar cataract
  • cataract, posterior polar
- 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 (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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BFSP1

Genetic Association Database (GAD)
BFSP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 N.D. … Tommerup N. (Genomics 1998) 2 3 4 23 67
  2. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. (PMID: 10909854) Yamada K. … Niikawa N. (Eur. J. Hum. Genet. 2000) 3 23
  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 J.F. … FitzGerald P.G. (Exp. Eye Res. 1998) 3 23
  4. Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation. (PMID: 7615661) Sandilands A. … FitzGerald P.G. (J. Cell. Sci. 1995) 3 23
  5. Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. (PMID: 7720401) Hess J.F. … FitzGerald P.G. (Curr. Eye Res. 1995) 3 23

Products for BFSP1 Gene

Sources for BFSP1 Gene

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