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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BFSP1 Gene

protein-coding   GIFtS: 53
GCID: GC20M017422

beaded filament structural protein 1, filensin

 Explore 9 diseases affiliated with
BFSP1 via our new
 Human Malady Compendium 
Biological research products
for BFSP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Beaded Filament Structural Protein 1, Filensin1 2     Lens Fiber Cell Beaded-Filament Structural Protein CP 1152 3
CP1151 2 3 5     Lens Intermediate Filament-Like Heavy2 3
LIFL-H1 2 3     Cytoskeletal Protein, 115 KD2
CP941 2     Beaded Filament Structural Protein 13
Filensin1     

External Ids:    HGNC: 10401   Entrez Gene: 6312   Ensembl: ENSG000001258647   OMIM: 6033075   UniProtKB: Q129343   

Export aliases for BFSP1 gene to outside databases

Previous GC identifers: GC20M017462 GC20M017469


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BFSP1:
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two
lens-specific intermediate filament-like proteins, CP49 (also known as phakinin) and the protein product of this gene,
filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally
unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene are the cause of
autosomal recessive cortical juvenile-onset cataract. Multiple transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jun 2009)

Gene Wiki entry for BFSP1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BFSP1 gene promoter:
         STAT1   STAT1beta   LCR-F1   STAT1alpha   RORalpha2   AREB6   RORalpha1   POU2F1   POU2F1a   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BFSP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BFSP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p12.1

BFSP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BFSP1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M017422:  view genomic region     (about GC identifiers)

Start:
17,474,550 bp from pter      End:
17,549,865 bp from pter
Size:
75,316 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BFSP1_HUMAN, Q12934 (See protein sequence)
Recommended Name: Filensin  
Size: 665 amino acids; 74544 Da
Subunit: Associates with BFSP2
Subcellular location: Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated
Sequence caution: Sequence=CAA76349.1; Type=Erroneous gene model prediction;
Secondary accessions: O43595 O76034 O95676 Q8IVZ6 Q9HBX4
Alternative splicing: 2 isoforms:  Q12934-1   Q12934-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BFSP1: NX_Q12934

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q12934

  • BFSP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001155177.1  NP_001186.1  

    ENSEMBL proteins: 
     ENSP00000367104   ENSP00000367099   ENSP00000442522   ENSP00000439870  

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    Uscn Proteins for BFSP1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005882intermediate filament IEA--
    GO:0005886plasma membrane IDA--
    GO:0015629actin cytoskeleton IDA--


    BFSP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BFSP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR016044 F

    Graphical View of Domain Structure for InterPro Entry Q12934

    ProtoNet protein and cluster: Q12934

    UniProtKB/Swiss-Prot: BFSP1_HUMAN, Q12934
    Similarity: Belongs to the intermediate filament family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for BFSP1:
    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

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BFSP1:
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFSP1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9628810
    GO:0005212structural constituent of eye lens IEA--
    GO:0005515protein binding ----


    BFSP1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for BFSP1:
     Decreased cilium length after   Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Bfsp1tm1Pgf for BFSP1
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Bfsp1):
     vision/eye 

    BFSP1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BFSP1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for BFSP1 (Q129343 ENSP000003671044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086703, ENSP000002242374I2D: score=2 STRING: ENSP00000224237
    BFSP2Q135153, ENSP000003049874I2D: score=1 STRING: ENSP00000304987
    MAP2K7O147333I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0048469cell maturation IEA--
    GO:0070307lens fiber cell development IEA--


    BFSP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BFSP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BFSP1
    1 Novoseek chemical compound relationship for BFSP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cp-49 98.4 44 7615661 (6), 15777782 (6), 7781747 (6), 8727967 (5) (see all 16)

    Search CenterWatch for drugs/clinical trials and news about BFSP1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BFSP1 gene (2 alternative transcripts): 
    NM_001161705.1  NM_001195.3  

    Unigene Cluster for BFSP1:

    Beaded filament structural protein 1, filensin
    Hs.129702  [show with all ESTs]
    Unigene Representative Sequence: NM_001195
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377873(uc002wpo.3) ENST00000377868(uc002wpp.3) ENST00000492424
    ENST00000473415 ENST00000536626(uc010zro.2) ENST00000544874(uc010zrn.2)


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate BFSP1:
    hsa-miR-330-3p
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF039655.1 AK304673.1 AK316247.1 BC041483.1 U12622.1 Y16717.2 

    5 DOTS entries:

    DT.100745013  DT.95365873  DT.120803546  DT.97816359  DT.97857400 

    24/112 AceView cDNA sequences (see all 112):

    BQ653816 BM667764 BM697020 BM664269 BF727338 BM705704 BM667800 BM664361 
    BM697100 BF726593 BF727321 BU735088 BF726716 BU734694 BM705861 BM706289 
    BM706107 BM664259 BU734952 BU735254 BM705595 BM697334 BU734579 BC041483 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BFSP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGGAAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BFSP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeLensEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

    See BFSP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BFSP1

    SOURCE GeneReport for Unigene cluster: Hs.129702

    UniProtKB/Swiss-Prot: BFSP1_HUMAN, Q12934
    Tissue specificity: Lens

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFSP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BFSP1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bfsp11 , 5 beaded filament structural protein 1, in lens-CP941, 5 77.06(n)1
    68.66(a)1
      2 (70.89 cM)5
    120751  NM_009751.21  NP_033881.21 
     1438265285 
    chicken
    (Gallus gallus)
    Aves BFSP11 beaded filament structural protein 1, filensin 62.01(n)
    51.31(a)
      396056  NM_205151.1  NP_990482.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    52(a)
    42(a)
    many → 1
    many → 1
    1(126934251-126958951)
    1(126966145-126969895)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5600181 filensin-like 58.72(n)
    49.17(a)
      560018  XM_683410.5  XP_688502.5 


    ENSEMBL Gene Tree for BFSP1 (if available)
    TreeFam Gene Tree for BFSP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1359 NCBI SNPs in BFSP1 are shown (see all 1359    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs767088821,2
    --17438837(+) TGGGCG/AACTCT 2 -- int12Minor allele frequency- A:0.02CSA WA 120
    rs60448491,2
    C,F,A,H,--17439195(+) AAATGC/TCACCC 2 -- int111Minor allele frequency- T:0.21NS EA NA WA CSA 662
    rs61319651,2
    F,H,--17439350(+) ATAAAA/GTTCTC 2 -- int14Minor allele frequency- G:0.00NS EA 420
    rs792580651,2
    --17439830(+) CAACCA/GTGTTG 2 -- int11Minor allele frequency- G:0.01WA 118
    rs798656021,2
    C,--17442496(+) TTTGCG/TGGGCG 4 Q P mis10--------
    rs346878191,2
    C,F--17442569(-) CACTGC/TGCAAG 4 R C mis12Minor allele frequency- T:0.00NA 4580
    rs72704611,2
    C,F,--17442996(+) tgactA/Gcaggc 2 -- int11Minor allele frequency- G:0.07WA 118
    rs124810461,2
    H--17443529(+) gcaagA/Gctctg 2 -- int10--------
    rs1123549491,2
    C,F,--17443686(+) GCTACC/GTTTAT 2 -- int11Minor allele frequency- G:0.03NA 120
    rs732539701,2
    C,F,--17443875(+) AGGGAG/AGAAAA 2 -- int14Minor allele frequency- A:0.30WA CSA 124

    HapMap Linkage Disequilibrium report for BFSP1 (17474550 - 17549865 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for BFSP1
         2 CNVs: 50626 73473
    Human Gene Mutation Database (HGMD): BFSP1

    Locus Specific Mutation Databases (LSDB): BFSP1

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    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BFSP1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BFSP1 for disorders           About GeneDecksing

    OMIM gene information: 603307   
    OMIM disorders: 611391  
    UniProtKB/Swiss-Prot: BFSP1_HUMAN, Q12934
  • Defects in BFSP1 are the cause of cataract cortical juvenile-onset (CCJO) [MIM:611391]. A juvenile-onset
  • cataract with opacities restricted to the cortex of the lens, not involving the nucleus

    9 diseases for BFSP1:    About MalaCards
    cataract, cortical, juvenile-onset    cataract    posterior polar cataract    nodular basal cell carcinoma
    iron overload    basal cell carcinoma    senile cataract    corneal dystrophy
    carcinoma

    1 disease from the University of Copenhagen DISEASES database for BFSP1:
    Posterior polar cataract

    3 Novoseek disease relationships for BFSP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nuclear cataract 70 2 17490642 (1)
    cataract 60.5 8 17490642 (2), 10513204 (1)
    shock 7.09 1 16080680 (1)


    Export disorders for BFSP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BFSP1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with BFSP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the human beaded-filament structural protein 1 gene (BFSP1) and assignment to chromosome 20p11.23-p12.1. (PubMed id 9787085)1, 2, 3, 9 Rendtorff N.D....Tommerup N. (1998)
    2. 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. (PubMed id 9628810)1, 2, 9 Hess J.F.... FitzGerald P.G. (1998)
    3. Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. (PubMed id 7720401)1, 2, 9 Hess J.F.... FitzGerald P.G. (1995)
    4. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. (PubMed id 10909854)1, 2, 9 Yamada K.... Niikawa N. (2000)
    5. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. (PubMed id 17225135)1, 2 Ramachandran R.D.... Hejtmancik J.F. (2007)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Membrane-binding properties of filensin, a cytoskeletal protein of the lens fiber cells. (PubMed id 1478967)1, 9 Brunkener M. and Georgatos S.D. (1992)
    8. In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin. (PubMed id 7781747)1, 9 Carter J.M....Quinlan R.A. (1995)
    9. Vimentin and CP49/filensin form distinct networks in the lens which are independently modulated during lens fibre cell differentiation. (PubMed id 7615661)1, 9 Sandilands A....FitzGerald P.G. (1995)
    10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 631 HGNC: 1040 AceView: BFSP1 Ensembl:ENSG00000125864 euGenes: HUgn631
    ECgene: BFSP1 H-InvDB: BFSP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for BFSP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for BFSP1 gene:
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