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Aliases for BFSP1 Gene

Aliases for BFSP1 Gene

  • Beaded Filament Structural Protein 1, Filensin 2 3
  • CP115 3 4 6
  • Lens Fiber Cell Beaded-Filament Structural Protein CP 115 3 4
  • Lens Intermediate Filament-Like Heavy 3 4
  • CTRCT33 3 6
  • LIFL-H 3 4
  • Beaded Filament Structural Protein 1 4
  • Cytoskeletal Protein, 115 KD 3
  • Filensin 3
  • CP94 3

External Ids for BFSP1 Gene

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, Filensin) is a Protein Coding gene. Diseases associated with BFSP1 include cataract 33 and autosomal recessive childhood-onset cortical cataract. GO annotations related to this gene include structural constituent of cytoskeleton 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

Genomic Location for BFSP1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BFSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BFSP1 Gene

Regulatory Elements 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
    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 for BFSP1 Gene

Gene Families for BFSP1 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for BFSP1 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

BFSP1_HUMAN
Family:
  • Belongs to the intermediate filament family.:
    • Q12934
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:0005198 structural molecule activity --
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

Phenotypes for BFSP1 Gene

MGI mutant phenotypes for BFSP1:
inferred from 1 alleles
GenomeRNAi human phenotypes for BFSP1:
genes like me logo Genes that share phenotypes with BFSP1: view

Animal Models for BFSP1 Gene

MGI Knock Outs for BFSP1:

miRNA for BFSP1 Gene

miRTarBase miRNAs that target BFSP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BFSP1 Gene

Localization for BFSP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BFSP1 Gene

Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BFSP1 Gene COMPARTMENTS Subcellular localization image for BFSP1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 4
plasma membrane 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for BFSP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005882 intermediate filament IEA --
GO:0005886 plasma membrane IDA --
GO:0015629 actin cytoskeleton IDA --
genes like me logo Genes that share ontologies with BFSP1: view

Pathways 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 --
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 for BFSP1 Gene

Compounds for BFSP1 Gene

(1) Novoseek inferred chemical compound relationships for BFSP1 Gene

Compound -log(P) Hits PubMed IDs
cp-49 98.4 38
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

Integrated Proteomics: protein expression 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 expressions with BFSP1: view

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 36
  • 99.55 (n)
  • 99.7 (a)
BFSP1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BFSP1 36
  • 79 (n)
  • 70.91 (a)
BFSP1 37
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BFSP1 36
  • 82.48 (n)
  • 76.13 (a)
BFSP1 37
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bfsp1 36
  • 77.59 (n)
  • 69.23 (a)
Bfsp1 16
Bfsp1 37
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BFSP1 37
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BFSP1 37
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bfsp1 36
  • 77.97 (n)
  • 70.09 (a)
chicken
(Gallus gallus)
Aves BFSP1 36
  • 62.33 (n)
  • 51.7 (a)
BFSP1 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 52 (a)
OneToMany
-- 37
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bfsp1 36
  • 54.45 (n)
  • 47.11 (a)
zebrafish
(Danio rerio)
Actinopterygii CU929052.1 37
  • 45 (a)
OneToOne
LOC560018 36
  • 58.79 (n)
  • 47.93 (a)
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 MAF
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
rs201931 -- 17,542,275(-) TCTTC(A/C)TTTGT intron-variant
rs201932 -- 17,542,153(-) GATCT(A/C)CTAAG 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

Relevant External Links for BFSP1 Gene

HapMap Linkage Disequilibrium report
BFSP1
Human Gene Mutation Database (HGMD)
BFSP1
Locus Specific Mutation Databases (LSDB)
BFSP1

Disorders for BFSP1 Gene

(1) OMIM Diseases for BFSP1 Gene (603307)

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.

(1) University of Copenhagen DISEASES for BFSP1 Gene

(3) Novoseek inferred disease relationships for BFSP1 Gene

Disease -log(P) Hits PubMed IDs
nuclear cataract 70 1
cataract 60.5 3
shock 7.09 1

Relevant External Links for BFSP1

Genetic Association Database (GAD)
BFSP1
genes like me logo Genes that share disorders with BFSP1: view

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
  2. 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 4 23
  3. 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 4 23
  4. 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 4 23
  5. Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. (PMID: 17225135) Ramachandran R.D. … Hejtmancik J.F. (Hum. Genet. 2007) 3 4

Products for BFSP1 Gene

Sources for BFSP1 Gene

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