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Bfsp1 Gene Detail
Summary
  • Symbol
    Bfsp1
  • Name
    beaded filament structural protein 1, in lens-CP94
  • Synonyms
    filensin
  • Feature Type
    protein coding gene
  • IDs
    MGI:101770
    NCBI Gene: 12075
  • Gene Overview
    MyGene.info: BFSP1
Location & Maps
more
  • Sequence Map
    Chr2:143826528-143863173 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      36646 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 70.89 cM, cytoband G
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BFSP1, beaded filament structural protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BFSP1, beaded filament structural protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CP115, CP94, CTRCT33, LIFL-H
  • Links
    NCBI Gene ID: 631
    neXtProt AC: NX_Q12934

  • Chr Location
    20p12.1; chr20:17493905-17569220 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 922
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: BFSP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human BFSP1 associations

Human Disease Mouse Models
       Cataract 33; CTRCT33   OMIM: 611391
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (other)
    1
  • Gene trapped
    8
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Bfsp1
  • Incidental Mutations
Mutations in this gene produce lens abnormalities progressing to cataracts.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003120 VEGA Gene Model | MGI Sequence Detail 36646 C57BL/6J ±  kb
transcript OTTMUST00000014789 VEGA | MGI Sequence Detail 2160 Not Applicable  
polypeptide OTTMUSP00000006874 VEGA | MGI Sequence Detail 669 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    444 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004733 filensin
  • InterPro Domains
    IPR001664 Intermediate filament protein
Molecular
Reagents
less
  • All nucleic 30
    Genomic 11
    cDNA 19

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-18577
References
more
  • Summaries
    All 44
    Developmental Gene Expression 14
    Gene Ontology 8
    Phenotypes 10
  • Earliest
    J:19680 Masaki S, et al., The gene Bfsp1 for the lens fiber cell beaded-filament structural protein CP94 maps to mouse chromosome 2. Genomics. 1994 Jul 15;22(2):449-50
  • Latest
    J:209511 Basu S, et al., alpha6 integrin transactivates insulin-like growth factor receptor-1 (IGF-1R) to regulate caspase-3-mediated lens epithelial cell differentiation initiation. J Biol Chem. 2014 Feb 14;289(7):3842-55

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory