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Bfsp1
Gene Detail
Symbol

Name
ID
Bfsp1
beaded filament structural protein 1, in lens-CP94
MGI:101770
Synonyms
filensin
Feature Type
protein coding gene
Genetic Map
Chromosome 2
70.89 cM, cytoband G
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:143826528-143863173 bp, - strand
From VEGA annotation of GRCm38

  36646 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:922  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Bfsp1

Human
homologs
Human Homolog BFSP1, beaded filament structural protein 1, filensin
NCBI Gene ID 631
neXtProt AC  NX_Q12934
Human Synonyms  CP115, CP94, CTRCT33, LIFL-H
Human Chr (Location)  20p12.1; chr20:17493905-17569220 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human BFSP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(8) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations in this gene produce lens abnormalities progressing to cataracts.
 
Interactions
Bfsp1 interacts with 36 markers (Mir19a, Mir19b-1, Mir19b-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cell maturation, lens fiber cell development
Component actin cytoskeleton, cytoplasm, ...
Function protein binding, structural constituent of eye lens, ...
External Resources: FuncBase
Expression
Literature Summary: (14 records)
Data Summary: Results (1)    Tissues (1)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 1
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(30) Genomic(11) cDNA(19)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000003120 (Evidence)
Ensembl Gene ModelENSMUSG00000027420 (Evidence)
Entrez Gene12075 (Evidence)
UniGene275937
DFCITC1582872, TC1596877
DoTSDT.55156124, DT.91375835
NIA Mouse Gene IndexU023432
Consensus CDS ProjectCCDS16811.1, CCDS71154.1
International Mouse Knockout Project StatusBfsp1
Sequences
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 sequences
All sequences(31) RefSeq(4) UniProt(1)
Polymorphisms
RFLP(1) : SNPs within 2kb(441 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001664 Intermediate filament protein
Protein Ontology PR:000004733 filensin
References
(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
All references(48)
Other
accession IDs
MGD-MRK-18577

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory