Mus musculus Gene: Bfsp1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-208336.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Bfsp1 | ||||||||||||||||||||||
Gene Name | beaded filament structural protein 1, in lens-CP94 | ||||||||||||||||||||||
Synonyms | CP95 | ||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Gene | ENSMUSG00000027420 | ||||||||||||||||||||||
Encoded Proteins |
beaded filament structural protein 1, in lens-CP94
beaded filament structural protein 1, in lens-CP94
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000125864:
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] 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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 2:143826528-143863173 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | G1 | ||||||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Homo sapiens
Bos taurus
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Gene ID
Gene Order
Not yet available
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Mm.275937 | ||||||||||||||||||||||
RefSeq | NM_001291061 NM_009751 XM_006498613 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS16811 CCDS71154 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||
MGI Symbol | |||||||||||||||||||||||
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GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||