Bos taurus Gene: BFSP1 | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-638711.3 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | BFSP1 | ||||||||||
Gene Name | filensin | ||||||||||
Synonyms | |||||||||||
Species | Bos taurus | ||||||||||
Ensembl Gene | ENSBTAG00000021867 | ||||||||||
Encoded Proteins |
filensin
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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 13:38182322-38220659 | ||||||||||
Strand | Reverse strand | ||||||||||
Band | |||||||||||
Transcripts |
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Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 3 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
Mus musculus
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Gene ID
Gene Order
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Cross-References | |||||||||||
SwissProt | |||||||||||
TrEMBL | |||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | |||||||||||
UniGene | Bt.170 | ||||||||||
RefSeq | NM_174247 XM_005214322 XM_005214324 | ||||||||||
HUGO | |||||||||||
OMIM | |||||||||||
CCDS | |||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
EMBL | |||||||||||
GenPept | |||||||||||
RNA Seq Atlas | |||||||||||