Bfsp1 beaded filament structural protein 1, in lens-CP94 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bfsp1provided by MGI
Official Full Name: beaded filament structural protein 1, in lens-CP94provided by MGI
Primary source: MGI:MGI:101770
See related: Ensembl:ENSMUSG00000027420 AllianceGenome:MGI:101770
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CP95
Summary: A structural constituent of eye lens. Involved in intermediate filament organization. Acts upstream of or within cell maturation and lens fiber cell development. Located in cytoplasm; intermediate filament; and plasma membrane. Is expressed in several structures, including eye and male reproductive gland or organ. Human ortholog(s) of this gene implicated in cataract 33. Orthologous to human BFSP1 (beaded filament structural protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in colon adult (RPKM 1.7), large intestine adult (RPKM 1.2) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G1; 2 70.89 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (143668448..143757320, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (143826528..143915219, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CP49 and filensin intermediate filaments are essential for formation of cold cataract.
Title: CP49 and filensin intermediate filaments are essential for formation of cold cataract.
CP49 and filensin have been considered robust markers for mouse lens fiber cell differentiation. The data reported here, however, document both proteins in the mouse lens epithelium, but only after 5 weeks of age, when lens epithelial growth and mitotic activity have slowed.
Title: Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium.
AQP0 modulates GJs in the presence of BF proteins to maintain lens transparency and homeostasis.
Title: Aquaporin 0 Modulates Lens Gap Junctions in the Presence of Lens-Specific Beaded Filament Proteins.
disruption of the Hsf4 gene leads to cataracts via at least three pathways: down-regulation of gamma-crystallin, particularly gamma S-crystallin; decreased lens beaded filament expression; and loss of post-translational modification of alpha A-crystallin
Title: Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of eye lens	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of eye lens	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens fiber cell development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within lens fiber cell development	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: filensin

Names: beaded filament structural protein in lens-CP94; lens fiber cell beaded-filament structural protein CP 95

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.