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Gene: BFSP1 (beaded filament structural protein 1) Homo sapiens
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Symbol: BFSP1
Name: beaded filament structural protein 1
Description: Predicted to be a structural constituent of eye lens. Predicted to be involved in lens fiber cell development. Predicted to localize to cytoplasm and intermediate filament. Implicated in cataract 33.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beaded filament structural protein 1, filensin; CP115; CP94; CTRCT33; cytoskeletal protein, 115 KD; filensin; lens fiber cell beaded-filament structural protein CP 115; lens intermediate filament-like heavy; LIFL-H
Orthologs:
Mus musculus (house mouse) : Bfsp1 (beaded filament structural protein 1, in lens-CP94)  MGI  Alliance
Rattus norvegicus (Norway rat) : Bfsp1 (beaded filament structural protein 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Bfsp1 (beaded filament structural protein 1)
Pan paniscus (bonobo/pygmy chimpanzee) : BFSP1 (beaded filament structural protein 1)
Canis lupus familiaris (dog) : BFSP1 (beaded filament structural protein 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Bfsp1 (beaded filament structural protein 1)
Sus scrofa (pig) : BFSP1 (beaded filament structural protein 1)
Chlorocebus sabaeus (African green monkey) : BFSP1 (beaded filament structural protein 1)
Heterocephalus glaber (naked mole-rat) : Bfsp1 (beaded filament structural protein 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl2017,493,905 - 17,569,220 (-)EnsemblGRCh38hg38GRCh38
GRCh382017,493,905 - 17,569,220 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372017,474,550 - 17,549,865 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362017,422,550 - 17,459,974 (-)NCBINCBI36hg18NCBI36
Build 342017,422,550 - 17,459,974NCBI
Celera2017,549,027 - 17,614,092 (-)NCBI
Cytogenetic Map20p12.1NCBI
HuRef2017,437,512 - 17,512,555 (-)NCBIHuRef
CHM1_12017,474,583 - 17,549,870 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on BFSP1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 737302
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.