Version 5.4
Homo sapiens Protein: BFSP1
Summary
InnateDB Protein IDBP-55957.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BFSP1
Protein Name beaded filament structural protein 1, filensin
Synonyms CP115; CP94; CTRCT33; LIFL-H;
Species Homo sapiens
Ensembl Protein ENSP00000367099
InnateDB Gene IDBG-55951 (BFSP1)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.
Disease Associations Cataract 33 (CTRCT33) [MIM:611391]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. {ECO:0000269PubMed:17225135}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Lens.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005200 structural constituent of cytoskeleton
Biological Process
GO:0008150 biological_process
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005886 plasma membrane
GO:0015629 actin cytoskeleton
Protein Structure and Domains
PDB ID
InterPro IPR009053 Prefoldin
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q12934
PhosphoSite PhosphoSite-Q12934
TrEMBL
UniProt Splice Variant
Entrez Gene 631
UniGene Hs.129702
RefSeq NP_001265536
HUGO HGNC:1040
OMIM 603307
CCDS CCDS54448
HPRD 04494
IMGT
EMBL AF039655 AH009849 AL031664 AL132765 BC041483 U12622 Y16717 Y16718 Y16719 Y16720 Y16721 Y16722 Y16723
GenPept AAA74423 AAB94939 AAG17186 AAH41483 CAA76348 CAA76349 CAB89430 CAH74032 CAI21689

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca