InnateDB Protein
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IDBP-55955.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BFSP1
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Protein Name
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beaded filament structural protein 1, filensin
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Synonyms
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CP115; CP94; CTRCT33; LIFL-H;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000367104
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InnateDB Gene
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IDBG-55951 (BFSP1)
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Protein Structure
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Function |
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Subcellular Localization |
Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.
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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.
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Tissue Specificity |
Lens.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001664
Intermediate filament protein
IPR009053
Prefoldin
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PFAM |
PF00038
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q12934
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PhosphoSite |
PhosphoSite-Q12934
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
631
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UniGene |
Hs.129702
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RefSeq |
NP_001186
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HUGO |
HGNC:1040
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OMIM |
603307
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CCDS |
CCDS13126
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HPRD |
04494
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IMGT |
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EMBL |
AF039655
AH009849
AL031664
AL132765
BC041483
U12622
Y16717
Y16718
Y16719
Y16720
Y16721
Y16722
Y16723
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GenPept |
AAA74423
AAB94939
AAG17186
AAH41483
CAA76348
CAA76349
CAB89430
CAH74032
CAI21689
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