MitoProteome Database

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MT000083

UniProt Annotations

Entry Information

Gene Name	beaded filament structural protein 1, filensin
Protein Entry	BFSP1_HUMAN
UniProt ID	Q12934
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q12934-1; Sequence=Displayed; Name=2; IsoId=Q12934-2; Sequence=VSP_024921, VSP_024922; Note=No experimental confirmation available.; Name=3; IsoId=Q12934-3; Sequence=VSP_055064; Note=No experimental confirmation available.;
Disease	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:0000269\|PubMed:17225135}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence Caution	Sequence=CAA76349.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the intermediate filament family. {ECO:0000305}.
Subcellular Location	Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated.
Subunit	Associates with BFSP2.
Tissue Specificity	Lens.