Entity Details

Primary name BFSP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ12934
EntryNameBFSP1_HUMAN
FullNameFilensin
TaxID9606
Evidenceevidence at protein level
Length665
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesBFSP1

GO terms

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GOName
GO:0005200 structural constituent of cytoskeleton
GO:0005212 structural constituent of eye lens
GO:0005737 cytoplasm
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0045109 intermediate filament organization
GO:0048469 cell maturation
GO:0070307 lens fiber cell development

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR039008 Intermediate filament, rod domainDomainDomain
IPR042358 FilensinFamilyFamily

Diseases

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Disease IDSourceNameDescription
611391 OMIMCataract 33, multiple types (CTRCT33)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. The disease is caused by variants affecting the gene represented in this entry.