Entity Details

Primary name CF298_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP57076
EntryNameCF298_HUMAN
FullNameCilia- and flagella-associated protein 298
TaxID9606
Evidenceevidence at protein level
Length290
SequenceStatuscomplete
DateCreated2000-12-01
DateModified2021-06-02

Ontological Relatives

GenesCFAP298

GO terms

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GOName
GO:0003352 regulation of cilium movement
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005929 cilium
GO:0060271 cilium assembly

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR021298 Cilia- and flagella-associated protein 298FamilyFamily

Diseases

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Disease IDSourceNameDescription
615500 OMIMCiliary dyskinesia, primary, 26 (CILD26)A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. Cilia in nasal epithelia show the absence of both outer and inner dynein-arm components and complete paralysis.