Entity Details

Primary name DAAF5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ86Y56
EntryNameDAAF5_HUMAN
FullNameDynein axonemal assembly factor 5
TaxID9606
Evidenceevidence at protein level
Length855
SequenceStatuscomplete
DateCreated2005-11-08
DateModified2021-06-02

Ontological Relatives

GenesDNAAF5

GO terms

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GOName
GO:0003341 cilium movement
GO:0005737 cytoplasm
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0045505 dynein intermediate chain binding
GO:0120293 dynein axonemal particle

Subcellular Location

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Subcellular Location
Cytoplasm
Dynein axonemal particle

Domains

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DomainNameCategoryType
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR021133 HEAT, type 2RepeatRepeat
IPR034085 TOG domainDomainDomain

Diseases

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Disease IDSourceNameDescription
614874 OMIMCiliary dyskinesia, primary, 18 (CILD18)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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.