Entity Details

Primary name KTU_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NVR5
EntryNameKTU_HUMAN
FullNameProtein kintoun
TaxID9606
Evidenceevidence at protein level
Length837
SequenceStatuscomplete
DateCreated2003-09-26
DateModified2021-06-02

Ontological Relatives

GenesDNAAF2

GO terms

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GOName
GO:0001701 in utero embryonic development
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032526 response to retinoic acid
GO:0036158 outer dynein arm assembly
GO:0036159 inner dynein arm assembly
GO:0060285 cilium-dependent cell motility
GO:0061966 establishment of left/right asymmetry
GO:0070286 axonemal dynein complex assembly
GO:0120293 dynein axonemal particle

Subcellular Location

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Subcellular Location
Cytoplasm
Dynein axonemal particle

Domains

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DomainNameCategoryType
IPR012981 PIH1, N-terminalDomainDomain
IPR034727 KintounFamilyFamily
IPR041442 PIH1D1/2/3, CS-like domainDomainDomain

Diseases

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Disease IDSourceNameDescription
612518 OMIMCiliary dyskinesia, primary, 10 (CILD10)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.