Entity Details

Primary name CCD40_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ4G0X9
EntryNameCCD40_HUMAN
FullNameCoiled-coil domain-containing protein 40
TaxID9606
Evidenceevidence at protein level
Length1142
SequenceStatuscomplete
DateCreated2007-10-02
DateModified2021-06-02

Ontological Relatives

GenesCCDC40

GO terms

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GOName
GO:0001947 heart looping
GO:0003341 cilium movement
GO:0003351 epithelial cilium movement involved in extracellular fluid movement
GO:0003356 regulation of cilium beat frequency
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005929 cilium
GO:0005930 axoneme
GO:0030317 flagellated sperm motility
GO:0030324 lung development
GO:0035082 axoneme assembly
GO:0035469 determination of pancreatic left/right asymmetry
GO:0036159 inner dynein arm assembly
GO:0044458 motile cilium assembly
GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
GO:0070286 axonemal dynein complex assembly
GO:0071907 determination of digestive tract left/right asymmetry
GO:0071910 determination of liver left/right asymmetry

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR037386 Coiled-coil domain-containing protein 40FamilyFamily

Diseases

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Disease IDSourceNameDescription
613808 OMIMCiliary dyskinesia, primary, 15 (CILD15)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. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype.