DNAAF1

The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants.

Dynein Axonemal Assembly Factor 1

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.

Axonemal dynein complex assembly Source: UniProtKB
Cilium assembly Source: UniProtKB
Cilium movement Source: BHF-UCL
Determination of digestive tract left/right asymmetry Source: BHF-UCL
Determination of liver left/right asymmetry Source: BHF-UCL
Determination of pancreatic left/right asymmetry Source: BHF-UCL
Epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
Heart looping Source: BHF-UCL
Inner dynein arm assembly Source: BHF-UCL
Left/right pattern formation Source: BHF-UCL
Lung development Source: BHF-UCL
Motile cilium assembly Source: BHF-UCL
Outer dynein arm assembly Source: BHF-UCL
Regulation of cilium beat frequency Source: BHF-UCL

Cytoplasm; Spindle pole; Cilium. In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.

Ciliary dyskinesia, primary, 13 (CILD13):
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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.