CFAP53

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differential localization and recruitment of axonemal dynein components (By similarity). Required for centriolar satellite integrity and non-motile cilium assembly (PubMed:26538025). Required for motile cilium formation (PubMed:26538025). Through its role in the beating of primary cilia, involved in the establishment of organ laterality during embryogenesis (PubMed:26531781). Required for sperm flagellum biogenesis and is essential for male fertility (By similarity).

Heterotaxy, visceral, 6, autosomal

HTX6

A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the CFAP53 family.

Expressed in skin fibroblasts (at protein level) (PubMed:22577226, PubMed:28621423). Expressed in nasal respiratory epithelial cells (at protein level) (PubMed:25504577). Expressed in airway epithelial cells (PubMed:36191189).

• Cytoplasm
• Cytoskeleton
• Cilium axoneme
• Cytoplasm
• Cytoskeleton
• Flagellum axoneme
• Cytoplasm
• Cytoskeleton
• Microtubule organizing center
• Centrosome
• Centriole
• Cytoplasm
• Cytoskeleton
• Microtubule organizing center
• Centrosome
• Centriolar satellite
• Cytoplasm
• Cytoskeleton
• Spindle pole
• Cytoplasm
• Cytoskeleton
• In tracheal cell cilia, localizes prominently to both centriolar satellites and axonemes (By similarity). Tightly associated with microtubules in tracheal cilia (By similarity). In embryonic node cells, localizes to the base of the node cilia at the centriolar satellites and, to a lesser extent, to the cilium axoneme (By similarity). Localizes to centriolar satellites through G1, S phase, G2 and mitosis (PubMed:26538025). Enriched on the spindle poles in mitosis (PubMed:26538025). Relocalizes from the centriolar satellite to the ciliary transition zone upon ciliogenesis (PubMed:26538025). In skin fibroblast cells, locates predominantly to the centriole with much lower levels associated with the actin cytoskeleton (PubMed:28621423). Localizes to the sperm flagellum and manchette (By similarity).

CCDC11, CFAP53, Cilia- and flagella-associated protein 53, Coiled-coil domain-containing protein 11

• entrezGene:220136
• omim:614759
• swissprot:Q96M91

Proteins

61835Da