CPAP

Cilia effects upon perturbation of CPAP

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Longer cilia

Phenotypes

Mouse phenotype:

decreased body weight, abnormal tail movements, process of degenerative change, abnormal exterl female genitalia morphology, decreased lean body mass, abnormal behavior, abnormal tibia morphology, decreased locomotor activity, abnormal tail morphology, abnormal humerus morphology, abnormal joint morphology, abnormal vertebrae morphology, increased total body fat amount, increased circulating potassium level, abnormal ul morphology, decreased body length, abnormal head morphology, vertebral fusion

Mouse ciliopathy phenotype:

abnormal cranium morphology, increased circulating bilirubin level

Subcellular localization

basal body

Functional category

• Ciliary assembly/disassembly

Function

Acts as a scaffold for the cilium disassembly complex, which includes Nde1, Aurora A, and OFD1, which is recruited to the ciliary base for timely cilium disassembly, plays a role in NPC proliferation, cilia formation, controlling the cilium axoneme and BB structure, regulates centriole duplication and elongation (30626697). Promotes the extension of the centriolar cylinder, presumably via its ability to recruit tubulin to the scent structure, studies propose that functions as a scaffold for tubulin addition (19481458).

Model organism evidence