ENTR1

Cilia effects upon perturbation of ENTR1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

Unknown, Not Reported

Phenotypes

Mouse phenotype:

abnormal skin morphology, increased circulating calcium level, enlarged ovary, increased circulating hdl cholesterol level, small semil vesicle, increased circulating cholesterol level, enlarged uriry bladder, increased circulating total protein level, abnormal semil vesicle morphology, abnormal ovary morphology

Mouse ciliopathy phenotype:

small testis, abnormal liver morphology, abnormal uriry bladder morphology, abnormal heart morphology, abnormal testis morphology, enlarged heart

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)

Function

Interacts with the intraflagellar transport protein 88 (IFT88), involved in ciliogenesis and intraciliary transport. Required for ciliary localization of Polycystin-2, mediating the transport of Polycystin-2 from the ciliary base into the cilium (27767179)., Reduction in ciliary length upon SDCCAG3 knockdown is observed. To rescue this phenotype,IMCD3 cells are transfected . SDCCAG3 localizes to the cilia basal body(27767179).