EHD1

Cilia effects upon perturbation of EHD1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

increased circulating cholesterol level, process of degenerative change, increased circulating chloride level, developmental dysplasia, abnormal eyelid aperture, increased circulating hdl cholesterol level, increased circulating ldl cholesterol level

Mouse ciliopathy phenotype:

increased circulating alanine transamise level

Subcellular localization

cilia, endosome, transition zone

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Cardiac & muscle development
• Transition zone
• Cilia length regulation

Function

Requiered for ciliogenesis by regulating activation and repression of the Sonic hedgehog (SHH) sig lling pathway. Trafficking of SHH sig ling components to the primary cilia, its activations leads to entry of SMO into cilia (26884322). Role in ciliary vesicles assembly. Formation of membrane tubules that attach the intracellular developing cilium to the cell surface and create an extracellular membrane channel (EMC). Recruitment of PACSIN proteins to cellular membranes (30683896). Responsible for removal of the capping protein CP110 from the m- centriole to facilitate ciliary growth. Function in early ciliogenesis by causing mother centriole reorganisation. Regulation of membrane tubulation required for ciliary vesicle formation from smaller distal appendage vesicles. EHD1 and EHD3 bind to the Rab8 effector MICAL-L1 and affect membrane tubulo-vesicle formation and scission (25686250). The loss of EHD1 expression is associated with a dramatic decrease in cilia length.

Model organism evidence