EFCAB10

Cilia effects upon perturbation of EFCAB10

Loss-of-function effect:

Impaired ciliary motility

Ciliogenesis screen results (1 screen)

• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

cilia

Function

Here, we identify EF-hand calcium-binding domain protein 10 (EFCAB10) and adenylate kinase (AK8) as radial spoke proteins and describe their roles in mouse motile cilia. Using Efcab10-/- and Ak8-/- mice, we show that loss of either protein can affect ciliary motility and lead to PCD-related phenotypes in mice. Interestingly, ciliary AK8 is completely absent in Efcab10-/- cilia, but the loss of AK8 has no effect on ciliary EFCAB10. Further biochemical analyses reveal that EFCAB10 interacts with AK8 and RSPH3B, which fastens AK8 to the radial spoke. Overall, our findings demonstrate the essential role of EFCAB10 as a radial spoke protein in maintaining the integrity of the radial spoke and provide valuable insights into the molecular basis of related ciliopathies. (41055978), EF-hand calcium-binding domain protein 10 (EFCAB10) and adenylate kinase (AK8) identified as radial spoke proteins and describe their roles in mouse motile cilia. Using Efcab10-/- and Ak8-/- mice, we show that loss of either protein can affect ciliary motility and lead to PCD-related phenotypes in mice. Interestingly, ciliary AK8 is completely absent in Efcab10-/- cilia, but the loss of AK8 has no effect on ciliary EFCAB10. Further biochemical analyses reveal that EFCAB10 interacts with AK8 and RSPH3B, which fastens AK8 to the radial spoke. Overall,the essential role of EFCAB10 as a radial spoke protein demonstrated in maintaining the integrity of the radial spoke and provide valuable insights into the molecular basis of related ciliopathies. (41055978)

Model organism evidence