AK8

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.64) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Subcellular localization

basal body, cilia, flagella

References: PMID:33139725, PMID:24740601, PMID:41410385, PMID:42010243, PMID:21746835, PMID:41055978, PMID:39743588

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm

Function

Hydrocephalus due to dysfunctiol motile cilia in KO mouse (21746835). 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) Identified by cryo-EM as a component of radial spokes 1 and 2 in sperm flagella and other motile cilia (Leung et al., 2025, Nature, PMID 39743588).