DNAAF1

Cilia effects upon perturbation of DNAAF1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.57) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.24) PMID:41160700

Phenotypes

Mouse phenotype:

shortened pr interval, preweaning lethality, incomplete penetrance, abnormal coat/ hair morphology

Human ciliopathy phenotype:

primary ciliary dyskinesia

Ciliopathy associations

• Primary Ciliary Dyskinesia

Subcellular localization

basal body, cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Dynein heavy chain assembly factor. Interacts with the intraflagellar transport protein IFT88, mediating the delivery of dynein arm components directly to the intraflagellar transport complexes (29228333). Required for the stability of the ciliary architecture, cytoplasmic preassembly of dynein-arm complexes, including outer and inner dynein arms (27543293, 19944405). Important or cilia beat generation. Loss of LRRC50 affects the assembly of proximally and distally located ODA complexes. Candidate for human cystic kidney disease (19944400)