DZANK1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.73) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.26) PMID:41160700

Phenotypes

Mouse phenotype:

increased vertical activity

Ciliopathy associations

• Primary Ciliary Dyskinesia

References: PMID:42721274

Subcellular localization

basal body, transition zone

References: PMID:26485514

Functional category

• Motors (dynein/kinesin)
• Ciliary assembly/disassembly
• Protein processing & maturation
• Signaling (Hedgehog
• GPCRs
• ion channels)
• Transition zone

Function

Interaction partner of NINL. NINL-DZANK1 is involved in the proper assembly and folding of the cytoplasmic dynein 1 motor complex, which is essential for intracellular dynein-based transport (26485514). We identified that ECT2L and DZANK1 form the major linker complexes between adjacent TZ doublet microtubules. Biallelic loss-of-function variants in either gene cause primary ciliary dyskinesia. ECT2L and DZANK1 deficiency disrupted TZ architecture, caused microtubular abnormalities and abnormal bulbous ciliary tips, and impaired mucociliary clearance. These findings establish a direct genetic link between TZ defects and human motile ciliopathy, and illustrate how in situ structural biology can uncover mechanisms of human disease(PMID: 42721274).