DRC1

Cilia effects upon perturbation of DRC1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (1 screens)

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

Phenotypes

Human ciliopathy phenotype:

primary ciliary dyskinesia 21; primary ciliary dyskinesia

Ciliopathy associations

• Male Infertility
• Primary Ciliary Dyskinesia

References: PMID:23354437, PMID:39152285, PMID:34169321

Subcellular localization

cilia, transition zone

References: PMID:41005307, PMID:23354437, PMID:29167384, PMID:31960620

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Cell migration & adhesion
• Cilia length regulation

Function

Structural component of the nexin-dynein regulatory complex (N-DRC), critical for regulation of the dynein motors. Its integrity is essential for the regulation of ciliary beat. Mutations are a cause for an autosomal recessive variant of primary ciliary dyskinesia (23354437). DRC1 and DRC2 form a subcomplex in the cytoplasm prior to assembly into the axoneme. DRC1 and DRC2 coassemble to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet (29167384). Loss of function of DRC1 may weaken the N‐DRC and its attachment to the peripheral , leading to axonemal microtubule disorganization (31960620). Shorter cilia length and reduced fluid-driving capability were consistent with the results observed in Drc1−/− mice.