CLRN1

Cilia effects upon perturbation of CLRN1

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.99) PMID:41160700

Phenotypes

Mouse phenotype:

abnormal startle reflex, abnormal spleen morphology, abnormal skin morphology, abnormal lung morphology, abnormal vibrissa morphology

Mouse ciliopathy phenotype:

abnormal auditory brainstem response, abnormal liver morphology, abnormal kidney morphology

Human ciliopathy phenotype:

retinitis pigmentosa

Ciliopathy associations

• Usher Syndrome

Subcellular localization

transition zone

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Knockdown of clarin-1 resulted in inhibition of FM1-43 incorporation, shortening of the kinocilia, and mislocalization of ribeye b clusters and in vivo interaction between clarin-1 and Pcdh15a is observed(PMID: 25365995).

Model organism evidence