ARL3

Cilia effects upon perturbation of ARL3

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (5 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.0) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=99, lfc=-2.14) PMID:30270045
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-4.85) PMID:41160700

Phenotypes

Human ciliopathy phenotype:

Joubert syndrome; retinitis pigmentosa

Ciliopathy associations

• Autosomal Recessive Polycystic Kidney Disease
• Cone-Rod Dystrophy
• Joubert Syndrome
• Retinal Dystrophy/Degeneration

References: PMID:33748123, PMID:30269812, PMID:31743939, PMID:30932721, PMID:29721959, PMID:25550383, PMID:16565502, PMID:26964041

Subcellular localization

basal body, centrosome, nucleus, cilia, transition zone

References: PMID:41005307, PMID:12417528, PMID:20106869, PMID:23559067, PMID:22085962, PMID:30269812, PMID:38457249

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• Transition zone

Function

Interactor of RP2 (12417528) and PDEdelta (PMID:10518933). Involved in trafficking of vesicles from the Golgi to the cilium (PMID:20106869), especially, farnesylated cargo (PMID:22002721) in association with PDEdelta and RPGR (PMID:23559067), and myristoylated cargo in association with UNC119 and RP2 (PMID:22085962) ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition (30269812).