IFT27

Cilia effects upon perturbation of IFT27

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.77) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.02) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=947, lfc=-2.23) PMID:30270045

Phenotypes

Human ciliopathy phenotype:

Bardet-Biedl syndrome

Ciliopathy associations

• Bardet-Biedl Syndrome
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy
• Visceral Heterotaxy / Situs Inversus

Subcellular localization

basal body, centrosome, cilia

Functional category

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

Function

Also known as RABL4, component of IFT complex B. Forms a complex with IFT25 and associates with IFT-B inside cilia, interacts with and stabilises the nucleotide-free form of ARL6 to promote the exit of BBSome out of cilia. Mutated in Bardet-Biedl syndrome (25443296). Required for BBSome trafficking essential for hedgehog sig ling. IFT25/IFT27 complex plays a role in transporting Gli2 to the ciliary tip (25446516). Role in the cargo loading of the retrograde transport machinery (24843028).

Model organism evidence