IFT74

Cilia effects upon perturbation of IFT74

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]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.5) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=828, lfc=-2.08) PMID:30270045

Phenotypes

Mouse phenotype:

increased startle reflex, limb grasping

Human ciliopathy phenotype:

Joubert syndrome 40; Bardet-Biedl syndrome 22

Ciliopathy associations

• Bardet-Biedl Syndrome
• Joubert Syndrome
• Male Infertility
• Mucociliary Clearance Disorder
• Skeletal Ciliopathy

References: PMID:27486776, PMID:33531668, PMID:34539760, PMID:37315079, PMID:37555648, PMID:36865301, PMID:37427975, PMID:33875766, PMID:33531668, PMID:33689014, PMID:36865301

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:41005307, PMID:23990561, PMID:31004481, PMID:37315079

Functional category

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

Function

Component of IFT complex B. Interacts with IFT81 to stabilise IFT-B complex. This interaction is required for binding and transport of tubulin to regulate cilium length, required for ciliogenesis (23990561). Essential for normal mouse spermatogenesis and sperm flagella formation by transporting cargo proteins and modulating axoneme and microtubule assembly (31004481).