IFT80

Cilia effects upon perturbation of IFT80

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.26) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-5.43) PMID:29459680

Phenotypes

Mouse phenotype:

abnormal pelvic girdle bone morphology, abnormal ul morphology, preweaning lethality, incomplete penetrance, abnormal radius morphology, increased blood urea nitrogen level, increased red blood cell distribution width

Ciliopathy associations

• Short-Rib Thoracic Dysplasia

References: PMID:17468754, PMID:29458881, PMID:22791528

Subcellular localization

basal body, centrosome, cilia

References: PMID:22771375, PMID:29658880

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Ciliary membrane
• ECM & connective tissue

Function

Component of IFT complex B. Role in cilia formation and osteogenesis through regulating Hedgehog/Gli signal pathways. Silencing IFT80 led to either shortening or loss of cilia and the decrease of cilia marker protein Arl13b expression. Mutations cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly type III (SRPIII) (22771375). Required for IFT mediated recruitment and transport of ciliary cargo, as well as for initiation of the ciliary axoneme (29658880).