IFT140

Cilia effects upon perturbation of IFT140

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.42) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.88) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

short-rib thoracic dysplasia 9 with or without polydactyly; retinitis pigmentosa; cystic kidney disease; kidney disease; Autosomal dominant polycystic kidney disease; Renal cyst; Kidney Cyst; Complex Cyst of Kidney

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Leber Congenital Amaurosis
• Mainzer-Saldino Syndrome
• Opitz Trigonocephaly C Syndrome
• Retinal Dystrophy/Degeneration
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy
• Autosomal Dominant Polycystic Kidney Disease

Subcellular localization

basal body, centrosome, cilia

Functional category

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

Function

Component of IFT-A complex, mutated in skeletal ciliopathies with kidney disease (23418020). Associates with IFT122 and IFT144 to a stable IFT-A core subcomplex, indispensable for dynein proteins retrograde transport into the cytoplasm and flagellar assembly. Required for development and mainte nce of outer segments, ciliary/flagellar assembly and sig l transduction (29236364, 24619649).