IFT43

Cilia effects upon perturbation of IFT43

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]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.29) PMID:29459680

Phenotypes

Mouse phenotype:

abnormal hindbrain development, preweaning lethality, complete penetrance, increased circulating total protein level, abnormal forebrain development, increased circulating cholesterol level, increased circulating serum albumin level, abnormal neural tube morphology, abnormal heart looping, abnormal pharyngeal arch morphology, embryonic lethality prior to tooth bud stage

Mouse ciliopathy phenotype:

abnormal neural tube closure, abnormal heart morphology, increased circulating creatinine level, abnormal embryo turning, increased circulating bilirubin level, abnormal midbrain development

Human ciliopathy phenotype:

short rib dysplasia; retinitis pigmentosa; short-rib thoracic dysplasia 18 with polydactyly

Ciliopathy associations

• Cranioectodermal Dysplasia (Sensenbrenner)
• Retinal Dystrophy/Degeneration
• Short-Rib Thoracic Dysplasia
• Skeletal Ciliopathy

Subcellular localization

basal body, cilia

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation

Function

Component of IFT complex A. Mutations leads to abnormal ciliogenesis (28973684). Interacts with IFT121 to regulate stability of IFT-A, and is essential for ciliogenesis. Involved in transporting ciliary precursors from the cytoplasmic pool to the peri-basal body region (28207750)

Model organism evidence