IFT56

Cilia effects upon perturbation of IFT56

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Shorter cilia

Overexpression effect:

No effect

Phenotypes

Mouse phenotype:

cleft palate, no spontaneous movement, increased grip strength, abnormal body wall morphology, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

biliary, renal, neurologic, and skeletal syndrome

Ciliopathy associations

• BRENS Syndrome
• Biliary Atresia

References: PMID:31595528, PMID:34177428, PMID:39514123

Subcellular localization

basal body, cilia, cilium, transition zone, axoneme

References: PMID:22718903, PMID:41410385, PMID:41005307, PMID:28264835, PMID:24596149, PMID:27927754

Functional category

• Ciliary assembly/disassembly
• Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
• Actin & cytoskeleton regulation
• Reproduction & sperm
• Cell migration & adhesion

Function

Also known as IFT56. Regulates normal levels and distribution of IFTB proteins in the cilia. Required for the accumulation of Gli2 and Gli3 at the distal tips of cilia, essential for normal microtubule architecture within the ciliary axoneme and trafficking of Shh signaling proteins. IFT56 associates with motility factors, function results in impaired motility (28264835). Required for normal development and differentiation in reti and pronephros (22718903). Role in transporting ciliary cargoes related to ciliary motility and for assembling cilia of full length (24596149). Forms a dimer with IFT46, responsible for the interaction of IFT-B with ARL13B (27927754).