IFT56

intraflagellar transport 56

Ensembl:
ENSG00000105948
UniProt:
A0AVF1
OMIM:
617453
Synonyms:
DYF-13, DYF13, FLJ12571, TTC26

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
Mouse ciliopathy phenotype:
polydactyly
Human ciliopathy phenotype:
biliary, renal, neurologic, and skeletal syndrome

Subcellular localization

basal body, cilia

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 sig ling 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).

Model organism evidence

Mus musculus (2 references)

The severity of cilia-related syndromes (ciliopathies) ranges from viable with fertility defects to embryonic lethal, often with different mutations in the same gene resulting in highly variable phenotypes.

Ift56hop mice have normal cilia distribution but display defective cilia structure, including abnormal positioning and number of ciliary microtubule doublets.

PMIDs: 41352382, 28264835