IFT88

intraflagellar transport 88

Ensembl:
ENSG00000032742
UniProt:
Q13099
OMIM:
600595
Synonyms:
D13S1056E, HTG737, MGC26259, TG737, TTC10

Cilia effects upon perturbation of IFT88

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
No effect

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.16) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.99) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=650, lfc=-3.11) PMID:30270045

Phenotypes

Mouse phenotype:
embryonic growth retardation, preweaning lethality, complete penetrance, abnormal embryo size
Mouse ciliopathy phenotype:
abnormal embryo turning

Ciliopathy associations

  • Nephronophthisis
  • Short-Rib Thoracic Dysplasia

Subcellular localization

basal body, centrosome, cilia

Functional category

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

Function

Component of IFT complex B. Required for ciliary and flagellar assembly and may play a role in the attachment of the IFT particle to its cargo or to the anterograde IFT motor FLA10-kinesin-II (11062270).

Model organism evidence

Mus musculus (6 references)

Primary cilia in osteoblasts and osteocytes are required for skeletal development and mechano-adaptation.

Both ciliation frequency and ciliary length were reduced in Scleraxis-CreERT2; Intraflagellar transport 88floxed/floxed (Scx-CreERT2;Ift88fl/fl) tenocytes.

PMIDs: 41926508, 41898356, 41846983, 41588821, 41512914