IFT122

intraflagellar transport 122

Ensembl:
ENSG00000163913
UniProt:
Q9HBG6
OMIM:
606045
Synonyms:
CFAP80, FAP80, SPG, WDR10, WDR10P

Cilia effects upon perturbation of IFT122

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=-6.53) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.39) PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal behavior, long tibia, decreased locomotor activity, preweaning lethality, complete penetrance, increased mean corpuscular volume
Mouse ciliopathy phenotype:
increased circulating aspartate transamise level

Ciliopathy associations

  • Cranioectodermal Dysplasia (Sensenbrenner)
  • Skeletal Ciliopathy
  • Weyers Acrofacial Dysostosis

Subcellular localization

basal body, cilia

Functional category

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

Function

Negative regulator of the Shh pathway, controlling the ciliary localization of Shh pathway activators and repressors. Loss of IFT122 causes accumulation of Gli2 and Gli3 at cilia tips. Function in retrograde intraflagellar transport (ITF) that facilitates complex A stability (21209331). Required for transport of opsin, and the distal elongation of outer segments (27681595). IFT122 connects the core and peripheral subcomplexes of the IFT-A (29220510).

Model organism evidence

Mus musculus (2 references)

Loss of NSUN7 altered the abundance of proteins essential for dynein arm assembly (PIH1D3, CCDC103, CCDC40), intraflagellar transport (IFT122), and fibrous sheath organization (AKAP3, AKAP4, ROPN1L).

IFT122 Regulates Proliferation of mEPMCs Through the Shh Signaling Pathway by Primary Cilia.

PMIDs: 41516134, 40598823

Xenopus (2 references)

Here, we applied DIFFRAC to investigate the consequences of genetic loss of Ift122, a subunit of the intraflagellar transport-A (IFT-A) protein complex that plays a vital role in the formation and function of cilia and flagella, on the proteome of Tetrahymena thermophila.

Here, we applied DIFFRAC to investigate the consequences of genetic loss of Ift122, a subunit of the intraflagellar transport-A (IFT-A) protein complex that plays a vital role in the formation and function of cilia and flagella, on the proteome of Tetrahymena thermophila .

PMIDs: 38170584, 36945534