IFT57

intraflagellar transport 57

Ensembl:
ENSG00000114446
UniProt:
Q9NWB7
OMIM:
606621
Synonyms:
ESRRBL1, FLJ10147, HIPPI, MHS4R2

Cilia effects upon perturbation of IFT57

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

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.40) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-3.97) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=184, lfc=-2.50) PMID:30270045
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.68) PMID:41160700

Ciliopathy associations

  • Orofaciodigital Syndrome
  • Orofaciodigital Syndrome
  • Bardet-Biedl Syndrome

Subcellular localization

basal body, centrosome, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Cell migration & adhesion
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transition zone

Function

Component of IFT complex B. Required for effective transport, outer segment mainte nce and ciliary elongation. Mediates the interaction between IFT20 and the IFT particle (18492793). Trafficking of motility-related proteins and prevents IFT particle complex from degradation (28104816).

Model organism evidence

Mus musculus (2 references)

Primary cilia are present on endothelial cells of the hyaloid vasculature but are not required for the development of the blood-retinal barrier.

Thus, we tested the direct binding of SANS to IFT molecules, namely IFT20, IFT57, and IFT74 in 1:1 yeast-two-hybrid assay.

PMIDs: 32735563, 31637240

Danio rerio (1 reference)

Primary cilia are present on endothelial cells of the hyaloid vasculature but are not required for the development of the blood-retinal barrier.

PMIDs: 32735563