IFT57

intraflagellar transport 57

Tier: Gold Standard Ciliary Genes

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

  • Bardet-Biedl Syndrome
  • Orofaciodigital Syndrome

References: PMID:27060890, PMID:25989602, PMID:40273360

Subcellular localization

basal body, centrosome, cilia, transition zone

References: PMID:41005307, PMID:18492793, PMID:28104816

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 maintenance 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).