IFT38

clusterin associated protein 1

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000103351
UniProt:
Q96AJ1
OMIM:
616787
Synonyms:
CFAP22, FAP22, FLJ13297, CLUAP1, KIAA0643

Cilia effects upon perturbation of IFT38

Cilia number / % ciliated:
Decreased cilia number

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-7.15) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.14) PMID:29459680

Phenotypes

Mouse phenotype:
abnormal response to tactile stimuli

Ciliopathy associations

  • Leber Congenital Amaurosis

References: PMID:26820066

Subcellular localization

basal body, centrosome, cilia, nucleus

References: PMID:41005307, PMID:23351563, PMID:29615496, PMID:31554018, PMID:23742838

Functional category

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

Function

Cilia protein required for cilia formation. Key regulator of hedgehog signaling and as an intraflagellar transport B complex protein involved in anterograde and retrograde cilia transport. Deletion of Cluap1 causes a total loss of cilia within the developing embryo in mice (23351563, 31554018, 23742838). Role in cilia assembly and maintenance, intracellular transport processes and cytoskeletal rearrangement by its interactions with TRIP6, which is suggested to be an actin and migration- modulating factor (29615496 )