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 )