CLUAP1
clusterin associated protein 1
- Ensembl:
- ENSG00000103351
- UniProt:
- Q96AJ1
- OMIM:
- 616787
- Synonyms:
- CFAP22, FAP22, FLJ13297, IFT38, KIAA0643
Cilia effects upon perturbation of CLUAP1
- 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
- Mouse ciliopathy phenotype:
- increased circulating bilirubin level
Ciliopathy associations
- Leber Congenital Amaurosis
Subcellular localization
basal body, centrosome, cilia, nucleus
Functional category
- Ciliary assembly/disassembly
- Actin & cytoskeleton regulation
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Cilia protein required for cilia formation. Key regulator of hedgehog sig ling 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 mainte nce, intracellular transport processes and cytoskeletal rearrangement by its interactions with TRIP6, which is suggested to be an actin and migration- modulating factor (29615496 )
Model organism evidence
Cluap1/IFT38 is a ciliary protein that belongs to the IFT-B complex and is required for ciliogenesis.
Overall Architecture of the Intraflagellar Transport (IFT)-B Complex Containing Cluap1/IFT38 as an Essential Component of the IFT-B Peripheral Subcomplex.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.
Cluap1 is essential for ciliogenesis and photoreceptor maintenance in the vertebrate eye.
PMIDs: 24970261