SCLT1

Cilia effects upon perturbation of SCLT1

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Loss of cilia

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.96) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-4.09) PMID:29459680

Phenotypes

Mouse phenotype:

abnormal eye morphology, preweaning lethality, incomplete penetrance, increased circulating triglyceride level

Mouse ciliopathy phenotype:

polydactyly

Ciliopathy associations

• Bardet-Biedl Syndrome
• Non-syndromic Retinal Degeneration
• Retinal Dystrophy/Degeneration
• Senior-Løken Syndrome

Subcellular localization

basal body, centrosome, cilia, transition zone

Functional category

• Ciliary assembly/disassembly
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Recruited to centrioles via CEP83. Subsequently, it recruits FBF1 and CEP164. Depletion of SCLT1 in RPE1 cells disruptes CEP164 localisation and blockes cilia formation (23348840). Variants have been identified in patients with a severe ciliopathy phenotype. Candidate gene of autosomal recessive Oro鈥怓acio鈥怐igital (OFD) syndrome (24285566). Recruits LRRC45 to the distal appendages of mother centriole (30131441).

Model organism evidence