PROM1

Cilia effects upon perturbation of PROM1

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unkown

Ciliogenesis screen results (4 screens)

• Kim2016: No effect
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:

cone-rod dystrophy 12; retinitis pigmentosa 41; retinitis pigmentosa; cone-rod dystrophy

Ciliopathy associations

• Cone-Rod Dystrophy
• Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, lysosomes

Functional category

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

Function

Controls recruitment of ciliary membrane components, histone deacetylase, and transcription factors in stem cells. Mutations cause various human reti l disorders. Prom1 was not required for multicilia formation, but when inactivated resulted in longer cilia that beat at a lower frequency.

Model organism evidence