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

References: PMID:26702251, PMID:32879782, PMID:38091967, PMID:31136651, PMID:10587575, PMID:17605048

Subcellular localization

basal body, cilia, lysosomes

References: PMID:41410385, PMID:20389090

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 retinal disorders. Prom1 was not required for multicilia formation, but when inactivated resulted in longer cilia that beat at a lower frequency.