EPAS1

Cilia effects upon perturbation of EPAS1

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.21) 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:

renal cell carcinoma; clear cell renal carcinoma

Subcellular localization

basal body, cytosol, nucleus

Functional category

• Ciliary assembly/disassembly
• Protein processing & maturation
• Signaling (Hedgehog, GPCRs, ion channels)
• Muscle contraction & physiology
• Transcription regulation
• Cilia length regulation

Function

Interestingly, alteration in HIF expression by hypoxia or pharmacological mimics has also been shown to influence primary cilia length [21241248 , 22084569] and activate the hedgehog pathway [35]. Prolyl hydroxylase inhibition results in ciliary elongation and a more pronounced recruitment of HIF-2α to the ciliary base and sequestration to the ciliary axonome. Elongation drives ciliary sequestration leading to negative regulation of HIF-2α expression and activity. HIFs have relationship with the primary cilium in inflammation(18774959).