NR1H4

Cilia effects upon perturbation of NR1H4

Loss-of-function effect:

Promoted ciliogenesis

Overexpression effect:

Reduced

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-5.28) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased locomotor activity, increased circulating triglyceride level, increased lactate dehydrogese level, decreased mean corpuscular volume, increased circulating cholesterol level, increased startle reflex, increased circulating alkaline phosphatase level, decreased prepulse inhibition, abnormal tail movements, decreased circulating serum albumin level, increased circulating hdl cholesterol level

Mouse ciliopathy phenotype:

increased circulating alanine transamise level, increased circulating aspartate transamise level

Human ciliopathy phenotype:

primary biliary cirrhosis; biliary liver cirrhosis

Subcellular localization

cilia, nucleus

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• ECM & connective tissue
• Transcription regulation

Function

Regulates autophagy by controlling transcription of genes involved in autophagic pathways. It negatively regulares ciliogenesis by inhibiting autophagy (29771182)..