TRRAP

Cilia effects upon perturbation of TRRAP

Cilia number / % ciliated:

Decreased cilia number

Ciliogenesis screen results (6 screens)

• Kim2016: Not Reported
• 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
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=417, lfc=-3.66) PMID:30270045
• Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.84) PMID:20393562

Phenotypes

Mouse phenotype:

abnormal behavior, increased mean corpuscular hemoglobin, abnormal cornea morphology, increased mean corpuscular volume, increased circulating magnesium level, preweaning lethality, complete penetrance

Human ciliopathy phenotype:

developmental delay with or without dysmorphic facies and autism; hearing loss, autosomal dominant 75

Subcellular localization

basal body, lysosomes, nucleus

Functional category

• Ciliary assembly/disassembly
• Transcription regulation

Function

Central regulator of multiciliated cells formation. Acts downstream of Notch 2 and upstream Multicilin in regulation of ciliated cell formation, binds to the promoters and regulates the expression of genes involved in multiciliated cell differentiation and function, including several genes associated with human ciliopathies like PCD. Required for FOXJ1 expression. Knockdown of TRRAP decreased the number of ciliated cells, and knockout mice are not viable (29588376).

Model organism evidence