STAG1

Cilia effects upon perturbation of STAG1

Cilia number / % ciliated:

Incrased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.14) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

abnormal lymph node morphology, edema, enlarged spleen, enlarged semil vesicle, abnormal placenta vasculature, abnormal placenta morphology, small spleen, embryonic growth retardation, abnormal spleen morphology, preweaning lethality, complete penetrance, enlarged lymph nodes, increased circulating triglyceride level

Mouse ciliopathy phenotype:

enlarged kidney, abnormal uriry bladder morphology, microphthalmia, abnormal kidney morphology, small kidney

Human ciliopathy phenotype:

intellectual disability, autosomal dominant 47; Intellectual disability

Subcellular localization

cilia, cytosol, nucleus

Functional category

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

Function

STAG1 has localized in primary cilia.