SYNE1

Cilia effects upon perturbation of SYNE1

Ciliogenesis screen results (5 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
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-3.27) PMID:20393562

Phenotypes

Mouse phenotype:

preweaning lethality, incomplete penetrance

Human ciliopathy phenotype:

autosomal recessive ataxia, Beauce type

Subcellular localization

cilia, nucleus, p-body

Functional category

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

Function

Also known as Nesprin1. Integral components of ciliary rootlets of multiciliated cells. Interacts with rootletin (28625779). Essential for the relocalisation of centrosome proteins and components of microtubule motor complexes to the nuclear envelope, and interacts with PCM-1 (27802164). Mutations are associated with cerebellar and non-cerebellar pathologies of Not Reported molecular pathogenesis (29630990). Mediates centrosome migration and determi tionof centrosome/basal body positioning during early cell polarization, an essential step for ciliogenesis (19596800).