SMC3

Cilia effects upon perturbation of SMC3

Cilia number / % ciliated:

No effect

Loss-of-function effect:

Decrease

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.51) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.92) PMID:29459680

Phenotypes

Mouse phenotype:

abnormal coat/hair pigmentation, developmental and structural abnormality, preweaning lethality, complete penetrance, decreased body weight, process of degenerative change, lipid deposition, abnormal snout morphology

Ciliopathy associations

• Cornelia de Lange Syndrome
• Holoprosencephaly

Subcellular localization

cilia, cytosol, nucleus

Functional category

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

Function

SMC1 and SMC3 to primary cilia in the reti as well as in cultured mammalian cells demonstrates that these proteins are also associated with ciliary (16043481). SMC3 knockdown in zebrafish neuromasts reduces kinociliary length without affecting hair cell number. Cohesin subunit with ciliary localization in retina and cultured mammalian cells (PMID:41263044).

Model organism evidence