SEPTIN6

septin 6

Ensembl:
ENSG00000125354
UniProt:
Q14141
OMIM:
300683
Synonyms:
KIAA0128, MGC16619, MGC20339, SEP2, SEPT2

Cilia effects upon perturbation of SEPTIN6

Loss-of-function effect:
Longer cilia

Ciliogenesis screen results (1 screen)

  • Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.67) PMID:20393562

Phenotypes

Mouse phenotype:
increased circulating alkaline phosphatase level

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Reproduction & sperm

Function

Associates with acetylated δΌͺ- tubulin and controls ciliogenesis. Knockdown results in aberrant cilium formation. Required for left- right patterning of visceral organs in zebrafish by controlling nodal sig ling and through KV ciliogenesis. Sept6 is also required for ciliogenesis in the neural tube (24469395).

Model organism evidence

C. elegans (1 reference)

Primary cilia rely on compartmentalisation mechanisms that establish the organelle's protein and lipid composition.

PMIDs: 41279625