SEPTIN4

septin 4

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000108387
UniProt:
O43236
OMIM:
603696
Synonyms:
ARTS, C17ORF47, CE5B3, FLJ40121, H5, HCDCREL-2, HUCEP-7, MART, PNUTL2, SEPT4, SEPTIN-4

Cilia effects upon perturbation of SEPTIN4

Loss-of-function effect:
Shorter cilia

Subcellular localization

basal body, mitochondria

References: PMID:24317785

Functional category

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

Function

Septins are either enriched at the apical cell cortex including the ciliary bases (septin-2, -4, -6, and -7), or show axonemal staining (septin-2, -7, -9 and -11) or specifically localize to ciliary sub-compartments (septin-8 and -9)(24317785).