SEPTIN8
septin 8
- Ensembl:
- ENSG00000164402
- UniProt:
- Q92599
- OMIM:
- 608418
- Synonyms:
- KIAA0202, SEP2, SEPT8, SEPTIN-8
Cilia effects upon perturbation of SEPTIN8
- Loss-of-function effect:
- Longer cilia
Phenotypes
- Mouse phenotype:
- decreased prepulse inhibition, decreased mean corpuscular volume, abnormal startle reflex, increased startle reflex, abnormal locomotor activation, decreased bone mineral density, increased circulating phosphate level
Subcellular localization
basal body, transition zone
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Transition zone
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).
Model organism evidence
C. elegans (1 reference)
Primary cilia rely on compartmentalisation mechanisms that establish the organelle's protein and lipid composition.
PMIDs: 41279625