SEPTIN11
septin 11
- Ensembl:
- ENSG00000138758
- UniProt:
- Q9NVA2
- OMIM:
- 612887
- Synonyms:
- FLJ10849, SEPT11, SEPTIN-11
Cilia effects upon perturbation of SEPTIN11
- Loss-of-function effect:
- Shorter cilia
Phenotypes
- Mouse phenotype:
- preweaning lethality, complete penetrance, embryonic growth retardation, abnormal embryo size, pretal lethality prior to heart atrial septation, embryonic lethality prior to tooth bud stage
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
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