SAXO1

stabilizer of axonemal 1

Ensembl:
ENSG00000155875
UniProt:
Q8IYX7
OMIM:
616292
Synonyms:
C9ORF138, FAM154A, MGC35182

Cilia effects upon perturbation of SAXO1

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Longer cilia
Overexpression effect:
Unknown

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
hyperactivity, decreased lymphocyte cell number, decreased body length, increased eosinophil cell number
Mouse ciliopathy phenotype:
abnormal vitreous body morphology

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Reproduction & sperm

Function

FAM154A. A microtubule- stabilizing protein specific to cilia and related structures. Regulates cilium axonemal length and promotes microtubule assembly in Hela , RPE1 cells and Trypanosome Brucei (33200789). It binds specifically to centriole and cilium and is responsible for their targeting and stabilisation. SAXO1 is also reported to be present across the length of human sperm flagellum where it colocalizes with δΌͺ-tubulin, where it could play a role in its biogenesis, stability and length (25673876)