SPG11

SPG11 vesicle trafficking associated, spatacsin

Ensembl:
ENSG00000104133
UniProt:
Q96JI7
OMIM:
610844
Synonyms:
ALS5, FLJ21439, KIAA1840

Cilia effects upon perturbation of SPG11

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse phenotype:
increased leukocyte cell number, decreased exploration in new environment, increased startle reflex, increased total body fat amount, prolonged rr interval, decreased circulating total protein level, decreased heart rate

Subcellular localization

cilia, microtubules, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Cardiac & muscle development

Function

Six of the iNPH-associated proteins examined (Cwh43, Rxfp2, Ak9, HAVCR1/Kim1, spatacsin, and myo7A) localized to ependymal motile cilia in vivo or in cultured mouse ependymal cells (38100419).

Model organism evidence

Mus musculus (1 reference)

Mice homozygous for an iNPH-associated AK9 mutation displayed normal cilia structure and number, but decreased cilia motility and beat frequency, communicating hydrocephalus, and balance impairment.

PMIDs: 38100419