ANKS1A

ankyrin repeat and sterile alpha motif domain containing 1A

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000064999
UniProt:
Q92625
OMIM:
608994
Synonyms:
ANKS1, KIAA0229

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-6.38) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
increased bone mineral content, decreased thigmotaxis, limb grasping, increased bone mineral density, preweaning lethality, incomplete penetrance, thin ventricular wall

Subcellular localization

basal body, nucleus

References: PMID:33504787

Functional category

  • Ciliary assembly/disassembly
  • Protein processing & maturation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

ANKS1A has role in the polarization of the basal foot, regulates FOP to build and maintain the polarity of subdistal appendages, ANKS1A deficiency leads to severe degeneration of the basal foot in aged mice and the detachment of cilia from their basal bodies (33504787).