SAXO6

Mdm1 nuclear protein

Ensembl:
ENSG00000111554
UniProt:
Q8TC05
OMIM:
613813
Synonyms:
MDM1

Cilia effects upon perturbation of SAXO6

Phenotypes

Mouse ciliopathy phenotype:
short tibia

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

basal body, cilia, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Upregulated during ciliogenesis (23300604). Microtubule- binding protein. Negative regulator of centriole duplication through microtubule binding. Overexpression of MDM1 suppresses centriole duplication and results in stabilization of (26337392). It might interact with members of the Hedgehog sig ling pathway, as this pathway is tightly linked with cilia (27658201)

Model organism evidence

Mus musculus (3 references)

Additionally, the MDM1 protein was found to be expressed in the centrosomes, cilia, and the nucleus of multiciliated tracheal epithelial cells in mice.

Mouse double-minute 1 (Mdm1) was originally identified as a gene amplified in transformed mouse cells and more recently as being highly up-regulated during differentiation of multiciliated epithelial cells, a specialized cell type having hundreds of centrioles and motile cilia.

PMIDs: 27658201, 26337392, 23300604