ENKD1

enkurin domain containing 1 [Source:HGNC Symbol,Acc:HGNC:25246], enkurin domain containing 1

Ensembl:
ENSG00000124074
UniProt:
Q9H0I2
Synonyms:
C16ORF48, DKFZP434A1319, FBB11, C16ORF48, DKFZP434A1319

Cilia effects upon perturbation of ENKD1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Not Reported, not reported

Ciliogenesis screen results (1 screen)

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

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Transition zone

Function

ENKD1 is a centrosomal protein and initiates mother centriole uncapping through competing with CEP97 in binding to CP110. Loss of ENKD1 in mice causes multi‐organ developmental abnormalities due to ciliogenesis defects. Depletion of ENKD1 in mice impairs the formation of both primary and motile cilia in multiple organs. ENKD1 localizes to the centrosome and interacts with CP110 directly to license mother centriole uncapping. Depletion of ENKD1 enhances the CP110‐CEP97 interaction and inhibits CP110 removal from the mother centriole(PMID: 35301795)., ENKD1 has localized in ciliary tip, basal body, transition zone. The cilia that formed in ENKD1-depleted cells were slightly shorter as compared to control cells

Model organism evidence

Mus musculus (1 reference)

ENKD1 promotes CP110 removal through competing with CEP97 to initiate ciliogenesis.

PMIDs: 35301795