JADE1

jade family PHD finger 1

Ensembl:
ENSG00000077684
UniProt:
Q6IE81
OMIM:
610514
Synonyms:
JADE-1, PHF17

Cilia effects upon perturbation of JADE1

Ciliogenesis screen results (1 screen)

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

Phenotypes

Mouse ciliopathy phenotype:
female infertility, male infertility

Subcellular localization

basal body, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Ubiquitin ligase targeting 尾- catenin for proteasomal degradation. Component of the NPHP protein complex, interacting with NPHP4 which facilitates JADE-1 nuclear traslocation, leading to decreased canonical Wnt sig ling (22654112, 25100726).