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).