JADE1
Description
The JADE1 (jade family PHD finger 1) is a protein-coding gene located on chromosome 4.
JADE1 is a protein that in humans is encoded by the JADE1 gene. JADE1 is classified as a member of the PHD protein family. There are two known protein products of the PHF17 gene, the full length JADE1 (JADE1L) and its splice variant missing the C-terminal fragment also called short isoform (JADE1S). The JADE family includes three members encoded by individual genes: Plant Homeo-domain-17 (PHF17, JADE1), PHF16 (JADE3), and PHF15 (JADE2). All JADE family proteins bear two notable mid molecule domains: the canonical Plant Homeo-domain (PHD) zinc finger and extended PHD-like zinc finger. The predicted 702-amino acid protein product of the clone KIAA1807 was similar to the human zinc finger protein BR140 (BRPF1). Using yeast two hybrid pull down approach to search for new partners of protein product of the Von Hippel Lindau gene (pVHL) another study identified cDNA which matched to KIAA1807 clone.
JADE1 is a scaffold subunit of certain HBO1 complexes, which exhibit histone H4 acetyltransferase activity. It plays a crucial role in HBO1 complexes by directing KAT7/HBO1 specificity towards histone H4 acetylation (H4K5ac, H4K8ac, and H4K12ac), thereby regulating DNA replication initiation. Additionally, JADE1 may promote acetylation of nucleosomal histone H4 by KAT5. JADE1 promotes apoptosis and may act as a renal tumor suppressor. It negatively regulates canonical Wnt signaling, potentially cooperating with NPHP4 in this function.
JADE1 is also known as PHF17.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- female infertility due to oocyte meiotic arrest
- partial chromosome Y deletion
- female infertility due to zona pellucida defect
- oocyte maturation defect 9
- premature ovarian failure 19
- spermatogenic failure 3
