JADE1 Gene - JADE Family PHD Finger 1
A key regulator of histone acetylation and chromatin remodeling, implicated in renal development and cancer.
Gene Information Card
| Symbol | JADE1 |
|---|---|
| Full Name | Jade Family PHD Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q28.2 |
| NCBI Gene ID | 79960 ncbi.nlm.nih.gov/gene/79960 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q6IE81 |
| OMIM ID | 610514 |
| HGNC ID | 23082 |
| Aliases | PHF17, JADE-1, KIAA1807 |
Description
JADE1 (Jade Family PHD Finger 1) encodes a protein containing a plant homeodomain (PHD) finger that functions as a scaffold component of the HBO1 (MYST1) histone acetyltransferase complex. This complex specifically acetylates histone H4 at lysine residues 5, 8, and 12, and histone H3 at lysine 14, thereby regulating chromatin structure and gene expression. JADE1 is involved in cell cycle progression, DNA replication, and transcriptional regulation. It is highly expressed in kidney and plays a role in renal development and tumor suppression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal cell carcinoma | Loss of JADE1 expression leads to reduced HBO1 complex activity, promoting cell proliferation and tumorigenesis. | PMID: 21804533 |
| Wilms tumor (nephroblastoma) | JADE1 interacts with WTX (Wilms tumor gene on X) to modulate beta-catenin signaling and chromatin acetylation. | PMID: 21499274 |
| Clear cell renal cell carcinoma | JADE1 downregulation correlates with poor prognosis and increased metastatic potential. | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 32.5 | High |
| Testis | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 (embryonic kidney) | 45.3 | High endogenous expression |
| HeLa (cervical cancer) | 22.1 | Moderate expression |
| A549 (lung cancer) | 15.6 | Low expression |
| MCF7 (breast cancer) | 10.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1243C>T (p.Arg415*) | Nonsense | <0.1% | Loss of function; truncation of PHD finger domain |
| c.782G>A (p.Arg261Gln) | Missense | <0.1% | Reduced binding to HBO1 complex |
| c.1015_1016del (p.Leu339fs) | Frameshift | <0.1% | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate or destabilize the JADE1 protein, impairing HBO1 complex assembly and histone acetylation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for JADE1.
Dominant Negative (DN)
Missense mutations in the PHD finger domain may disrupt chromatin binding and exert dominant-negative effects on HBO1 complex activity.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • transcription (GO:0006351) |
| • histone acetyltransferase activity (GO:0004402) | • histone H3 acetylation (GO:0043966) |
| • histone H4 acetylation (GO:0043967) | • cell proliferation (GO:0008283) |
Pathways
• HBO1 complex-mediated histone acetylation (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05203)
• Transcriptional regulation by MYST1 (WikiPathways: WP4754)
Protein Summary
The JADE1 protein (UniProt Q6IE81) is a 789-amino acid scaffold that contains a PHD finger domain (residues 377-427) and a coiled-coil region. It forms a stoichiometric complex with HBO1 (MYST1), ING4/5, and EAF6 to acetylate histone H4 at K5, K8, K12 and histone H3 at K14. JADE1 stabilizes the complex and recruits it to chromatin. The protein is predominantly nuclear and is expressed at highest levels in kidney and testis. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JADE1 Knockout HEK293 Cell Line | EDJ-KQ13876 | Human | 79960 | Details Get a Quote |
| JADE1 Knockout A-549 Cell Line | EDJ-KQ43722 | Human | 79960 | Details Get a Quote |
| JADE1 Knockout HCT 116 Cell Line | EDJ-KQ43723 | Human | 79960 | Details Get a Quote |
| JADE1 Knockout HeLa Cell Line | EDJ-KQ43724 | Human | 79960 | Details Get a Quote |
