DTX3 (Deltex E3 Ubiquitin Ligase 3)
A Notch signaling modulator and E3 ubiquitin ligase involved in developmental and oncogenic processes
Gene Information Card
| Symbol | DTX3 |
|---|---|
| Full Name | Deltex E3 Ubiquitin Ligase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 196403 ncbi.nlm.nih.gov/gene/196403 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8N9I9 |
| OMIM ID | 611194 |
| HGNC ID | 15962 |
| Aliases | RNF168, Deltex3 |
Description
DTX3 encodes a member of the Deltex family of E3 ubiquitin ligases, which are involved in ubiquitination and regulation of Notch signaling. The protein contains a RING-type zinc finger domain and is implicated in protein degradation pathways, cell differentiation, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | DTX3 overexpression may promote tumor growth via Notch pathway dysregulation | PMID: 25605248 |
| Colorectal cancer | Altered DTX3 expression linked to poor prognosis and metastasis | PMID: 29348694 |
| Hepatocellular carcinoma | DTX3 upregulation associated with aggressive tumor features | PMID: 31065110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Breast | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HepG2 | 7.8 | Liver cancer |
| MCF7 | 6.5 | Breast cancer |
| A549 | 5.2 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown functional impact |
| c.632_633insA (p.Gln211fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln211fs) likely disrupt the RING domain, impairing ubiquitin ligase activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DTX3.
Dominant Negative (DN)
Not documented for DTX3.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • protein binding (GO:0005515) |
| • Notch signaling pathway (GO:0007219) | • protein ubiquitination (GO:0016567) |
| • nucleus (GO:0005634) |
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
DTX3 is a 618-amino acid E3 ubiquitin ligase with a C-terminal RING finger domain. It mediates ubiquitination of target proteins, including components of the Notch receptor complex, thereby modulating signal transduction. The protein is predominantly nuclear and expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTX3 Knockout HEK293 Cell Line | EDJ-KQ420 | Human | 196403 | Details Get a Quote |
| DTX3L Knockout HEK293 Cell Line | EDJ-KQ421 | Human | 151636 | Details Get a Quote |
| DTX3 Knockout A-549 Cell Line | EDJ-KQ17996 | Human | 196403 | Details Get a Quote |
| DTX3 Knockout HeLa Cell Line | EDJ-KQ18691 | Human | 196403 | Details Get a Quote |
| DTX3L Knockout A-549 Cell Line | EDJ-KQ18692 | Human | 151636 | Details Get a Quote |
| DTX3L Knockout HCT 116 Cell Line | EDJ-KQ18693 | Human | 151636 | Details Get a Quote |
| DTX3L Knockout HeLa Cell Line | EDJ-KQ18694 | Human | 151636 | Details Get a Quote |
| DTX3 Knockout HCT 116 Cell Line | EDJ-KQ75849 | Human | 196403 | Details Get a Quote |
