DTX1: Deltex E3 Ubiquitin Ligase 1
A key regulator of Notch signaling and lymphoid development
Gene Information Card
| Symbol | DTX1 |
|---|---|
| Full Name | Deltex E3 Ubiquitin Ligase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.13 |
| NCBI Gene ID | 1840 ncbi.nlm.nih.gov/gene/1840 |
| Ensembl ID | ENSG00000135144 |
| UniProt ID | Q86Y01 |
| OMIM ID | 602582 |
| HGNC ID | 3060 |
| Aliases | Deltex1, hDTX1 |
Description
DTX1 encodes a member of the Deltex family of E3 ubiquitin ligases, which function as negative regulators of Notch signaling. The protein contains a RING-type zinc finger domain and interacts with the intracellular domain of Notch receptors, promoting their ubiquitination and degradation. DTX1 is highly expressed in lymphoid tissues and plays a critical role in T-cell development and differentiation. Dysregulation of DTX1 has been implicated in various cancers, particularly lymphoid malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Loss of DTX1 expression leads to aberrant Notch1 activation, promoting leukemogenesis | PMID: 19549907 |
| Diffuse large B-cell lymphoma | DTX1 mutations and reduced expression contribute to altered Notch signaling | PMID: 28481359 |
| Hepatocellular carcinoma | DTX1 overexpression correlates with poor prognosis and may modulate Notch pathway | PMID: 29669787 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 8.3 | Medium |
| Bone marrow | 6.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| Raji (Burkitt lymphoma) | 9.7 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | 0.2% in T-ALL | Loss of function; truncated protein |
| c.487_488del (p.Leu163fs) | Frameshift | 0.1% in DLBCL | Loss of function; premature stop |
| c.1234G>A (p.Gly412Arg) | Missense | 0.05% in solid tumors | Unknown; likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in DTX1 result in truncated or absent protein, leading to reduced ubiquitination and stabilization of Notch1, contributing to oncogenic signaling in T-ALL and DLBCL.
Gain of Function (GOF)
No recurrent gain-of-function mutations have been reported for DTX1.
Dominant Negative (DN)
Some missense variants in the RING domain may interfere with wild-type DTX1 function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG hsa04330)
• Ubiquitin mediated proteolysis (KEGG hsa04120)
Protein Summary
DTX1 is a 712-amino acid E3 ubiquitin ligase containing an N-terminal WWE domain, a central proline-rich region, and a C-terminal RING finger domain. It ubiquitinates the Notch intracellular domain (NICD), targeting it for proteasomal degradation, thereby attenuating Notch signaling. DTX1 is predominantly cytoplasmic but can translocate to the nucleus. Its expression is tightly regulated during T-cell development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTX1 Knockout HEK293 Cell Line | EDJ-KQ418 | Human | 1840 | Details Get a Quote |
| DTX1 Knockout HeLa Cell Line | EDJ-KQ53127 | Human | 1840 | Details Get a Quote |
| DTX1 Knockout A-549 Cell Line | EDJ-KQ61600 | Human | 1840 | Details Get a Quote |
| DTX1 Knockout HCT 116 Cell Line | EDJ-KQ70089 | Human | 1840 | Details Get a Quote |
