DTX3L
Deltex E3 Ubiquitin Ligase 3L
Gene Information Card
| Symbol | DTX3L |
|---|---|
| Full Name | Deltex E3 Ubiquitin Ligase 3L |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 151636 ncbi.nlm.nih.gov/gene/151636 |
| Ensembl ID | ENSG00000163932 |
| UniProt ID | Q8TDB6 |
| OMIM ID | 617901 |
| HGNC ID | 30317 |
| Aliases | BBAP, DTL, FLJ23468, MGC131944 |
Description
DTX3L (Deltex E3 Ubiquitin Ligase 3L) encodes a member of the Deltex family of E3 ubiquitin ligases. The protein plays a role in ubiquitination and is involved in interferon signaling, DNA damage response, and immune regulation. DTX3L is often co-expressed with PARP9 and functions in antiviral responses and B-cell development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma | DTX3L overexpression may promote B-cell survival via ubiquitination of target proteins | PMID: 23525077 |
| Breast cancer | DTX3L amplification and overexpression linked to poor prognosis | PMID: 24651015 |
| Prostate cancer | DTX3L upregulation associated with tumor progression | PMID: 29187737 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 4.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| HeLa | 9.7 | Cervical carcinoma |
| A549 | 6.4 | Lung carcinoma |
| MCF7 | 5.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% | Unknown functional effect |
| c.1246G>A (p.Glu416Lys) | Missense | 0.005% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • zinc ion binding (GO:0008270) |
| • protein ubiquitination (GO:0016567) | • innate immune response (GO:0045087) |
| • nucleus (GO:0005634) |
Pathways
• Interferon signaling (Reactome: R-HSA-913531)
• Antiviral mechanism by IFN-stimulated genes (Reactome: R-HSA-1169410)
Protein Summary
DTX3L is a 740-amino acid E3 ubiquitin ligase containing a C-terminal RING finger domain. It interacts with PARP9 and is involved in ubiquitination of histone H2B and other substrates, modulating chromatin dynamics and gene expression. The protein is predominantly nuclear and is induced by interferon stimulation, playing a role in antiviral immunity and B-cell differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DTX3L Knockout HEK293 Cell Line | EDJ-KQ421 | Human | 151636 | 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 |
Displaying Records 1 To 4 Of 4 Records
