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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DTX3L
deltex E3 ubiquitin ligase 3L
Chromosome 3 · 3q21.1
NCBI Gene: 151636Ensembl: ENSG00000163840.10HGNC: HGNC:30323UniProt: Q8TDB6
66PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomeprotein-containing complexcytosolenzyme inhibitor activityneurodegenerative diseasediffuse large B-cell lymphomacancermelanoma
✦AI Summary

DTX3L (deltex E3 ubiquitin ligase 3L) is a multi-domain E3 ubiquitin ligase with diverse roles in DNA damage repair, antiviral immunity, and cancer biology 1. In DNA repair, DTX3L associates with PARP9 to monoubiquitinate histones H2A, H2B, H3, and H4, mediating H4K91 ubiquitination that facilitates recruitment of repair factors 53BP1, RAP80, and BRCA1 to damage sites 2. DTX3L regulates DNA repair pathway choice by ubiquitinating TIRR, promoting its nuclear export and degradation to modulate 53BP1 activity and PARP inhibitor sensitivity 2. In antiviral responses, DTX3L promotes interferon-stimulated gene transcription by monoubiquitinating histone H2B and mediates degradation of viral proteases through K48-linked ubiquitination 3. The enzyme's activity is regulated by NAD+ concentration and binding partners 1. In lymphatic development, DTX3L functions downstream of Piezo1-mediated mechanotransduction to promote sprouting through Notch downregulation 4. Clinically, DTX3L is dysregulated in multiple cancers including esophageal squamous cell carcinoma and prostate cancer, promoting tumorigenesis through effects on proliferation and migration 5. DTX3L mediates FPN1 degradation during viral infection, disrupting iron homeostasis and suppressing antiviral defenses 6, and regulates muscle fibrosis in cancer cachexia through Runx2 ubiquitination 7.

Sources cited
1
DTX3L is a multi-domain E3 ubiquitin ligase with N-terminal oligomerization, D3, RING, and DTC domains; activity modulated by NAD+ and binding partners
PMID: 36421918
2
DTX3L ubiquitinates TIRR at lysine 187, promoting nuclear export and degradation to regulate DNA repair pathway choice and PARP inhibitor sensitivity
PMID: 39632881
3
PARP9-DTX3L regulates interferon-induced ADP-ribosylation and ADPr-dependent ubiquitylation in antiviral responses
PMID: 38834853
4
DTX3L functions downstream of Piezo1 mechanotransduction in lymphatic endothelial cells to promote sprouting through Notch downregulation
PMID: 35701867
5
DTX3L expression increases with esophageal squamous cell carcinoma progression and its knockdown inhibits proliferation, migration, and macrophage polarization
PMID: 39696540
6
DTX3L mediates polyubiquitination and degradation of ferroportin (FPN1) during viral infection, suppressing type I interferon responses
PMID: 40595467
7
DTX3L negatively regulates Runx2 through ubiquitination, thereby reducing COL1A1 expression and alleviating cancer cachexia-induced skeletal muscle fibrosis
PMID: 39091264
8
DTX3L is dysregulated in multiple malignancies including cervical cancer, melanoma, prostate cancer, and pancreatic cancer, emerging as a cancer biomarker and therapeutic target
PMID: 40695431
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.29Weak
diffuse large B-cell lymphomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.07Suggestive
plasma fibronectin deficiencyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.06Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
Epidermal Inclusion CystOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
atrial fibrillationOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARP14Protein interaction98%PARP15Protein interaction95%NOTCH1Protein interaction93%STAT1Protein interaction93%NOTCH2Protein interaction86%NOTCH4Protein interaction86%
Tissue Expression6 tissues
Liver
100%
Lung
89%
Heart
41%
Ovary
38%
Bone Marrow
34%
Brain
23%
Gene Interaction Network
Click a node to explore
DTX3LPARP14PARP15NOTCH1STAT1NOTCH2NOTCH4
PROTEIN STRUCTURE
Preparing viewer…
PDB3PG6 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.38–0.69]
RankingsWhere DTX3L stands among ~20K protein-coding genes
  • #7,055of 20,598
    Most Researched66
  • #5,149of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedDTX3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Piezo1-Regulated Mechanotransduction Controls Flow-Activated Lymphatic Expansion.
PMID: 35701867
Circ Res · 2022
1.00
2
PARP14 and PARP9/DTX3L regulate interferon-induced ADP-ribosylation.
PMID: 38834853
EMBO J · 2024
0.90
3
Spatial transcriptome profiling identifies DTX3L and BST2 as key biomarkers in esophageal squamous cell carcinoma tumorigenesis.
PMID: 39696540
Genome Med · 2024
0.80
4
DTX3L-mediated TIRR nuclear export and degradation regulates DNA repair pathway choice and PARP inhibitor sensitivity.
PMID: 39632881
Nat Commun · 2024
0.70
5
l-Carnitine relieves cachexia-related skeletal muscle fibrosis by inducing deltex E3 ubiquitin ligase 3L to negatively regulate the Runx2/COL1A1 axis.
PMID: 39091264
J Cachexia Sarcopenia Muscle · 2024
0.60