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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DTX1
deltex E3 ubiquitin ligase 1
Chromosome 12 · 12q24.13
NCBI Gene: 1840Ensembl: ENSG00000135144.9HGNC: HGNC:3060UniProt: Q86Y01
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear bodycytosolregulation of Notch signaling pathwaynucleoplasmAbnormality of the skeletal systemmyocardial infarctionangina pectorisliver disease
✦AI Summary

DTX1 (deltex E3 ubiquitin ligase 1) functions as a regulator of the Notch signaling pathway, a critical cell-cell communication system involved in cell fate determination 1. As an E3 ubiquitin ligase, DTX1 mediates protein ubiquitination, though unlike DTX3L, it lacks the ability to directly ubiquitylate nucleic acids 2. The protein plays important roles in lymphatic development, where it participates in a mechanotransduction pathway involving Piezo1 and Orai1 that regulates flow-activated lymphatic expansion through Notch downregulation 3. DTX1 is located on chromosome 12 within the Noonan syndrome critical region, though its role in this disorder remains unclear 4. In cancer contexts, DTX1 appears to function as a tumor suppressor, particularly in head and neck squamous cell carcinoma (HNSCC), where it is downregulated by promoter hypermethylation 1. Loss of DTX1 expression may contribute to increased cell migration and tumor progression. Additionally, DTX1 is involved in genetic subtyping of diffuse large B-cell lymphoma as part of the BN2-like subtype 5. The protein also influences regulatory T cell function by affecting FOXP3 stability 6.

Sources cited
1
DTX1 regulates Notch signaling pathway and functions as tumor suppressor in HNSCC
PMID: 28146432
2
DTX1 lacks nucleic acid ubiquitylation activity unlike DTX3L
PMID: 39242775
3
DTX1 participates in flow-activated lymphatic expansion through Notch regulation
PMID: 35701867
4
DTX1 maps to chromosome 12q24 within Noonan syndrome critical region
PMID: 11153911
5
DTX1 is part of BN2-like genetic subtype in diffuse large B-cell lymphoma
PMID: 37032379
6
DTX1 affects FOXP3 stability in regulatory T cells
PMID: 38547750
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.47Moderate
myocardial infarctionOpen Targets
0.43Moderate
angina pectorisOpen Targets
0.33Weak
liver diseaseOpen Targets
0.32Weak
goutOpen Targets
0.31Weak
cirrhosis of liverOpen Targets
0.24Weak
esophageal carcinomaOpen Targets
0.23Weak
colorectal cancerOpen Targets
0.23Weak
polyp of colonOpen Targets
0.23Weak
chronic lymphocytic leukemiaOpen Targets
0.14Weak
neoplasmOpen Targets
0.13Weak
osteosarcomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
autoimmune diseaseOpen Targets
0.06Suggestive
major depressive disorderOpen Targets
0.06Suggestive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets
0.05Suggestive
Severe combined immunodeficiency due to adenosine deaminase deficiencyOpen Targets
0.05Suggestive
isolated agammaglobulinemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBPJProtein interaction100%MAML1Protein interaction99%NOTCH1Protein interaction93%CNTN1Protein interaction92%NOTCH2Protein interaction92%DNERProtein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
97%
Brain
52%
Heart
4%
Lung
4%
Ovary
3%
Gene Interaction Network
Click a node to explore
DTX1RBPJMAML1NOTCH1CNTN1NOTCH2DNER
PROTEIN STRUCTURE
Preparing viewer…
PDB6Y5P · 1.74 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.39–0.74]
RankingsWhere DTX1 stands among ~20K protein-coding genes
  • #9,439of 20,598
    Most Researched45
  • #5,827of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDTX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Piezo1-Regulated Mechanotransduction Controls Flow-Activated Lymphatic Expansion.
PMID: 35701867
Circ Res · 2022
1.00
2
Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.
PMID: 37032379
Signal Transduct Target Ther · 2023
0.90
3
Phycotoxins.
PMID: 10367395
J AOAC Int · 1999
0.80
4
Ubiquitylation of nucleic acids by DELTEX ubiquitin E3 ligase DTX3L.
PMID: 39242775
EMBO Rep · 2024
0.70
5
Integrative computational analysis of transcriptional and epigenetic alterations implicates DTX1 as a putative tumor suppressor gene in HNSCC.
PMID: 28146432
Oncotarget · 2017
0.60