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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBE4B
ubiquitination factor E4B
Chromosome 1 · 1p36.22
NCBI Gene: 10277Ensembl: ENSG00000130939.21HGNC: HGNC:12500UniProt: O95155
109PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
response to UVprotein bindingproteasome-mediated ubiquitin-dependent protein catabolic processgranzyme-mediated apoptotic signaling pathwayatrial fibrillationneurodegenerative diseaseatrial fluttermultinodular goiter
✦AI Summary

UBE4B (ubiquitination factor E4B) is a dual-function E3/E4 ubiquitin ligase that catalyzes polyubiquitin chain assembly on protein substrates 1. As an E4 ligase, UBE4B elongates ubiquitin chains initiated by other E3 ligases, directing substrates for proteasomal degradation 2. Mechanistically, UBE4B interacts with E3 ligases and substrates to mediate their ubiquitination; for example, it cooperates with MDM2 to polyubiquitinate p53, enabling its proteasomal degradation and suppressing p53-dependent apoptosis 1. UBE4B also targets mitofusins for degradation during mitochondrial stress responses 2 and regulates FAT4 ubiquitination in gastric cancer 3. Disease relevance is substantial. UBE4B haploinsufficiency contributes to 1p36 deletion syndrome, characterized by developmental delay, intellectual disability, seizures, and cardiac defects 4. In cancer, UBE4B is overexpressed in gastric cancer and hepatocellular carcinoma, where it promotes proliferation and metastasis through substrate degradation 35. UBE4B also participates in neurodegenerative disease pathways, including tau seed amplification in tauopathies and Charcot-Marie-Tooth disease-associated mitofusin dysfunction 26. Clinically, UBE4B represents a promising therapeutic target: inhibiting UBE4B-MDM2 interactions could restore p53 function for cancer treatment 1, while targeting UBE4B-dependent pathways may address cancer metastasis and neurodegeneration 35.

Sources cited
1
UBE4B is an E3/E4 ubiquitin ligase that interacts with MDM2 and p53 to mediate p53 polyubiquitination and degradation
PMID: 21558803
2
UBE4B functions as an E4 ubiquitin chain-elongating enzyme that promotes mitofusin degradation and mitochondrial stress responses, with relevance to Charcot-Marie-Tooth disease
PMID: 37595558
3
UBE4B is highly expressed in gastric cancer and promotes cancer proliferation and metastasis by mediating FAT4 ubiquitination and degradation
PMID: 40701960
4
UBE4B regulates JAK1 ubiquitination and NF-κB pathway activation to promote hepatocellular carcinoma metastasis
PMID: 40073276
5
UBE4B haploinsufficiency is implicated in 1p36 deletion syndrome, associated with developmental delay, intellectual disability, seizures, and cardiac defects
PMID: 26345236
6
UBE4B is a VCP cofactor that regulates early tau seed amplification in tauopathies
PMID: 39773263
7
UBE4B functions as a master regulatory E3/E4 ligase in neuronal survival/death pathways and is associated with neurodegenerative diseases including polyglutamine aggregation
PMID: 23222733
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.41Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
atrial flutterOpen Targets
0.31Weak
multinodular goiterOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.22Weak
Alzheimer diseaseOpen Targets
0.22Weak
ovarian dysfunctionOpen Targets
0.21Weak
developmental disorder of mental healthOpen Targets
0.12Weak
neuroblastomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
nasopharyngeal carcinomaOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
renal cell carcinomaOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.07Suggestive
cancerOpen Targets
0.07Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBE2D1Protein interaction100%UBXN7Protein interaction100%NSFL1CProtein interaction100%YOD1Protein interaction99%VCPProtein interaction97%PLAAProtein interaction97%
Tissue Expression6 tissues
Heart
100%
Brain
90%
Ovary
64%
Bone Marrow
56%
Lung
47%
Liver
45%
Gene Interaction Network
Click a node to explore
UBE4BUBE2D1UBXN7NSFL1CYOD1VCPPLAA
PROTEIN STRUCTURE
Preparing viewer…
PDB5O75 · 1.48 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.24Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.17 [0.12–0.24]
RankingsWhere UBE4B stands among ~20K protein-coding genes
  • #4,387of 20,598
    Most Researched109 · top quartile
  • #683of 17,882
    Most Constrained (LOEUF)0.24 · top 5%
Genes detectedUBE4B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
1p36 deletion syndrome: an update.
PMID: 26345236
Appl Clin Genet · 2015
1.00
2
UBE4B promotes gastric cancer proliferation and metastasis by mediating FAT4 ubiquitination and degradation.
PMID: 40701960
Cell Death Dis · 2025
0.90
3
CAD manipulates tumor intrinsic DHO/UBE4B/NF-κB pathway and fuels macrophage cross-talk, promoting HCC metastasis.
PMID: 40073276
Hepatology · 2026
0.80
4
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
PMID: 37595558
Mol Cell · 2023
0.70
5
UBE4B, a ubiquitin chain assembly factor, is required for MDM2-mediated p53 polyubiquitination and degradation.
PMID: 21558803
Cell Cycle · 2011
0.60