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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBE3C
ubiquitin protein ligase E3C
Chromosome 7 · 7q36.3
NCBI Gene: 9690Ensembl: ENSG00000009335.20HGNC: HGNC:16803UniProt: Q15386
134PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein K29-linked ubiquitinationprotein K48-linked ubiquitinationubiquitin protein ligase activityprotein polyubiquitinationtype 2 diabetes mellitusneurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesdiabetes mellitusdiabetic neuropathy
✦AI Summary

UBE3C is an E3 ubiquitin ligase that catalyzes Lys-29- and Lys-48-linked polyubiquitin chain assembly, preferentially forming Lys-48 linkages 12. It accepts ubiquitin from E2 enzyme UBE2D1 and transfers it to substrate proteins 3. UBE3C functions in multiple regulatory pathways: it negatively regulates antiviral immunity by mediating IRF3 degradation during the late stage of viral infection, allowing timely resolution of innate responses 4; suppresses autophagy by ubiquitinating and degrading VPS34 5; and regulates protein aggregate turnover in a proteasome-dependent manner independent of autophagy involvement 6. In cancer contexts, UBE3C promotes progression by ubiquitinating and degrading tumor suppressors: p53 in pancreatic cancer 7, PEBP1 in renal carcinoma 8, and AHNAK in osteosarcoma 9. Biallelic loss-of-function variants in UBE3C cause neurodevelopmental disorders with absent speech, movement abnormalities, and behavioral features overlapping Angelman syndrome, establishing UBE3C as a novel disease gene 10.

Sources cited
1
UBE3C catalyzes Lys-29- and Lys-48-linked polyubiquitin chain assembly
PMID: 11278995
2
UBE3C preferentially forms Lys-48-linked ubiquitin chains
PMID: 16601690
3
UBE3C accepts ubiquitin from E2 enzyme UBE2D1 in thioester form and transfers to substrates
PMID: 32039437
4
UBE3C mediates IRF3 ubiquitination and degradation in late stage of viral infection to resolve innate immune response
PMID: 39120972
5
UBE3C acts as negative regulator of autophagy by ubiquitinating and promoting degradation of VPS34
PMID: 33637724
6
UBE3C mediates proteasome-dependent degradation of misfolded protein aggregates independently of autophagy
PMID: 39636856
7
UBE3C catalyzes p53 ubiquitination and degradation to promote pancreatic cancer progression
PMID: 40553397
8
UBE3C ubiquitinates and degrades PEBP1 to activate ERK signaling in renal carcinoma
PMID: 35840930
9
UBE3C ubiquitinates AHNAK to promote osteosarcoma progression by suppressing ferroptosis
PMID: 40696164
10
Biallelic loss-of-function UBE3C variants cause neurodevelopmental disorder with absent speech and movement abnormalities
PMID: 36401616
Disease Associationsⓘ21
type 2 diabetes mellitusOpen Targets
0.47Moderate
neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesOpen Targets
0.45Moderate
diabetes mellitusOpen Targets
0.44Moderate
diabetic neuropathyOpen Targets
0.37Weak
diabetic retinopathyOpen Targets
0.33Weak
neuroendocrine neoplasmOpen Targets
0.31Weak
tympanic membrane perforationOpen Targets
0.29Weak
diabetic eye diseaseOpen Targets
0.29Weak
metabolic syndromeOpen Targets
0.29Weak
nephritisOpen Targets
0.27Weak
NephropathyOpen Targets
0.27Weak
type 2 diabetes nephropathyOpen Targets
0.27Weak
joint diseaseOpen Targets
0.27Weak
rheumatic diseaseOpen Targets
0.26Weak
type 1 diabetes mellitusOpen Targets
0.22Weak
diabetic polyneuropathyOpen Targets
0.22Weak
Phenotypic abnormalityOpen Targets
0.22Weak
exostosisOpen Targets
0.18Weak
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesUniProt
Pathogenic Variants1
NM_014671.3(UBE3C):c.1999del (p.Asp667fs)Pathogenic
See cases|Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
★★☆☆2024→ Residue 667
View on ClinVar ↗
Related Genes
PSMD14Protein interaction100%PSMD2Protein interaction100%PSMD4Protein interaction100%UBCProtein interaction100%UBE2L3Protein interaction89%PSME4Protein interaction88%
Tissue Expression6 tissues
Heart
100%
Brain
71%
Liver
62%
Lung
53%
Ovary
50%
Bone Marrow
44%
Gene Interaction Network
Click a node to explore
UBE3CPSMD14PSMD2PSMD4UBCUBE2L3PSME4
PROTEIN STRUCTURE
Preparing viewer…
PDB6K2C · 2.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.26–0.43]
RankingsWhere UBE3C stands among ~20K protein-coding genes
  • #3,473of 20,598
    Most Researched134 · top quartile
  • #4,800of 5,498
    Most Pathogenic Variants1
  • #2,282of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedUBE3C
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The deubiquitinase BAP1 and E3 ligase UBE3C sequentially target IRF3 to activate and resolve the antiviral innate immune response.
PMID: 39120972
Cell Rep · 2024
1.00
2
Temporal control of acute protein aggregate turnover by UBE3C and NRF1-dependent proteasomal pathways.
PMID: 39636856
Proc Natl Acad Sci U S A · 2024
0.90
3
Quality Control of ER Membrane Proteins by the RNF185/Membralin Ubiquitin Ligase Complex.
PMID: 32738194
Mol Cell · 2020
0.80
4
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
PMID: 36401616
Genet Med · 2023
0.70
5
METTL5-mediated m6A modification of UBE3C promotes osteosarcoma progression by suppressing ferroptosis via inducing AHNAK ubiquitination.
PMID: 40696164
J Mol Histol · 2025
0.60