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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBR3
ubiquitin protein ligase E3 component n-recognin 3
Chromosome 2 · 2q31.1
NCBI Gene: 130507Ensembl: ENSG00000144357.19HGNC: HGNC:30467UniProt: Q6ZT12
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase activitycytoplasmsuckling behaviorneurodegenerative diseasediabetes mellituspreeclampsiaIGA glomerulonephritis
✦AI Summary

UBR3 is an E3 ubiquitin-protein ligase that regulates protein degradation through the ubiquitin-proteasome system across multiple biological processes. As a component of the N-end rule pathway, UBR3 mediates protein ubiquitination and subsequent degradation 1. The protein plays crucial roles in developmental processes, particularly in auditory organ development where it regulates the mono-ubiquitination of non-muscle Myosin II, promoting its interaction with Myosin VIIa, a protein associated with Usher syndrome 2. UBR3 also modulates Hedgehog signaling by promoting poly-ubiquitination and degradation of Costal-2 and Kif7, enhancing signaling in developing tissues 3. In cardiac physiology, UBR3 regulates Nav1.5 sodium channel protein levels through ubiquitin-mediated degradation, affecting cardiac action potential formation 4. Recent large-scale genomic studies have identified UBR3 variants associated with cardiometabolic diseases, neurodevelopmental disorders, and metabolic health, with protein-truncating variants independently increasing body mass index and type 2 diabetes risk 567. Additionally, UBR3 promotes inflammation and apoptosis in intervertebral disc degeneration through the DUSP1/p38 pathway 8, highlighting its broad pathological relevance beyond developmental functions.

Sources cited
1
UBR3 functions as E3 ubiquitin ligase in N-end rule pathway and controls protein processing
PMID: 26383956
2
UBR3 regulates Myosin II mono-ubiquitination and interaction with Myosin VIIa in auditory organs
PMID: 27331610
3
UBR3 modulates Hedgehog signaling through poly-ubiquitination of Costal-2 and Kif7
PMID: 27195754
4
UBR3 regulates cardiac Nav1.5 sodium channel protein levels via ubiquitin-proteasome pathway
PMID: 26059563
5
UBR3 variants associated with cardiometabolic disease in large-scale sequencing studies
PMID: 39210047
6
UBR3 protein-truncating variants independently increase BMI and type 2 diabetes risk
PMID: 41073786
7
UBR3 identified as candidate neurodevelopmental disorder gene through variant analysis
PMID: 35468861
8
UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in disc degeneration
PMID: 35332432
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
diabetes mellitusOpen Targets
0.27Weak
preeclampsiaOpen Targets
0.26Weak
IGA glomerulonephritisOpen Targets
0.23Weak
pericarditisOpen Targets
0.22Weak
Genu valgumOpen Targets
0.19Weak
hypertensionOpen Targets
0.19Weak
Abnormality of the integumentOpen Targets
0.19Weak
Genu varumOpen Targets
0.18Weak
type 2 diabetes mellitusOpen Targets
0.15Weak
obesityOpen Targets
0.10Suggestive
hypogonadotropic hypogonadism 27 without anosmiaOpen Targets
0.04Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
migraine disorderOpen Targets
0.04Suggestive
HyperhidrosisOpen Targets
0.03Suggestive
hypogonadotropic hypogonadismOpen Targets
0.03Suggestive
breast benign neoplasmOpen Targets
0.03Suggestive
male reproductive organ cancerOpen Targets
0.03Suggestive
DNA methylationOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBE2AProtein interaction75%UBE2BProtein interaction75%UBR7Protein interaction71%ATE1Shared pathway43%FBXO11Shared pathway20%NUB1Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
60%
Liver
30%
Lung
25%
Ovary
23%
Bone Marrow
17%
Gene Interaction Network
Click a node to explore
UBR3UBE2AUBE2BUBR7ATE1FBXO11NUB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZT12
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.35 [0.28–0.43]
RankingsWhere UBR3 stands among ~20K protein-coding genes
  • #10,720of 20,598
    Most Researched37
  • #2,286of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedUBR3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Rare coding variant analysis for human diseases across biobanks and ancestries.
PMID: 39210047
Nat Genet · 2024
1.00
2
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
PMID: 35468861
Genome Med · 2022
0.90
3
Population-scale gene-based analysis of whole-genome sequencing provides insights into metabolic health.
PMID: 41073786
Nat Genet · 2025
0.80
4
UBR3 promotes inflammation and apoptosis via DUSP1/p38 pathway in the nucleus pulposus cells of patients with intervertebral disc degeneration.
PMID: 35332432
Hum Cell · 2022
0.70
5
Pri sORF peptides induce selective proteasome-mediated protein processing.
PMID: 26383956
Science · 2015
0.60