UBE2L3 Gene: Ubiquitin Conjugating Enzyme E2 L3
A key component of the ubiquitin-proteasome system involved in immune regulation and cancer.
Gene Information Card
| Symbol | UBE2L3 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 L3 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 7332 ncbi.nlm.nih.gov/gene/7332 |
| Ensembl ID | ENSG00000100225 |
| UniProt ID | P68036 |
| OMIM ID | 603721 |
| HGNC ID | 12488 |
| Aliases | UBCE7, UBCH7, E2-F1, L-UBC |
Description
UBE2L3 encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme catalyzes the second step in ubiquitin conjugation, accepting ubiquitin from an E1 activating enzyme and transferring it to an E3 ligase or directly to a substrate. UBE2L3 is involved in multiple cellular processes including cell cycle control, immune signaling, and protein degradation. It is associated with autoimmune diseases and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus (SLE) | UBE2L3 variants increase NF-κB activation and interferon signaling, contributing to autoimmunity. | GWAS association (PMID: 21108584) |
| Rheumatoid arthritis | Risk variants in UBE2L3 modulate immune cell function and cytokine production. | GWAS meta-analysis (PMID: 24390342) |
| Crohn's disease | UBE2L3 expression influences intestinal epithelial barrier and inflammatory response. | GWAS (PMID: 21102463) |
| Breast cancer | UBE2L3 overexpression promotes tumor growth via ubiquitination of p53 and other substrates. | Expression studies (PMID: 25636800) |
| Prostate cancer | UBE2L3 upregulation correlates with poor prognosis and androgen receptor signaling. | Expression and survival analysis (PMID: 28991257) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 38.5 | High |
| Spleen | 35.2 | High |
| Bone marrow | 30.1 | High |
| Lung | 18.7 | Medium |
| Breast | 12.4 | Medium |
| Liver | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.3 | High expression |
| HeLa | 38.7 | High expression |
| MCF7 | 25.1 | Medium expression |
| K562 | 22.6 | Medium expression |
| A549 | 15.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs140490 (intronic) | SNP | 0.25 (CEU) | Associated with SLE and rheumatoid arthritis risk |
| rs5754217 (intronic) | SNP | 0.18 (CEU) | Associated with Crohn's disease |
| c.337G>A (p.A113T) | Missense | <0.01 | Rare variant; functional impact unknown |
| c.1A>G (p.M1V) | Missense | <0.01 | Potential loss of start codon; rare |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.A113T) may reduce ubiquitin-conjugating activity, impairing protein degradation and immune signaling.
Gain of Function (GOF)
Overexpression in cancers suggests gain-of-function through enhanced ubiquitination of tumor suppressors like p53.
Dominant Negative (DN)
No dominant-negative mutations reported in UBE2L3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• NF-kappa B signaling pathway (KEGG: hsa04064)
• p53 signaling pathway (KEGG: hsa04115)
• Antigen processing and presentation (KEGG: hsa04612)
Protein Summary
UBE2L3 (also known as UBCH7) is a 183-amino acid E2 ubiquitin-conjugating enzyme with a conserved catalytic cysteine residue (Cys86). It accepts ubiquitin from E1 enzymes and transfers it to E3 ligases such as HECT and RBR families. UBE2L3 is essential for ubiquitination of substrates including p53, NF-κB, and steroid hormone receptors. Its expression is ubiquitous with highest levels in lymphoid tissues. Dysregulation contributes to autoimmune diseases and cancer.
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