UBE2I (UBC9): SUMO-Conjugating Enzyme in Cellular Regulation
A comprehensive biomedical overview of UBE2I, its genomic context, expression, disease associations, and functional roles.
Gene Information Card
| Symbol | UBE2I |
|---|---|
| Full Name | Ubiquitin conjugating enzyme E2 I |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 7329 ncbi.nlm.nih.gov/gene/7329 |
| Ensembl ID | ENSG00000103275 |
| UniProt ID | P63279 |
| OMIM ID | 601661 |
| HGNC ID | 12485 |
| Aliases | UBC9, C358B7.1, SUMO-1-conjugating enzyme UBC9 |
Description
UBE2I encodes UBC9, the sole E2 conjugating enzyme for SUMO (Small Ubiquitin-like Modifier) proteins. It catalyzes the covalent attachment of SUMO to target proteins, a post-translational modification that regulates numerous cellular processes including nuclear transport, transcriptional regulation, DNA repair, and cell cycle progression. UBE2I is essential for viability and its dysregulation has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered UBE2I expression affects SUMOylation of oncoproteins and tumor suppressors, influencing proliferation and apoptosis. | COSMIC, PubMed |
| Neurodegenerative disorders | Impaired SUMOylation may contribute to protein aggregation and neuronal dysfunction. | PubMed |
| Infectious diseases | Some pathogens exploit host SUMOylation machinery, including UBE2I, for their replication. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High | Highest expression among tissues |
| Lymph node | High | Immune-related tissues show high expression |
| Bone marrow | High | Hematopoietic tissues |
| Brain | Medium | Widespread but moderate |
| Liver | Medium | Moderate expression |
| Kidney | Medium | Moderate expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| K562 | High | Chronic myelogenous leukemia |
| A549 | Medium | Lung carcinoma |
| HepG2 | Medium | Hepatocellular carcinoma |
| MCF7 | Medium | Breast adenocarcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.118A>G (p.Lys40Glu) | Missense | Rare | May affect SUMO conjugation activity |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Potential impact on protein stability |
| c.341G>A (p.Arg114His) | Missense | Rare | Reported in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Complete loss of UBE2I is lethal; partial loss may impair SUMOylation, leading to genomic instability.
Gain of Function (GOF)
Overexpression or gain-of-function mutations may enhance SUMOylation of oncogenic targets, promoting tumorigenesis.
Dominant Negative (DN)
Mutant UBC9 that binds SUMO but cannot transfer it may act as dominant-negative, disrupting SUMOylation.
View complete mutation data：
Gene Ontology (GO)
| • SUMO transferase activity | • ubiquitin conjugating enzyme activity |
| • protein binding | • SUMO ligase activity |
| • nucleus | • cytoplasm |
| • SUMOylation | • protein modification process |
Pathways
• SUMOylation pathway
• Protein modification
• Cell cycle regulation
• DNA damage response
Protein Summary
UBC9 is a 158-amino acid protein with a catalytic domain that interacts with SUMO and E3 ligases. It is localized predominantly in the nucleus but also shuttles to the cytoplasm. UBC9 plays a central role in SUMO conjugation, modifying hundreds of substrates. Its activity is regulated by post-translational modifications and interactions with various partners.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2I Knockout HAP1 Cell Line | EDJ-KQ78121 | Human | 7329 | Details Get a Quote |
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