UBE2U
Ubiquitin Conjugating Enzyme E2 U
Gene Information Card
| Symbol | UBE2U |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 U |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 148581 ncbi.nlm.nih.gov/gene/148581 |
| Ensembl ID | ENSG00000177150 |
| UniProt ID | Q5T4S7 |
| OMIM ID | 616436 |
| HGNC ID | 28333 |
| Aliases | MGC35130, UBC6, E2-U |
Description
UBE2U (Ubiquitin Conjugating Enzyme E2 U) is a protein-coding gene that encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein catalyzes the second step of ubiquitination, transferring ubiquitin from an E1 enzyme to a substrate-specific E3 ligase. UBE2U is involved in protein degradation, cell cycle regulation, and DNA repair pathways. It is expressed in multiple tissues and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered ubiquitination of tumor suppressors; potential role in DNA repair | COSMIC; ClinVar |
| Colorectal cancer | Dysregulation of protein degradation pathways | COSMIC |
| Neurodevelopmental disorders | Mutations affecting ubiquitin conjugation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.7 | Moderate expression |
| HeLa | 7.4 | Low expression |
| MCF7 | 6.1 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown functional effect |
| c.421C>T (p.Arg141Trp) | Missense | <0.01% | Potential loss of function |
| c.544_545insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing ubiquitin conjugation activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin conjugating enzyme activity | • Protein ubiquitination |
| • Ubiquitin-dependent protein catabolic process | • DNA repair |
| • Cell cycle |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBE2U is a 273-amino acid protein with a conserved ubiquitin-conjugating (UBC) domain. It functions as an E2 ubiquitin-conjugating enzyme, accepting ubiquitin from E1 enzymes and transferring it to E3 ligases. The protein is localized to the cytoplasm and nucleus, and its activity is essential for targeted protein degradation and cellular homeostasis. Structural studies indicate a canonical E2 fold with an active site cysteine (Cys88) required for ubiquitin thioester formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2U Knockout HEK293 Cell Line | EDJ-KQ10798 | Human | 148581 | Details Get a Quote |
| UBE2U Knockout HeLa Cell Line | EDJ-KQ58612 | Human | 148581 | Details Get a Quote |
| UBE2U Knockout A-549 Cell Line | EDJ-KQ67092 | Human | 148581 | Details Get a Quote |
| UBE2U Knockout HCT 116 Cell Line | EDJ-KQ75502 | Human | 148581 | Details Get a Quote |
