UBE2E1: Ubiquitin Conjugating Enzyme E2 E1
A key component of the ubiquitin-proteasome system involved in protein degradation and cellular signaling.
Gene Information Card
| Symbol | UBE2E1 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 E1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p24.2 |
| NCBI Gene ID | 7324 ncbi.nlm.nih.gov/gene/7324 |
| Ensembl ID | ENSG00000170027 |
| UniProt ID | P51965 |
| OMIM ID | 602916 |
| HGNC ID | 12478 |
| Aliases | UBCH6, UBCE1, UBCH6A, UBCH6B |
Description
UBE2E1 encodes a member of the ubiquitin-conjugating enzyme (E2) 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 substrate proteins. UBE2E1 is involved in protein turnover, cell cycle regulation, and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ubiquitin-proteasome pathway affecting tumor suppressor degradation | COSMIC mutation data; PubMed studies |
| Neurodegenerative disorders | Impaired protein clearance leading to aggregate accumulation | Inferred from pathway homology; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| HeLa | 19.8 | High expression |
| K562 | 15.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.482A>G (p.Gln161Arg) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • ATP binding (GO:0005524) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
UBE2E1 is a 193-amino acid protein (22 kDa) that functions as an E2 ubiquitin-conjugating enzyme. It contains a conserved ubiquitin-conjugating (UBC) domain and accepts ubiquitin from E1 enzymes. It interacts with multiple E3 ligases to target proteins for degradation or modification. Expression is ubiquitous with higher levels in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2E1 Knockout HEK293 Cell Line | EDJ-KQ16003 | Human | 7324 | Details Get a Quote |
| UBE2E1 Knockout HCT 116 Cell Line | EDJ-KQ45861 | Human | 7324 | Details Get a Quote |
| UBE2E1 Knockout A-549 Cell Line | EDJ-KQ47078 | Human | 7324 | Details Get a Quote |
| UBE2E1 Knockout HeLa Cell Line | EDJ-KQ47080 | Human | 7324 | Details Get a Quote |
