UBE2G1: Ubiquitin Conjugating Enzyme E2 G1
A key component of the ubiquitin-proteasome system involved in protein degradation and cellular homeostasis
Gene Information Card
| Symbol | UBE2G1 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 G1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 7326 ncbi.nlm.nih.gov/gene/7326 |
| Ensembl ID | ENSG00000132388 |
| UniProt ID | P62253 |
| OMIM ID | 602962 |
| HGNC ID | 12480 |
| Aliases | UBC7, E2G1, UBE2G |
Description
UBE2G1 encodes a member of the ubiquitin-conjugating enzyme (E2) family. This enzyme catalyzes the second step in ubiquitination, accepting ubiquitin from an E1 activating enzyme and transferring it to a target protein via an E3 ligase. UBE2G1 is involved in endoplasmic reticulum-associated degradation (ERAD) and plays a role in protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered ubiquitination may affect tumor suppressor degradation | COSMIC mutation data |
| Neurodegenerative disorders | Impaired ERAD contributes to protein aggregation | Literature association |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Heart | 9.3 | Low |
| Kidney | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | High expression |
| HeLa | 14.2 | Medium expression |
| K562 | 11.0 | Medium expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential impact on ERAD efficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • endoplasmic reticulum (GO:0005783) | • cytosol (GO:0005829) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Endoplasmic reticulum-associated degradation (ERAD)
Protein Summary
UBE2G1 is a 170-amino acid protein (19.6 kDa) that functions as a ubiquitin-conjugating enzyme. It accepts ubiquitin from the E1 enzyme and transfers it to E3 ligases, facilitating substrate ubiquitination. It is essential for ERAD and cellular protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2G1 Knockout HEK293 Cell Line | EDJ-KQ3170 | Human | 7326 | Details Get a Quote |
| UBE2G1 Knockout A-549 Cell Line | EDJ-KQ24588 | Human | 7326 | Details Get a Quote |
| UBE2G1 Knockout HCT 116 Cell Line | EDJ-KQ24589 | Human | 7326 | Details Get a Quote |
| UBE2G1 Knockout HeLa Cell Line | EDJ-KQ24590 | Human | 7326 | Details Get a Quote |
