UBE2D1 Gene - Ubiquitin Conjugating Enzyme E2 D1
Essential component of the ubiquitin-proteasome system involved in protein degradation and cellular signaling
Gene Information Card
| Symbol | UBE2D1 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.1 |
| NCBI Gene ID | 7321 ncbi.nlm.nih.gov/gene/7321 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | P51668 |
| OMIM ID | 602961 |
| HGNC ID | 12473 |
| Aliases | E2(17)KB1, UBC4, UBCH5, UBCH5A |
Description
UBE2D1 encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme catalyzes the second step in ubiquitin conjugation, accepting ubiquitin from the E1 complex and transferring it to target proteins via E3 ligases. UBE2D1 is involved in diverse cellular processes including cell cycle control, DNA repair, and signal transduction. It is broadly expressed in many tissues and is implicated in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | UBE2D1 overexpression may promote degradation of tumor suppressors like p53 | PMID: 19029980 |
| Prostate cancer | Altered expression linked to androgen receptor signaling | PMID: 21516111 |
| Neurodegenerative disorders | Involved in ubiquitination of proteins associated with Alzheimer's and Parkinson's disease | PMID: 16959974 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 15.8 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 18.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | Embryonic kidney |
| HeLa | 16.2 | Cervical cancer |
| MCF7 | 13.8 | Breast cancer |
| A549 | 12.1 | Lung cancer |
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 |
| c.200G>A | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
Overexpression in certain cancers may act as a gain-of-function by enhancing degradation of tumor suppressors.
Dominant Negative (DN)
Not described for UBE2D1.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity | • protein ubiquitination |
| • ubiquitin-dependent protein catabolic process | • cell cycle |
| • DNA repair |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115)
• Parkinson disease (KEGG: hsa05012)
Protein Summary
UBE2D1 is a 147-amino acid protein (17 kDa) that belongs to the ubiquitin-conjugating enzyme E2 family. It contains a conserved UBC domain responsible for ubiquitin thioester formation. The protein interacts with multiple E3 ligases and is essential for ubiquitin chain elongation. It is highly conserved across species and plays a key role in maintaining protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2D1 Knockout HEK293 Cell Line | EDJ-KQ3147 | Human | 7321 | Details Get a Quote |
| UBE2D1 Knockout A-549 Cell Line | EDJ-KQ24541 | Human | 7321 | Details Get a Quote |
| UBE2D1 Knockout HCT 116 Cell Line | EDJ-KQ24542 | Human | 7321 | Details Get a Quote |
| UBE2D1 Knockout HeLa Cell Line | EDJ-KQ24543 | Human | 7321 | Details Get a Quote |
| UBE2D1 Knockout HAP1 Cell Line | EDC08053 | Human | 7321 | Details Get a Quote |
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