UBE2K
Ubiquitin Conjugating Enzyme E2 K
Gene Information Card
| Symbol | UBE2K |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 K |
| Gene Type | Protein coding |
| Chromosomal Location | 4p14 |
| NCBI Gene ID | 3093 ncbi.nlm.nih.gov/gene/3093 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | P61086 |
| OMIM ID | 602916 |
| HGNC ID | 12479 |
| Aliases | UBC1, HIP2, E2-25K, LIG, UBCE2K |
Description
UBE2K encodes a member of the ubiquitin-conjugating enzyme (E2) family. The encoded protein catalyzes the covalent attachment of ubiquitin to target proteins, playing a key role in ubiquitin-dependent proteasomal degradation, DNA repair, and signal transduction. UBE2K is also involved in the formation of unanchored polyubiquitin chains and has been implicated in neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | UBE2K interacts with huntingtin and modulates polyubiquitination; altered E2 activity may contribute to protein aggregation | PMID: 10570185 |
| Spinocerebellar ataxia type 3 (Machado-Joseph disease) | UBE2K binds ataxin-3 and influences ubiquitin chain assembly; dysregulation linked to pathogenesis | PMID: 12684507 |
| Breast cancer | UBE2K overexpression correlates with poor prognosis; promotes cell proliferation via ubiquitination of tumor suppressors | PMID: 25609832 |
| Prostate cancer | UBE2K upregulation associated with androgen receptor signaling and therapy resistance | PMID: 29353806 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 18.5 | High |
| Heart | 12.3 | Medium |
| Liver | 15.7 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.1 | High expression |
| HeLa | 17.8 | High expression |
| MCF7 | 15.3 | Medium expression |
| HepG2 | 13.9 | Medium expression |
| K562 | 11.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Reduced ubiquitin-conjugating activity in vitro |
| c.367G>A (p.Glu123Lys) | Missense | <0.01% | Altered substrate specificity; reported in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the active site cysteine or start codon reduce or abolish ubiquitin-conjugating activity.
Gain of Function (GOF)
Not well documented; overexpression in tumors may confer gain-of-function through enhanced ubiquitination of oncogenic substrates.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin conjugating enzyme activity | • ubiquitin protein ligase binding |
| • protein ubiquitination | • proteasome-mediated ubiquitin-dependent protein catabolic process |
| • DNA repair | • nucleus |
| • cytoplasm |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• p53 signaling pathway (KEGG: hsa04115)
Protein Summary
UBE2K (E2-25K) is a 200-amino acid ubiquitin-conjugating enzyme with a conserved catalytic cysteine (Cys92). It transfers ubiquitin from E1 to target proteins or E3 ligases, and can also synthesize free polyubiquitin chains. The protein contains a UBC domain and a C-terminal ubiquitin-associated (UBA) domain that binds ubiquitin. UBE2K is widely expressed, with highest levels in brain and testis. It interacts with huntingtin and ataxin-3, linking it to polyglutamine disorders. Overexpression in several cancers suggests a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2K Knockout HEK293 Cell Line | EDJ-KQ4877 | Human | 3093 | Details Get a Quote |
| UBE2K Knockout A-549 Cell Line | EDJ-KQ27668 | Human | 3093 | Details Get a Quote |
| UBE2K Knockout HCT 116 Cell Line | EDJ-KQ27669 | Human | 3093 | Details Get a Quote |
| UBE2K Knockout HeLa Cell Line | EDJ-KQ27670 | Human | 3093 | Details Get a Quote |
