UBE2J1: Ubiquitin Conjugating Enzyme E2 J1
A key component of the ubiquitin-proteasome system involved in protein degradation and endoplasmic reticulum-associated degradation (ERAD).
Gene Information Card
| Symbol | UBE2J1 |
|---|---|
| Full Name | Ubiquitin Conjugating Enzyme E2 J1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q15 |
| NCBI Gene ID | 51465 ncbi.nlm.nih.gov/gene/51465 |
| Ensembl ID | ENSG00000112294 |
| UniProt ID | Q9Y385 |
| OMIM ID | 602995 |
| HGNC ID | 12481 |
| Aliases | CGI-76, HSPC153, HSPC205, NCUBE-1, UBC6, UBC6E, UBE2J1 |
Description
UBE2J1 encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is involved in the ubiquitination of proteins targeted for proteasomal degradation, particularly in the endoplasmic reticulum-associated degradation (ERAD) pathway. It accepts ubiquitin from the E1 complex and transfers it to substrate proteins via E3 ligases. UBE2J1 is localized to the endoplasmic reticulum membrane and plays a role in quality control of misfolded proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia (HSP) | Mutations in UBE2J1 impair ERAD, leading to accumulation of misfolded proteins and neuronal degeneration. | OMIM #602995; ClinVar |
| Cancer (various) | Altered expression of UBE2J1 may affect protein homeostasis and tumor progression. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Liver | 12.1 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 11.5 | High expression |
| HeLa | 9.2 | Medium expression |
| K562 | 7.8 | Medium expression |
| HepG2 | 10.1 | 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% | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Impaired ERAD function, associated with HSP |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Pro67Leu lead to reduced ubiquitin-conjugating activity and impaired ERAD.
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-protein transferase activity (GO:0004842) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • ubiquitin conjugating enzyme activity (GO:0061630) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Endoplasmic reticulum-associated degradation (ERAD) (Reactome: R-HSA-9013423)
Protein Summary
UBE2J1 is a 284-amino acid protein with a molecular weight of approximately 32 kDa. It contains a conserved ubiquitin-conjugating (UBC) domain and a C-terminal transmembrane domain that anchors it to the endoplasmic reticulum membrane. The protein functions as an E2 enzyme in the ubiquitination cascade, specifically in ERAD, where it works with E3 ligases to ubiquitinate misfolded proteins for proteasomal degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBE2J1 Knockout HEK293 Cell Line | EDJ-KQ2112 | Human | 51465 | Details Get a Quote |
| UBE2J1 Knockout A-549 Cell Line | EDJ-KQ22239 | Human | 51465 | Details Get a Quote |
| UBE2J1 Knockout HCT 116 Cell Line | EDJ-KQ22240 | Human | 51465 | Details Get a Quote |
| UBE2J1 Knockout HeLa Cell Line | EDJ-KQ22241 | Human | 51465 | Details Get a Quote |
