UBXN8: UBX Domain Protein 8
A component of the ubiquitin-proteasome system involved in endoplasmic reticulum-associated degradation (ERAD).
Gene Information Card
| Symbol | UBXN8 |
|---|---|
| Full Name | UBX domain protein 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 7993 ncbi.nlm.nih.gov/gene/7993 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q96K76 |
| OMIM ID | 611167 |
| HGNC ID | 17891 |
| Aliases | UBX8, REP8, D8S2298E, FLJ10156 |
Description
UBXN8 encodes a member of the UBX domain-containing protein family. The protein localizes to the endoplasmic reticulum (ER) and functions as a cofactor in the p97/VCP-dependent ER-associated degradation (ERAD) pathway, facilitating the extraction of misfolded proteins from the ER for proteasomal degradation. UBXN8 interacts with VCP/p97 and ubiquitin ligases to regulate protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | UBXN8 overexpression may alter ERAD flux, affecting tumor cell survival under ER stress. | COSMIC; limited direct evidence |
| Neurodegenerative disorders (potential) | Impaired ERAD due to UBXN8 dysfunction could contribute to protein aggregation. | Inferred from pathway; no direct ClinVar entries |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Brain | 6.4 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HepG2 | 11.7 | Medium expression |
| K562 | 8.9 | Medium expression |
| HeLa | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.1012G>A (p.Gly338Ser) | Missense | <0.01% | Unknown; predicted benign |
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)
| • protein binding (GO:0005515) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • ubiquitin protein ligase binding (GO:0031625) |
| • identical protein binding (GO:0042802) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• VCP/p97-mediated protein degradation
Protein Summary
UBXN8 is a 441-amino acid protein containing a UBX domain that mediates interaction with the AAA-ATPase VCP/p97. It acts as an adaptor to recruit p97 to the ER membrane during ERAD, facilitating retrotranslocation of misfolded proteins. The protein is widely expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBXN8 Knockout HEK293 Cell Line | EDJ-KQ6154 | Human | 7993 | Details Get a Quote |
| UBXN8 Knockout A-549 Cell Line | EDJ-KQ29962 | Human | 7993 | Details Get a Quote |
| UBXN8 Knockout HCT 116 Cell Line | EDJ-KQ29963 | Human | 7993 | Details Get a Quote |
| UBXN8 Knockout HeLa Cell Line | EDJ-KQ28653 | Human | 7993 | Details Get a Quote |
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