UBXN6 Gene - UBX Domain Protein 6
A comprehensive resource on UBXN6, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | UBXN6 |
|---|---|
| Full Name | UBX domain protein 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 80700 ncbi.nlm.nih.gov/gene/80700 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q9BZV1 |
| OMIM ID | 611341 |
| HGNC ID | 28956 |
| Aliases | UBXDC1, UBX domain-containing protein 1, FLJ20637 |
Description
UBXN6 (UBX domain protein 6) is a protein-coding gene located on chromosome 19p13.3. It encodes a member of the UBX domain-containing protein family, which is involved in ubiquitin-mediated proteolysis and endoplasmic reticulum-associated degradation (ERAD). UBXN6 interacts with p97/VCP and other cofactors to facilitate protein quality control and degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | UBXN6 overexpression may promote tumor growth via p97 interaction; limited evidence from cell line studies. | PMID: 25605274 |
| Neurodegenerative disorders (e.g., ALS) | UBXN6 variants may affect ERAD pathway; indirect evidence from p97-related pathology. | PMID: 30120210 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Moderate expression |
| HEK293 | 9.8 | Moderate expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497C>T (p.Thr166Met) | Missense | <0.01% | Unknown; reported in COSMIC as somatic variant |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Unknown; rare germline variant in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin protein ligase binding |
| • endoplasmic reticulum | • cytosol |
| • protein ubiquitination | • ERAD pathway |
Pathways
• p97/VCP-mediated degradation
• Endoplasmic reticulum-associated degradation (ERAD)
Protein Summary
UBXN6 is a 441-amino acid protein containing a UBX domain that mediates interaction with p97/VCP. It functions as a cofactor in the ERAD pathway, facilitating the extraction and degradation of misfolded proteins from the endoplasmic reticulum. The protein is localized to the cytosol and endoplasmic reticulum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBXN6 Knockout HEK293 Cell Line | EDJ-KQ2679 | Human | 80700 | Details Get a Quote |
| UBXN6 Knockout A-549 Cell Line | EDJ-KQ23475 | Human | 80700 | Details Get a Quote |
| UBXN6 Knockout HCT 116 Cell Line | EDJ-KQ23476 | Human | 80700 | Details Get a Quote |
| UBXN6 Knockout HeLa Cell Line | EDJ-KQ23477 | Human | 80700 | Details Get a Quote |
