UBXN7 Gene - UBX Domain Protein 7
A key regulator of ubiquitin-mediated proteolysis and cellular stress responses
Gene Information Card
| Symbol | UBXN7 |
|---|---|
| Full Name | UBX domain protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 26043 ncbi.nlm.nih.gov/gene/26043 |
| Ensembl ID | ENSG00000163930 |
| UniProt ID | Q948T7 |
| OMIM ID | 611574 |
| HGNC ID | 29119 |
| Aliases | UBXD7, UBX domain-containing protein 7, SOC (suppressor of cytokine signaling) box protein |
Description
UBXN7 encodes a member of the UBX domain-containing protein family. The protein acts as an adaptor that links the ubiquitin-proteasome system to various cellular processes, including protein degradation, cell cycle control, and stress responses. It interacts with the p97/VCP ATPase complex and facilitates the recognition of ubiquitinated substrates.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | UBXN7 overexpression may promote tumor growth by modulating proteasomal degradation of oncoproteins. | NCBI Gene, COSMIC |
| Neurodegenerative disorders | Altered UBXN7 expression affects p97-mediated clearance of misfolded proteins. | UniProt, OMIM |
| Developmental delay | Rare variants in UBXN7 have been associated with intellectual disability. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression in embryonic kidney cells |
| HeLa | 14.2 | Moderate expression in cervical cancer cells |
| K562 | 9.8 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Alters UBX domain structure, reducing p97 binding |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Impairs substrate recognition |
| c.1876_1878del (p.Lys626del) | In-frame deletion | <0.01% | Disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the UBX domain reduce interaction with p97/VCP, impairing ubiquitin-dependent degradation.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer a growth advantage.
Dominant Negative (DN)
Truncating mutations may interfere with wild-type UBXN7 function in substrate delivery.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-dependent protein catabolic process | • protein binding |
| • ubiquitin binding | • ATPase activator activity |
| • cytosol | • nucleus |
Pathways
• VCP/p97-mediated degradation
• Ubiquitin-proteasome system
• Endoplasmic reticulum-associated degradation (ERAD)
Protein Summary
UBXN7 is a 626-amino acid protein containing an N-terminal UBX domain that mediates binding to p97/VCP, and a C-terminal SOCS box that recruits the ubiquitin ligase machinery. It functions as a cofactor in the extraction and degradation of ubiquitinated proteins from cellular complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBXN7 Knockout HEK293 Cell Line | EDJ-KQ8365 | Human | 26043 | Details Get a Quote |
| UBXN7 Knockout A-549 Cell Line | EDJ-KQ34407 | Human | 26043 | Details Get a Quote |
| UBXN7 Knockout HCT 116 Cell Line | EDJ-KQ34408 | Human | 26043 | Details Get a Quote |
| UBXN7 Knockout HeLa Cell Line | EDJ-KQ34409 | Human | 26043 | Details Get a Quote |
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