UBXN1 Gene
UBX Domain Protein 1: A Key Regulator of Protein Degradation and Immune Signaling
Gene Information Card
| Symbol | UBXN1 |
|---|---|
| Full Name | UBX Domain Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 51035 ncbi.nlm.nih.gov/gene/51035 |
| Ensembl ID | ENSG00000149273 |
| UniProt ID | Q04323 |
| OMIM ID | 611577 |
| HGNC ID | 30609 |
| Aliases | SAKS1, UBXD10, UBX domain-containing protein 1 |
Description
UBXN1 (UBX Domain Protein 1) encodes a protein containing a UBX domain, which mediates interactions with the AAA ATPase p97/VCP. UBXN1 functions as an adaptor that recruits p97 to specific substrates, facilitating ubiquitin-dependent protein degradation. It also plays a critical role in regulating innate immune signaling by inhibiting RIG-I and NF-kappaB pathways, thereby modulating antiviral responses and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Viral Infections (e.g., Influenza A, Sendai virus) | UBXN1 negatively regulates RIG-I-mediated antiviral signaling by promoting the degradation of MAVS and TRAF3, suppressing interferon production. | PMID: 20018868; NCBI Gene |
| Inflammatory Diseases | UBXN1 inhibits NF-kappaB activation by interacting with IKK complex components, reducing pro-inflammatory cytokine expression. | PMID: 23543752; NCBI Gene |
| Cancer (potential) | Dysregulation of UBXN1 expression may alter p97-mediated protein homeostasis and immune evasion, though direct oncogenic mutations are not well characterized. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain (cerebellum) | 15.2 | Medium |
| Heart | 18.9 | Medium |
| Kidney | 20.1 | High |
| Liver | 22.3 | High |
| Lung | 14.7 | Medium |
| Skeletal muscle | 8.4 | Low |
| Testis | 25.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 (embryonic kidney) | 18.5 | Ubiquitous expression |
| HeLa (cervical carcinoma) | 16.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 21.0 | High expression |
| A549 (lung carcinoma) | 14.1 | Moderate expression |
| K562 (leukemia) | 9.8 | Low 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% | Potential loss of start codon; effect unknown |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Located in UBX domain; may affect p97 binding |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in UBXN1 are predicted to impair p97-mediated degradation and enhance RIG-I/NF-kappaB signaling, potentially increasing antiviral responses but also risk of inflammatory damage.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Mutations in the UBX domain (e.g., p.Arg109Trp) may act as dominant-negative by competing with wild-type UBXN1 for p97 binding without proper substrate recruitment.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • ubiquitin-dependent ERAD pathway (GO:0030433) |
| • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) | • innate immune response (GO:0045087) |
| • ubiquitin protein ligase activity (GO:0061630) |
Pathways
• p97/VCP-mediated protein degradation (Reactome: R-HSA-983168)
• RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways (Reactome: R-HSA-168928)
• NF-kappaB signaling pathway (KEGG: hsa04064)
Protein Summary
UBXN1 is a 441-amino acid protein containing an N-terminal UBX domain that binds to the N-domain of p97/VCP. It acts as a cofactor targeting p97 to ubiquitinated substrates for degradation via the ubiquitin-proteasome system. Additionally, UBXN1 suppresses antiviral signaling by interacting with MAVS and TRAF3, promoting their degradation and limiting RIG-I-mediated interferon production. It also inhibits NF-kappaB activation by binding to IKKgamma/NEMO. UBXN1 is widely expressed in human tissues, with highest levels in testis, liver, and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBXN10 Knockout HEK293 Cell Line | EDJ-KQ9138 | Human | 127733 | Details Get a Quote |
| UBXN1 Knockout HEK293 Cell Line | EDJ-KQ10880 | Human | 51035 | Details Get a Quote |
| UBXN11 Knockout HEK293 Cell Line | EDJ-KQ16017 | Human | 91544 | Details Get a Quote |
| UBXN11 Knockout A-549 Cell Line | EDJ-KQ47110 | Human | 91544 | Details Get a Quote |
| UBXN11 Knockout HCT 116 Cell Line | EDJ-KQ47111 | Human | 91544 | Details Get a Quote |
| UBXN11 Knockout HeLa Cell Line | EDJ-KQ47112 | Human | 91544 | Details Get a Quote |
| UBXN1 Knockout A-549 Cell Line | EDJ-KQ38564 | Human | 51035 | Details Get a Quote |
| UBXN1 Knockout HCT 116 Cell Line | EDJ-KQ38565 | Human | 51035 | Details Get a Quote |
| UBXN1 Knockout HeLa Cell Line | EDJ-KQ38566 | Human | 51035 | Details Get a Quote |
| UBXN10 Knockout HeLa Cell Line | EDJ-KQ58218 | Human | 127733 | Details Get a Quote |
| UBXN10 Knockout A-549 Cell Line | EDJ-KQ66708 | Human | 127733 | Details Get a Quote |
| UBXN10 Knockout HCT 116 Cell Line | EDJ-KQ75120 | Human | 127733 | Details Get a Quote |
