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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBXN1
UBX domain protein 1
Chromosome 11 · 11q12.3
NCBI Gene: 51035Ensembl: ENSG00000162191.14HGNC: HGNC:18402UniProt: A0A087WTZ5
103PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpolyubiquitin modification-dependent protein bindingubiquitin protein ligase bindingK48-linked polyubiquitin modification-dependent protein bindingneoplasmhepatocellular carcinomametabolic syndromeAdult-onset autosomal recessive sideroblastic anemia
✦AI Summary

UBXN1 (UBX domain protein 1) is a multifunctional ubiquitin-binding protein that serves as a VCP/p97 cofactor regulating diverse cellular processes. Structurally, UBXN1 contains UBA and UBX domains enabling binding to ubiquitinated substrates and the VCP-NPL4-UFD1 AAA-ATPase complex 1. Primary function centers on immune homeostasis and protein quality control. UBXN1 negatively regulates innate immunity by disrupting RIG-I-like receptor and NF-κB signaling pathways. It inhibits the MAVS/TRAF3/TRAF6 signalosome, preventing excessive RLR activation following viral infection. Additionally, UBXN1 suppresses TNFα-triggered NF-κB signaling through interactions with cIAPs and CUL1, thereby stabilizing NF-κB inhibitor IκBα. In mitochondrial homeostasis, UBXN1 coordinates with VCP to facilitate PINK1/PRKN-dependent mitophagy by promoting MFN2 removal from the outer mitochondrial membrane 1. UBXN1 also interacts with prohibitin to maintain mitochondrial integrity 2. Disease relevance is substantial: UBXN1 expression is upregulated in hepatocellular carcinoma and colorectal cancer, promoting tumor progression 23. Conversely, UBXN1 depletion enhances apoptosis resistance under hypoxia 4. In gastric cancer, METTL16-mediated m6A methylation regulates UBXN1 expression, linking epigenetic mechanisms to tumorigenesis 5. Clinically, UBXN1 represents a potential therapeutic target for cancers with elevated expression and a candidate marker for patient prognosis.

Sources cited
1
UBXN1 is a VCP/p97 cofactor that facilitates mitophagy by promoting MFN2 removal from mitochondria and enabling PRKN translocation
PMID: 33966597
2
UBXN1 is upregulated in hepatocellular carcinoma and interacts with prohibitin to promote mitochondrial homeostasis and liver tumorigenesis
PMID: 38773518
3
SUB1 activates NF-κB signaling by promoting UBR5-mediated ubiquitination and degradation of UBXN1 in colorectal cancer metastasis
PMID: 38240906
4
UBXN1 deficiency empowers apoptosis resistance under hypoxia through IκBα degradation and K63-linked ubiquitination of RIP1; miR-124-3p represses UBXN1 expression
PMID: 30844390
5
METTL16-mediated m6A methylation of UBXN1 mRNA and H3K36me3 modifications at the UBXN1 promoter regulate UBXN1 expression in gastric cancer
PMID: 40095756
6
UBXN1 is a specialized adaptor for p97/Cdc48 recruitment to mitochondrial substrates and participates in mitochondrial protein homeostasis
PMID: 41498289
Disease Associationsⓘ20
neoplasmOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
liver and intrahepatic bile duct neoplasmOpen Targets
0.04Suggestive
Neoplasm of the liverOpen Targets
0.04Suggestive
familial pseudohyperkalemiaOpen Targets
0.04Suggestive
Congenital intrinsic factor deficiencyOpen Targets
0.04Suggestive
hereditary intrinsic factor deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BAG6Protein interaction100%PLAAProtein interaction100%MAGED1Protein interaction100%UBXN4Protein interaction100%BRCA1Protein interaction100%TNFAIP1Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Lung
83%
Bone Marrow
70%
Brain
67%
Liver
49%
Heart
49%
Gene Interaction Network
Click a node to explore
UBXN1BAG6PLAAMAGED1UBXN4BRCA1TNFAIP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q04323
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.36–0.73]
RankingsWhere UBXN1 stands among ~20K protein-coding genes
  • #4,666of 20,598
    Most Researched103 · top quartile
  • #5,641of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedUBXN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Therapeutic targeting of the USP2-E2F4 axis inhibits autophagic machinery essential for zinc homeostasis in cancer progression.
PMID: 35253629
Autophagy · 2022
1.00
2
HYPK coordinates degradation of polyneddylated proteins by autophagy.
PMID: 34836490
Autophagy · 2022
0.90
3
SUB1 promotes colorectal cancer metastasis by activating NF-κB signaling via UBR5-mediated ubiquitination of UBXN1.
PMID: 38240906
Sci China Life Sci · 2024
0.80
4
UBXN1 promotes liver tumorigenesis by regulating mitochondrial homeostasis.
PMID: 38773518
J Transl Med · 2024
0.70
5
VCP/p97 cofactor UBXN1/SAKS1 regulates mitophagy by modulating MFN2 removal from mitochondria.
PMID: 33966597
Autophagy · 2022
0.60