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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBQLN4
ubiquilin 4
Chromosome 1 · 1q22
NCBI Gene: 56893Ensembl: ENSG00000160803.9HGNC: HGNC:1237UniProt: B4DZF6
73PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nuclear proteasome complexcytosolic proteasome complexprotein bindingpolyubiquitin modification-dependent protein bindingamyotrophic lateral sclerosisneurodegenerative diseasefrozen shoulderParkinson disease
✦AI Summary

UBQLN4 is a proteasomal shuttle factor that regulates protein degradation through its ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains, binding polyubiquitin chains and delivering substrates to the 26S proteasome 1. A key function is repressing homologous recombination (HR) repair: following ATM phosphorylation at DNA damage sites, UBQLN4 binds and removes ubiquitinated MRE11 from chr1, promoting its proteasomal degradation and redirecting double-strand break repair toward non-homologous end joining 1. UBQLN4 also stabilizes anti-apoptotic proteins BCL2A1 and BCL2L10 in response to DNA damage 2, and regulates p21 stability through interaction with E3 ligase RNF114, inducing cell cycle arrest via p53-dependent and independent mechanisms 3. Additionally, UBQLN4 facilitates nuclear-to-cytoplasmic export of ubiquitinated proteins and assists autophagy-mediated protein aggregate clearance 4. Disease relevance is substantial: UBQLN4 is genomically amplified across multiple cancer types, correlating with poor prognosis in 20 of 32 cancers 5. Overexpression promotes proliferation and invasion in lung cancer via PI3K/AKT pathway activation 6, while UBQLN4 amplification confers PARP inhibitor sensitivity through HR deficiency 15. UBQLN4 mutations associate with genome instability syndromes 1. Conversely, UBQLN4 downregulation in gastric cancer suggests context-dependent tumor suppressor roles 3.

Sources cited
1
UBQLN4 is a proteasomal shuttle factor that regulates protein degradation through its ubiquitin-like (UBL) and ubiquitin-associated (UBA) domains, binding polyubiquitin chains and delivering substrates to the 26S proteasome .
PMID: 30612738
2
UBQLN4 also stabilizes anti-apoptotic proteins BCL2A1 and BCL2L10 in response to DNA damage , and regulates p21 stability through interaction with E3 ligase RNF114, inducing cell cycle arrest via p53-dependent and independent mechanisms .
PMID: 34245648
3
UBQLN4 also stabilizes anti-apoptotic proteins BCL2A1 and BCL2L10 in response to DNA damage , and regulates p21 stability through interaction with E3 ligase RNF114, inducing cell cycle arrest via p53-dependent and independent mechanisms .
PMID: 29899380
4
Additionally, UBQLN4 facilitates nuclear-to-cytoplasmic export of ubiquitinated proteins and assists autophagy-mediated protein aggregate clearance .
PMID: 34836490
5
Disease relevance is substantial: UBQLN4 is genomically amplified across multiple cancer types, correlating with poor prognosis in 20 of 32 cancers .
PMID: 36291176
6
Overexpression promotes proliferation and invasion in lung cancer via PI3K/AKT pathway activation , while UBQLN4 amplification confers PARP inhibitor sensitivity through HR deficiency , .
PMID: 38969831
Disease Associationsⓘ21
amyotrophic lateral sclerosisOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.30Weak
frozen shoulderOpen Targets
0.20Weak
Parkinson diseaseOpen Targets
0.13Weak
Abnormality of the skeletal systemOpen Targets
0.11Weak
cancerOpen Targets
0.10Suggestive
Lewy body dementiaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
deep vein thrombosisOpen Targets
0.08Suggestive
allergic rhinitisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
mesotheliomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
risk-taking behaviourOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
atrial flutterOpen Targets
0.04Suggestive
Amyotrophic lateral sclerosisUniProt
Pathogenic Variants1
NM_020131.5(UBQLN4):c.976C>T (p.Arg326Ter)Pathogenic
not provided
★☆☆☆→ Residue 326
View on ClinVar ↗
Related Genes
PSMD2Protein interaction100%RAD23AProtein interaction100%PSMA1Protein interaction100%PSMA3Protein interaction100%PSMA4Protein interaction100%PSMA5Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
73%
Lung
51%
Ovary
49%
Heart
38%
Bone Marrow
21%
Gene Interaction Network
Click a node to explore
UBQLN4PSMD2RAD23APSMA1PSMA3PSMA4PSMA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q59F94
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.11–0.31]
RankingsWhere UBQLN4 stands among ~20K protein-coding genes
  • #6,522of 20,598
    Most Researched73
  • #4,988of 5,498
    Most Pathogenic Variants1
  • #1,247of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedUBQLN4
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
HYPK coordinates degradation of polyneddylated proteins by autophagy.
PMID: 34836490
Autophagy · 2022
1.00
2
Overexpression of the Ubiquilin-4 (UBQLN4) is Associated with Cell Cycle Arrest and Apoptosis in Human Normal Gastric Epithelial Cell Lines GES-1 Cells by Activation of the ERK Signaling Pathway.
PMID: 29807370
Med Sci Monit · 2018
0.90
3
Genomic Amplification of
PMID: 36291176
Cells · 2022
0.80
4
UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors.
PMID: 30612738
Cell · 2019
0.70
5
LncDARS-AS1 Regulates ATP1A1 Stability and Enhances Na
PMID: 40665639
Adv Sci (Weinh) · 2025
0.60