HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UBOX5
U-box domain containing 5
Chromosome 20 · 20p13
NCBI Gene: 22888Ensembl: ENSG00000185019.18HGNC: HGNC:17777UniProt: O94941
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin protein ligase bindingnuclear bodyprotein bindingnucleusneurodegenerative diseaseLeigh syndromeovarian neoplasmpolycystic ovary syndrome
✦AI Summary

UBOX5 encodes a U-box domain-containing ubiquitin ligase that functions as an E3 ubiquitin-protein ligase, catalyzing polyubiquitination of target proteins 1. The U-box domain enables interaction with ubiquitin-conjugating enzymes (E2s) through a conserved structural motif 2, facilitating substrate ubiquitination and proteasomal degradation. Recent evidence identifies Binding Immunoglobulin Protein (BIP) as a key physiological substrate of UBOX5 3. Clinically, UBOX5 variants show strong association with primary angle-closure glaucoma (PACG), with carriers of rare protein-altering variants demonstrating 2.13-fold increased disease risk 3. Functionally deficient UBOX5 variants are significantly enriched in affected individuals, implicating impaired UBOX5-BIP signaling in glaucoma pathogenesis. Additionally, UBOX5 emerges as a hub gene in atherosclerosis pathogenesis, identified through differential expression analysis in atherosclerotic monocytes 4, suggesting roles in cardiovascular disease. Beyond the protein-coding gene, the antisense lncRNA UBOX5-AS1 demonstrates dysregulation in endometriosis, where ALKBH5-mediated m6A demethylation increases its expression, promoting autophagy, proliferation, and invasion 5. Under hypoxic conditions, HIF-1α signaling upregulates UBOX5-AS1, driving epithelial-mesenchymal transition in endometrial cells 6. These findings position UBOX5 and its regulatory elements as potential therapeutic targets for multiple diseases.

Sources cited
1
UBOX5 protein-altering variants confer 2.13-fold increased risk of primary angle-closure glaucoma; ubiquitinates BIP substrate; functionally deficient variants enriched in affected individuals
PMID: 40817263
2
U-box proteins function as ubiquitin ligases catalyzing polyubiquitin chain addition and proteasomal degradation
PMID: 11805346
3
U-box domain forms physical basis for interaction with ubiquitin-conjugating enzymes, structurally similar to RING finger motif
PMID: 11274149
4
UBOX5 identified as hub gene differentially expressed in atherosclerotic monocytes; proposed as biomarker for atherosclerosis pathogenesis
PMID: 32314637
5
lncRNA UBOX5-AS1 regulated by ALKBH5-mediated m6A demethylation; promotes autophagy, proliferation, and invasion in endometriosis
PMID: 39761976
6
HIF-1α signaling upregulates UBOX5-AS1 expression under hypoxia; promotes epithelial-mesenchymal transition and invasiveness in endometriosis
PMID: 34268403
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
Leigh syndromeOpen Targets
0.49Moderate
ovarian neoplasmOpen Targets
0.28Weak
polycystic ovary syndromeOpen Targets
0.04Suggestive
Sensorineural hearing impairmentOpen Targets
0.04Suggestive
Parkinson diseaseOpen Targets
0.04Suggestive
endometriosisOpen Targets
0.04Suggestive
hearing lossOpen Targets
0.04Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.03Suggestive
Blackfan-Diamond anemiaOpen Targets
0.03Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
Ovarian EndometriosisOpen Targets
0.03Suggestive
primary angle closure glaucomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
atherosclerosisOpen Targets
0.00Suggestive
cardiac hypertrophyOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MKRN3Shared pathway100%DZIP3Shared pathway100%ZSWIM2Shared pathway100%ZNF738Shared pathway100%HECTD2Shared pathway100%UBE2QL1Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Ovary
84%
Lung
79%
Heart
60%
Liver
55%
Bone Marrow
55%
Gene Interaction Network
Click a node to explore
UBOX5MKRN3DZIP3ZSWIM2ZNF738HECTD2UBE2QL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O94941
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.51–0.94]
RankingsWhere UBOX5 stands among ~20K protein-coding genes
  • #12,911of 20,598
    Most Researched26
  • #8,760of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedUBOX5
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Identification of potential crucial genes in monocytes for atherosclerosis using bioinformatics analysis.
PMID: 32314637
J Int Med Res · 2020
1.00
2
ALKBH5 promotes autophagy and progression by mediating m6A methylation of lncRNA UBOX5-AS1 in endometriosis.
PMID: 39761976
Am J Physiol Cell Physiol · 2025
0.86
3
Functionally deficient UBOX5 variants and primary angle-closure glaucoma.
PMID: 40817263
Nat Commun · 2025
0.71
4
A new gun in town: the U box is a ubiquitin ligase domain.
PMID: 11805346
Sci STKE · 2002
0.57
5
Ancient origin of animal U-box ubiquitin ligases.
PMID: 20979629
BMC Evol Biol · 2010
0.43