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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UBA6
ubiquitin like modifier activating enzyme 6
Chromosome 4 · 4q13.2
NCBI Gene: 55236Ensembl: ENSG00000033178.14HGNC: HGNC:25581UniProt: A0AVT1
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolcytoplasmnucleoplasmFAT10 activating enzyme activityneurodegenerative diseasedengue diseasemajor salivary gland cancertongue cancer
✦AI Summary

UBA6 is an E1 ubiquitin-activating enzyme that initiates ubiquitin conjugation by adenylating ubiquitin's C-terminal glycine and forming a thioester bond with a catalytic cysteine 12. Uniquely among E1 enzymes, UBA6 also activates the ubiquitin-like protein FAT10 through the same mechanism 31. Crystal structures reveal UBA6 undergoes conformational transitions between open (adenylation-competent) and closed (thioester-forming) states, with allosteric regulation by inositol hexakisphosphate 2. UBA6 partners with the dedicated E2 enzyme USE1, distinct from canonical cell cycle E2s 4. In cancer biology, UBA6 is essential for survival of aneuploid epithelial tumors through a complex with BIRC6, KCMF1, and UBR4 that suppresses the integrated stress response 56. Inosine-mediated UBA6 inhibition sensitizes tumors to immune checkpoint blockade by enhancing T cell-mediated cytotoxicity 7. UBA6 also regulates cardiac sodium channel Nav1.5 ubiquitination; elevated UBA6 expression associates with heart failure 8. Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination and E6AP degradation, affecting neuronal survival 9. These findings establish UBA6 as a targetable hub for cancer immunotherapy and a potential therapeutic intervention point in polyalanine expansion diseases.

Sources cited
1
UBA6 activates ubiquitin and FAT10 by adenylation and thioester bond formation
PMID: 35970836
2
Crystal structures of UBA6/ubiquitin complex reveal open and closed conformations and allosteric regulation by inositol hexakisphosphate
PMID: 35986001
3
UBA6 activates FAT10 conjugation via adenylation of C-terminal glycine
PMID: 17889673
4
UBA6 has dedicated E2 enzyme USE1 and bispecific pathways for ubiquitin and FAT10
PMID: 31067743
5
UBA6 complex with BIRC6, KCMF1, and UBR4 is required for aneuploid epithelial tumor survival and regulates integrated stress response
PMID: 36576405
6
UBA6-containing complex suppresses HRI component of integrated stress response in aneuploid epithelial tumors
PMID: 36855916
7
Inosine inhibits UBA6 in tumor cells, enhancing immunogenicity and immune checkpoint blockade sensitivity
PMID: 36109526
8
UBA6 and UBE1 regulate cardiac Nav1.5 ubiquitination; UBA6 expression elevated in heart failure
PMID: 32315024
9
Polyalanine expansion mutations impair UBA6-USE1 interaction and affect E6AP ubiquitination-dependent degradation in neurons
PMID: 38177505
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
dengue diseaseOpen Targets
0.37Weak
major salivary gland cancerOpen Targets
0.27Weak
tongue cancerOpen Targets
0.25Weak
autism spectrum disorderOpen Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
intelligenceOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.03Suggestive
head and neck squamous cell carcinomaOpen Targets
0.03Suggestive
crystal arthropathyOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
chondrocalcinosisOpen Targets
0.03Suggestive
morbid obesityOpen Targets
0.02Suggestive
hypothyroidismOpen Targets
0.02Suggestive
MyoclonusOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBCProtein interaction100%UBE2ZProtein interaction100%UBE2D3Protein interaction99%UBE2E2Protein interaction99%UBE2G1Protein interaction99%UBE2L6Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
55%
Ovary
55%
Lung
54%
Brain
48%
Heart
41%
Gene Interaction Network
Click a node to explore
UBA6UBCUBE2ZUBE2D3UBE2E2UBE2G1UBE2L6
PROTEIN STRUCTURE
Preparing viewer…
PDB7SOL · 2.25 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.87LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.51–0.87]
RankingsWhere UBA6 stands among ~20K protein-coding genes
  • #5,582of 20,598
    Most Researched86
  • #7,634of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedUBA6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of UBA6 by inosine augments tumour immunogenicity and responses.
PMID: 36109526
Nat Commun · 2022
1.00
2
A Ubiquitination Cascade Regulating the Integrated Stress Response and Survival in Carcinomas.
PMID: 36576405
Cancer Discov · 2023
0.90
3
UBA6 and Its Bispecific Pathways for Ubiquitin and FAT10.
PMID: 31067743
Int J Mol Sci · 2019
0.80
4
A Novel Ubiquitin Complex Regulates Aneuploid Epithelial Tumors by Moderating an Integrated Stress Response.
PMID: 36855916
Cancer Discov · 2023
0.70
5
Disease-associated polyalanine expansion mutations impair UBA6-dependent ubiquitination.
PMID: 38177505
EMBO J · 2024
0.60