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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UXS1
UDP-glucuronate decarboxylase 1
Chromosome 2 · 2q12.2
NCBI Gene: 80146Ensembl: ENSG00000115652.16HGNC: HGNC:17729UniProt: B3KV61
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein homodimerization activityUDP-glucuronate decarboxylase activityNAD+ bindingneurodegenerative diseaseplacental retentionalcohol drinkingaortic disease
✦AI Summary

UXS1 (UDP-glucuronate decarboxylase 1) catalyzes the NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose, which is essential for glycosaminoglycan biosynthesis 1. The enzyme operates through a two-step mechanism: first oxidizing UDP-glucuronic acid using enzyme-bound NAD+ to produce UDP-4-ketoxylose intermediate, then reducing the 4-keto group to generate UDP-xylose while restoring the NAD+-bound form 1. Beyond its biosynthetic role, UXS1 serves a critical detoxification function by preventing excess accumulation of UDP-glucuronic acid, which can disrupt Golgi morphology and impair receptor trafficking when accumulated 2. This detoxification role creates cancer-specific vulnerabilities, particularly in KEAP1-mutant lung cancers where elevated UGDH expression leads to increased UDP-glucuronic acid production 3. Loss of UXS1 in these cancers causes pyrimidine nucleotide depletion, DNA replication stress, and cell death through UDP sequestration 3. Clinically, UXS1 dependency represents a therapeutic target in cancers with high UGDH expression, including lung adenocarcinoma and gastroesophageal cancer, where UXS1 inhibition selectively affects cancer cells while sparing normal tissue 24. The enzyme also requires metabolic rescue by TGDS-produced UDP-4-keto-6-deoxyglucose in NAD+-scarce environments, with deficiencies linked to Catel-Manzke syndrome 1.

Sources cited
1
UXS1 catalyzes NAD-dependent decarboxylation of UDP-glucuronic acid to UDP-xylose through a two-step oxidation-reduction mechanism
PMID: 40836090
2
UXS1 prevents toxic accumulation of UDP-glucuronic acid that disrupts Golgi function and creates cancer-specific vulnerabilities
PMID: 37880368
3
UXS1 loss in KEAP1-mutant cancers causes pyrimidine depletion and DNA replication stress through UDP sequestration
PMID: 40966319
4
UXS1 represents a therapeutic target in gastroesophageal cancer with genetic variants affecting its expression
PMID: 38748784
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
placental retentionOpen Targets
0.30Weak
alcohol drinkingOpen Targets
0.27Weak
aortic diseaseOpen Targets
0.27Weak
ShockOpen Targets
0.27Weak
secondary malignant neoplasmOpen Targets
0.26Weak
migraine with auraOpen Targets
0.20Weak
hematologic diseaseOpen Targets
0.19Weak
carpal tunnel syndromeOpen Targets
0.16Weak
colorectal carcinomaOpen Targets
0.16Weak
cataractOpen Targets
0.15Weak
cervical carcinomaOpen Targets
0.15Weak
Blount diseaseOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.07Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.07Suggestive
Coxa VaraOpen Targets
0.07Suggestive
tibial hemimeliaOpen Targets
0.06Suggestive
mouth neoplasmOpen Targets
0.06Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.06Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TGDSShared pathway100%FAUProtein interaction95%RPS6Protein interaction72%UGDHProtein interaction70%HS3ST2Shared pathway50%HS3ST1Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
66%
Lung
63%
Brain
46%
Ovary
34%
Liver
26%
Gene Interaction Network
Click a node to explore
UXS1TGDSFAURPS6UGDHHS3ST2HS3ST1
PROTEIN STRUCTURE
Preparing viewer…
PDB2B69 · 1.21 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.81LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.42–0.81]
RankingsWhere UXS1 stands among ~20K protein-coding genes
  • #8,894of 20,598
    Most Researched50
  • #6,721of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedUXS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Disruption of sugar nucleotide clearance is a therapeutic vulnerability of cancer cells.
PMID: 37880368
Nature · 2023
1.00
2
Loss of UXS1 Selectively Depletes Pyrimidines and Induces Replication Stress in KEAP1-Mutant Lung Cancer.
PMID: 40966319
Cancer Res · 2025
0.90
3
Generation of a Biliary Tract Cancer Cell Line Atlas Identifies Molecular Subtypes and Therapeutic Targets.
PMID: 40353839
Cancer Discov · 2025
0.80
4
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia.
PMID: 40836090
Nature · 2025
0.70
5
HiChIP-Based Epigenomic Footprinting Identifies a Promoter Variant of UXS1 That Confers Genetic Susceptibility to Gastroesophageal Cancer.
PMID: 38748784
Cancer Res · 2024
0.60