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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UAP1
UDP-N-acetylglucosamine pyrophosphorylase 1
Chromosome 1 · 1q23.3
NCBI Gene: 6675Ensembl: ENSG00000117143.15HGNC: HGNC:12457UniProt: A0A140VKC0
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein serine pyrophosphorylase activitycytosolidentical protein bindingantiviral innate immune responsetuberculosisneurodegenerative diseasesialolithiasisviral eye infection
✦AI Summary

UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1) catalyzes the synthesis of UDP-GlcNAc, a critical substrate for N-linked glycosylation and post-translational protein modifications. The enzyme exists in multiple isoforms, with the AGX2 isoform demonstrating 8-fold higher activity toward glucosamine 1-phosphate compared to other forms 1. UAP1 functions as a key metabolic hub: it is stabilized through GLUL-mediated prevention of TRIM25-dependent ubiquitination, enabling increased UDP-GlcNAc synthesis and FOXO3 O-GlcNAcylation to support osteogenic differentiation 2. In cancer biology, UAP1 expression is frequently elevated and supports malignant phenotypes. In anaplastic thyroid carcinoma, NSUN2-mediated alternative splicing redirects UAP1 splicing from AGX1 to AGX2, enhancing N-linked glycosylation of ABC transporters and conferring multidrug resistance 1. In lung cancer, high glucose-induced UAP1 upregulation promotes aggressive phenotypes through enhanced N-linked glycosylation 3. UAP1 overexpression in prostate cancer confers resistance to N-linked glycosylation inhibitors and correlates with high androgen receptor expression 4. UAP1 is also selectively translated in cardiomyocyte ferroptosis via ALDH2*2-mediated eIF3E dysregulation 5 and identified as a metabolic vulnerability in multiple myeloma 6. These findings position UAP1 as both a critical metabolic enzyme and a therapeutic target across multiple disease contexts.

Sources cited
1
UAP1 stabilization by GLUL through TRIM25 inhibition increases UDP-GlcNAc synthesis and FOXO3 O-GlcNAcylation in osteogenic differentiation
PMID: 40646162
2
NSUN2-mediated m5C modification induces alternative splicing of UAP1 from AGX1 to AGX2 isoform, enhancing ABC transporter glycosylation and multidrug resistance in anaplastic thyroid carcinoma
PMID: 40083919
3
High glucose upregulates UAP1 expression, enhancing N-linked glycosylation and promoting lung cancer cell proliferation, migration, and invasion
PMID: 41452006
4
UAP1 is overexpressed in prostate cancer, produces 10-fold increased UDP-GlcNAc levels, and confers resistance to N-linked glycosylation inhibitors
PMID: 25241896
5
ALDH2*2 promotes selective translation of UAP1 mRNA containing GAGGACR motif, driving cardiomyocyte ferroptosis in acute myocardial infarction
PMID: 41111418
6
UAP1 is identified as a metabolic vulnerability and essential gene in specific multiple myeloma patient subgroups
PMID: 39394196
7
Glucosamine increases UDP-GlcNAc synthesis through UAP1-mediated pathways, promoting hepatitis B virus replication and autophagy dysregulation
PMID: 31204557
8
UAP1 is identified as a BPH-specific biomarker with high diagnostic accuracy for differentiating benign prostatic hyperplasia from prostate cancer
PMID: 37705744
Disease Associationsⓘ20
tuberculosisOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.30Weak
sialolithiasisOpen Targets
0.27Weak
viral eye infectionOpen Targets
0.27Weak
goutOpen Targets
0.26Weak
gastrointestinal diseaseOpen Targets
0.23Weak
early-onset non-syndromic cataractOpen Targets
0.11Weak
Total congenital cataractOpen Targets
0.10Suggestive
Partial congenital cataractOpen Targets
0.10Suggestive
Cataract-microcornea syndromeOpen Targets
0.09Suggestive
early-onset nuclear cataractOpen Targets
0.09Suggestive
early-onset zonular cataractOpen Targets
0.09Suggestive
isolated ectopia lentisOpen Targets
0.08Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.08Suggestive
pulverulent cataractOpen Targets
0.08Suggestive
Posterior polar cataractOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.07Suggestive
cataract 35Open Targets
0.07Suggestive
cataract 38Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GFPT2Protein interaction99%GNEProtein interaction97%GALEProtein interaction88%GFPT1Protein interaction88%PGM3Protein interaction88%GALK2Protein interaction78%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
98%
Ovary
40%
Lung
36%
Brain
34%
Heart
26%
Gene Interaction Network
Click a node to explore
UAP1GFPT2GNEGALEGFPT1PGM3GALK2
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z2F · 1.70 Å · X-ray
View on RCSB ↗
RankingsWhere UAP1 stands among ~20K protein-coding genes
  • #9,542of 20,598
    Most Researched45
Genes detectedUAP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GLUL mediates FOXO3 O-GlcNAcylation to regulate the osteogenic differentiation of BMSCs and senile osteoporosis.
PMID: 40646162
Cell Death Differ · 2025
1.00
2
ALDH2/eIF3E Interaction Modulates Protein Translation Critical for Cardiomyocyte Ferroptosis in Acute Myocardial Ischemia Injury.
PMID: 41111418
Circulation · 2026
0.90
3
NSUN2-mediated m
PMID: 40083919
Theranostics · 2025
0.80
4
Exploration of diagnostic biomarkers, microenvironment characteristics, and ursolic acid's therapeutic effect for benign prostate hyperplasia.
PMID: 37705744
Int J Biol Sci · 2023
0.70
5
An automated network-based tool to search for metabolic vulnerabilities in cancer.
PMID: 39394196
Nat Commun · 2024
0.60