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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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UAP1L1
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1
Chromosome 9 · 9q34.3
NCBI Gene: 91373Ensembl: ENSG00000197355.12HGNC: HGNC:28082UniProt: Q3KQV9
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
UDP-N-acetylglucosamine diphosphorylase activityUDP-N-acetylglucosamine biosynthetic processcytosoltransferase activity, transferring phosphorus-containing groupsgliomagastric cancerprostate cancerneoplasm
✦AI Summary

UAP1L1 (UDP-N-acetylglucosamine pyrophosphorylase 1 like 1) is a cytosolic enzyme involved in UDP-N-acetylglucosamine biosynthesis and protein O-GlcNAcylation. Unlike its homolog UAP1, UAP1L1 exhibits limited UDP-GlcNAc synthesis activity but directly interacts with O-GlcNAc transferase (OGT) to modulate protein glycosylation 1. UAP1L1 functions distinctly by promoting c-MYC O-GlcNAcylation and stabilization 1. UAP1L1 is significantly upregulated across multiple cancer types and promotes tumorigenicity through distinct downstream mechanisms. In prostate cancer, UAP1L1 enhances proliferation, migration, and invasion via CDCA8 regulation 2. In gastric cancer, it acts through CDK6-mediated cell cycle progression 3. In hepatocellular carcinoma and esophageal squamous cell carcinoma, UAP1L1 overexpression increases proliferation while knockdown induces apoptosis through modulation of pro-apoptotic proteins and PI3K/Akt/MAPK signaling 14. In glioblastoma, elevated UAP1L1 correlates with higher tumor grades and poor prognosis, with knockdown suppressing proliferation in vitro and in vivo 5. UAP1L1 is also identified as a potential marker of temozolomide resistance in glioblastoma 6. In breast cancer, UAP1L1 hypermethylation associates with tumor relapse 7. These findings establish UAP1L1 as a pan-cancer oncogenic factor with therapeutic potential.

Sources cited
1
UAP1L1 promotes hepatoma cell proliferation through interaction with OGT and c-MYC O-GlcNAcylation; has limited UDP-GlcNAc synthesis activity unlike UAP1
PMID: 30097606
2
UAP1L1 promotes prostate cancer proliferation, migration, and invasion through downstream CDCA8 regulation
PMID: 35168617
3
UAP1L1 acts as tumor promoter in gastric cancer through CDK6 regulation, correlating with tumor grade
PMID: 32310823
4
UAP1L1 knockdown inhibits esophageal squamous cell carcinoma proliferation and promotes apoptosis via PI3K/Akt and MAPK pathways
PMID: 33434300
5
UAP1L1 is upregulated in glioma tissues, correlates with higher tumor grades and poor prognosis, and knockdown suppresses glioma cell proliferation in vitro and in vivo
PMID: 33987240
6
UAP1L1 identified as potential marker of temozolomide resistance in glioblastoma
PMID: 38054015
7
UAP1L1 hypermethylation in breast cancer associates with tumor relapse
PMID: 21363912
Disease Associationsⓘ20
gliomaOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
glioblastomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
Klinefelter's syndromeOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
X-linked hyper-IgM syndromeOpen Targets
0.00Suggestive
meningococcal infectionOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GNPNAT1Shared pathway100%GALEProtein interaction96%GNEProtein interaction96%PCBD1Protein interaction79%AFMIDProtein interaction76%UAP1Protein interaction72%
Tissue Expression6 tissues
Lung
100%
Heart
68%
Bone Marrow
56%
Brain
45%
Ovary
24%
Liver
21%
Gene Interaction Network
Click a node to explore
UAP1L1GNPNAT1GALEGNEPCBD1AFMIDUAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB8QH2 · 2.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.50LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.18 [0.94–1.50]
RankingsWhere UAP1L1 stands among ~20K protein-coding genes
  • #14,860of 20,598
    Most Researched18
  • #15,147of 17,882
    Most Constrained (LOEUF)1.50
Genes detectedUAP1L1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Identification of UAP1L1 as a critical factor for prostate cancer and underlying molecular mechanism in tumorigenicity.
PMID: 35168617
J Transl Med · 2022
1.00
2
Identification of UAP1L1 as tumor promotor in gastric cancer through regulation of CDK6.
PMID: 32310823
Aging (Albany NY) · 2020
0.86
3
Identification of UAP1L1 as a critical factor for protein O-GlcNAcylation and cell proliferation in human hepatoma cells.
PMID: 30097606
Oncogene · 2019
0.71
4
Silencing of UAP1L1 inhibits proliferation and induces apoptosis in esophageal squamous cell carcinoma.
PMID: 33434300
Mol Carcinog · 2021
0.57
5
Identification of potential glioma drug resistance target proteins based on ultra-performance liquid chromatography-mass spectrometry differential proteomics.
PMID: 38054015
PeerJ · 2023
0.43