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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B3GAT1
beta-1,3-glucuronyltransferase 1
Chromosome 11 · 11q25
NCBI Gene: 27087Ensembl: ENSG00000109956.14HGNC: HGNC:921UniProt: Q9P2W7
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinggalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activitycarbohydrate metabolic processchondroitin sulfate proteoglycan biosynthetic processprostate carcinomaschizophreniaresponse to xenobiotic stimuluspyogenic granuloma
✦AI Summary

B3GAT1 (beta-1,3-glucuronyltransferase 1) is a Golgi membrane-resident glycosyltransferase that catalyzes glucuronic acid addition to protein glycans, particularly those on plasma glycoproteins and the L2/HNK-1 carbohydrate epitope 1. The enzyme requires saturated sphingomyelins for activity and modifies both glycoproteins and glycosaminoglycans. Mechanistically, B3GAT1 prevents cell surface sialic acid expression by modifying glycan structures 2. This activity restricts influenza virus entry, with B3GAT1 overexpression in respiratory epithelium protecting mice from lethal influenza challenge and blocking multiple sialic acid-dependent viruses including enterovirus D68 2. Additionally, B3GAT1 maintains vascular endothelial glycocalyx integrity; pathogenic downregulation via bacterial PPAD-mediated histone H3 citrullination causes endothelial damage 3. B3GAT1 associates with multiple disease states. Genetic variants in B3GAT1 influence plasma N-glycan composition in European populations 1 and show significant association with schizophrenia risk through altered brain glycosylation 45. Lower B3GAT1 expression correlates with insect venom allergy in mastocytosis patients 6, while genetic evidence links B3GAT1 to prostate cancer susceptibility 7. Clinically, B3GAT1 represents a promising host-directed antiviral therapeutic target with broad-spectrum potential against respiratory viruses, given its well-tolerated respiratory epithelial overexpression and protective efficacy in vivo 2.

Sources cited
1
B3GAT1 polymorphisms associate with plasma N-glycan variation; glucuronic acid is present on glycoprotein antennae
PMID: 21908519
2
B3GAT1 prevents sialic acid expression and broadly restricts sialic acid-dependent virus infection; respiratory overexpression protects mice from lethal influenza
PMID: 36309510
3
B3GAT1 maintains endothelial glycocalyx integrity; downregulation via PPAD/CitH3 pathway causes glycocalyx injury
PMID: 41514292
4
B3GAT1 variants associate with schizophrenia through altered brain glycosylation
PMID: 32377000
5
B3GAT1 identified as putative causal gene for schizophrenia through fine-mapping analysis
PMID: 31844974
6
Lower B3GAT1 expression associates with insect venom allergy in mastocytosis patients
PMID: 27086366
7
B3GAT1 genetic variants show causal association with prostate cancer
PMID: 40883583
Disease Associationsⓘ20
prostate carcinomaOpen Targets
0.48Moderate
schizophreniaOpen Targets
0.34Weak
response to xenobiotic stimulusOpen Targets
0.23Weak
pyogenic granulomaOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.22Weak
placental retentionOpen Targets
0.22Weak
premature birthOpen Targets
0.20Weak
cardiomyopathyOpen Targets
0.20Weak
placenta praeviaOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
Abruptio PlacentaeOpen Targets
0.19Weak
bone remodeling diseaseOpen Targets
0.19Weak
heavy metal poisoningOpen Targets
0.18Weak
smoking initiationOpen Targets
0.18Weak
open-angle glaucomaOpen Targets
0.18Weak
Increased total eosinophil countOpen Targets
0.17Weak
psoriatic arthritisOpen Targets
0.17Weak
aortic valve stenosisOpen Targets
0.17Weak
KeloidOpen Targets
0.17Weak
polymyalgia rheumaticaOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CD8AProtein interaction100%CD2Protein interaction100%IFNGProtein interaction99%FCGR3AProtein interaction96%FCGR3BProtein interaction96%CCR7Protein interaction95%
Tissue Expression6 tissues
Brain
100%
Liver
13%
Bone Marrow
6%
Lung
1%
Ovary
1%
Heart
1%
Gene Interaction Network
Click a node to explore
B3GAT1CD8ACD2IFNGFCGR3AFCGR3BCCR7
PROTEIN STRUCTURE
Preparing viewer…
PDB1V84 · 1.82 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.45 [0.28–0.75]
RankingsWhere B3GAT1 stands among ~20K protein-coding genes
  • #6,697of 20,598
    Most Researched70
  • #5,923of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedB3GAT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Role of TRAF4 and B3GAT1 Gene Expression in the Food Hypersensitivity and Insect Venom Allergy in Mastocytosis.
PMID: 27086366
Arch Immunol Ther Exp (Warsz) · 2016
1.00
2
Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.
PMID: 21908519
Hum Mol Genet · 2011
0.90
3
Cellular glycan modification by B3GAT1 broadly restricts influenza virus infection.
PMID: 36309510
Nat Commun · 2022
0.80
4
PMID: 37590727
0.70
5
Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.
PMID: 32377000
Mol Psychiatry · 2020
0.60