HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
6 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
B3GALT1
beta-1,3-galactosyltransferase 1
Chromosome 2 Β· 2q24.3
NCBI Gene: 8708Ensembl: ENSG00000172318.7HGNC: HGNC:916UniProt: Q9Y5Z6
18PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glucosylceramide metabolic processN-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activityoligosaccharide biosynthetic processGolgi membraneinsomniachronic venous hypertensionDNA methylationAnxiety
✦AI Summary

B3GALT1 encodes beta-1,3-galactosyltransferase 1, a Golgi-localized enzyme that catalyzes the transfer of galactose from UDP-galactose to substrates bearing terminal beta-N-acetylglucosamine residues, functioning in the biosynthesis of glycolipid and glycoprotein carbohydrate moieties. The enzyme exhibits strict substrate specificity, remaining inactive toward alpha-N-acetylglucosamine or alpha-N-acetylgalactosamine residues. B3GALT1 is involved in synthesizing sialyl Lewis a selectin ligands; histone deacetylase inhibitors upregulate B3GALT1 expression in normal prostatic cells to enhance sLe(a) production on MUC1 mucins 1, whereas cancer cells require both high B3GALT1 expression and MUC1 presence for sLe(a) synthesis 1. In extracellular vesicles, B3GALT1-modulated bisected GlcNAc glycosylation regulates the pre-metastatic immune microenvironment, promoting CD8+ T cell infiltration and reducing immune evasion in breast cancer metastasis 2. Clinically, B3GALT1 appears as a component of tumor mutation burden-related prognostic signatures in epithelial ovarian cancer and kidney renal papillary cell carcinoma, correlating with immune cell infiltration patterns and survival outcomes 34. However, a Parkinson's disease genome-wide association locus on chromosome 2.3 containing B3GALT1 appears to involve non-coding regulatory variants rather than B3GALT1 exonic changes 5.

Sources cited
1
B3GALT1 upregulation by histone deacetylase inhibitors enhances sialyl Lewis a synthesis on MUC1 in normal prostatic cells
PMID: 23451223
2
B3GALT1-mediated bisected GlcNAc glycosylation on extracellular vesicles regulates immune responses in breast cancer metastasis
PMID: 40157085
3
B3GALT1 is part of tumor mutation burden-related prognostic signatures predicting survival in epithelial ovarian cancer
PMID: 33173439
4
B3GALT1-AS1 is associated with ferroptosis-related prognostic markers in kidney renal papillary cell carcinoma
PMID: 36104680
5
B3GALT1 exonic variants are not independently responsible for Parkinson's disease association at chromosome 2q24.3 locus
PMID: 26090850
Disease Associationsβ“˜20
insomniaOpen Targets
0.35Weak
chronic venous hypertensionOpen Targets
0.28Weak
DNA methylationOpen Targets
0.27Weak
AnxietyOpen Targets
0.27Weak
liver diseaseOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.26Weak
tooth diseaseOpen Targets
0.26Weak
Abnormality of the gastrointestinal tractOpen Targets
0.25Weak
diabetic ketoacidosisOpen Targets
0.25Weak
subarachnoid hemorrhageOpen Targets
0.24Weak
response to antihypertensive drugOpen Targets
0.24Weak
sign or symptomOpen Targets
0.24Weak
actinic keratosisOpen Targets
0.23Weak
mucositisOpen Targets
0.23Weak
stomatitisOpen Targets
0.23Weak
HirsutismOpen Targets
0.15Weak
alcohol drinkingOpen Targets
0.14Weak
heart conduction diseaseOpen Targets
0.13Weak
prostate cancerOpen Targets
0.11Weak
response to xenobiotic stimulusOpen Targets
0.11Weak
Pathogenic Variants1
NM_020981.4(B3GALT1):c.402C>G (p.Ser134Arg)Pathogenic
Hypercholesterolemia, familial, 1
β˜†β˜†β˜†β˜†2022β†’ Residue 134
View on ClinVar β†—
Related Genes
B3GALT5Protein interaction97%B3GALT2Protein interaction95%FUT1Protein interaction93%FUT2Protein interaction93%FUT3Protein interaction93%ST3GAL4Protein interaction93%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
4%
Ovary
4%
Lung
2%
Heart
2%
Liver
1%
Gene Interaction Network
Click a node to explore
B3GALT1B3GALT5B3GALT2FUT1FUT2FUT3ST3GAL4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5Z6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.26Tolerant
Observed/Expected LoF0.42 [0.26–0.71]
RankingsWhere B3GALT1 stands among ~20K protein-coding genes
  • #14,643of 20,598
    Most Researched18
  • #5,394of 5,498
    Most Pathogenic Variants1
  • #5,452of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedB3GALT1
Sources retrieved6 papers
Response timeβ€”
πŸ“„ Sources
6β–Ό
1
Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus.
PMID: 26090850
PLoS One Β· 2015
1.00
2
Prostatic cell-specific regulation of the synthesis of MUC1-associated sialyl Lewis a.
PMID: 23451223
PLoS One Β· 2013
0.83
3
SLC35A2-mediated bisected GlcNAc-modified extracellular vesicles enhance immune regulation in breast cancer lung metastasis.
PMID: 40157085
Int Immunopharmacol Β· 2025
0.67
4
Multi-omics analysis of tumor mutational burden combined with prognostic assessment in epithelial ovarian cancer based on TCGA database.
PMID: 33173439
Int J Med Sci Β· 2020
0.50
5
Potential biomarkers for predicting the overall survival outcome of kidney renal papillary cell carcinoma: an analysis of ferroptosis-related LNCRNAs.
PMID: 36104680
BMC Urol Β· 2022
0.33