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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B4GALT1
beta-1,4-galactosyltransferase 1
Chromosome 9 · 9p21.1
NCBI Gene: 2683Ensembl: ENSG00000086062.14HGNC: HGNC:924UniProt: B7ZAH9
124PubMed Papers
22Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
desmosomebeta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activityGO:0005615external side of plasma membraneB4GALT1-congenital disorder of glycosylationneurodegenerative diseasecongenital disorder of glycosylation type IIgout
✦AI Summary

B4GALT1 encodes beta-1,4-galactosyltransferase 1, a membrane-bound glycoprotein that catalyzes the transfer of galactose to acceptor sugars, functioning primarily in N-linked glycosylation and glycan remodeling 1. The enzyme operates in the Golgi apparatus and can exist in secreted forms involved in extracellular glycan modification 2. Mechanistically, B4GALT1 mediates protein glycosylation with pleiotropic effects. In lung adenocarcinoma, it directly catalyzes N-linked glycosylation of PD-L1, preventing its degradation and promoting immune evasion, while simultaneously stabilizing TAZ protein to activate CD274 transcriptionally 2. In leukemia, B4GALT1 silencing inhibits hedgehog signaling and reverses multidrug resistance 1. In endometrial cancer, the NOLC1-B4GALT1 axis induces O-glycosylation alterations that enhance paclitaxel resistance 3. B4GALT1 demonstrates consistent oncogenic roles across multiple cancer types. Knockdown inhibits glioblastoma proliferation through increased apoptosis and autophagy, reducing lactic acid production and enhancing anti-tumor immune responses 45. Conversely, in colorectal cancer, B4GALT1-dependent galectin-8 N-glycosylation suppresses TGF-β signaling and metastasis 6, suggesting context-dependent functions. Genetically, mutations in B4GALT1 associate with congenital disorders of glycosylation and lipid metabolism abnormalities. These findings position B4GALT1 as a promising therapeutic target for cancer immunotherapy and chemoresistance reversal.

Sources cited
1
B4GALT1 mediates N-linked glycosylation of PD-L1, preventing degradation and promoting immune escape in lung adenocarcinoma; also stabilizes TAZ protein via glycosylation
PMID: 37303063
2
B4GALT1 encodes type II membrane-bound glycoprotein that transfers galactose; silencing reverses multidrug resistance in leukemia by downregulating hedgehog signaling
PMID: 23024026
3
NOLC1 activates B4GALT1 transcription, leading to abnormal O-glycosylation that enhances paclitaxel resistance in endometrial cancer
PMID: 40097806
4
B4GALT1 knockdown inhibits glioblastoma development in vitro and in vivo, increasing apoptosis and autophagy through Bax, Bcl-2, cleaved caspase-3, Beclin-1, and LC3 pathways
PMID: 33287670
5
B4GALT1 is a glycolysis-related gene upregulated in glioblastoma; knockdown reduces lactic acid levels and increases TNF-α and interferon-γ production
PMID: 40460949
6
B4GALT1-dependent galectin-8 N-glycosylation binds TGF-β receptor, suppressing EMT and colorectal cancer metastasis through inhibition of RAS/Src signaling
PMID: 39231945
Disease Associationsⓘ22
B4GALT1-congenital disorder of glycosylationOpen Targets
0.76Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
congenital disorder of glycosylation type IIOpen Targets
0.53Moderate
goutOpen Targets
0.51Moderate
congenital disorder of glycosylationOpen Targets
0.42Moderate
combined low LDL and fibrinogenOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.38Weak
lysosomal storage diseaseOpen Targets
0.37Weak
multiple sclerosisOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Parkinson diseaseOpen Targets
0.37Weak
middle ear disorderOpen Targets
0.33Weak
Abnormal mastoid morphologyOpen Targets
0.32Weak
tooth diseaseOpen Targets
0.31Weak
response to statinOpen Targets
0.25Weak
hyperpituitarismOpen Targets
0.25Weak
genetic disorderOpen Targets
0.19Weak
neoplasmOpen Targets
0.10Suggestive
lung adenocarcinomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
Combined low LDL and fibrinogenUniProt
Congenital disorder of glycosylation 2DUniProt
Pathogenic Variants3
NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)Pathogenic
Combined low LDL and fibrinogen
☆☆☆☆2023→ Residue 352
NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)Pathogenic
B4GALT1-congenital disorder of glycosylation
☆☆☆☆2021→ Residue 193
NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)Pathogenic
B4GALT1-congenital disorder of glycosylation
☆☆☆☆2002→ Residue 345
View on ClinVar ↗
Related Genes
GALEProtein interaction100%GALTProtein interaction100%FUT8Protein interaction99%GLB1Protein interaction99%ST6GAL1Protein interaction99%FUT1Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Lung
89%
Ovary
82%
Bone Marrow
58%
Heart
51%
Brain
14%
Gene Interaction Network
Click a node to explore
B4GALT1GALEGALTFUT8GLB1ST6GAL1FUT1
PROTEIN STRUCTURE
Preparing viewer…
PDB2FY7 · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.49 [0.33–0.74]
RankingsWhere B4GALT1 stands among ~20K protein-coding genes
  • #3,784of 20,598
    Most Researched124 · top quartile
  • #3,971of 5,498
    Most Pathogenic Variants3
  • #5,801of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedB4GALT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
B4GALT1 promotes immune escape by regulating the expression of PD-L1 at multiple levels in lung adenocarcinoma.
PMID: 37303063
J Exp Clin Cancer Res · 2023
1.00
2
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
PMID: 33568819
Nature · 2021
0.90
3
B4GALT1 gene knockdown inhibits the hedgehog pathway and reverses multidrug resistance in the human leukemia K562/adriamycin-resistant cell line.
PMID: 23024026
IUBMB Life · 2012
0.80
4
SPOP/NOLC1/B4GALT1 signaling axis enhances paclitaxel resistance in endometrial cancer by inducing O-dysglycosylation.
PMID: 40097806
Oncogene · 2025
0.70
5
Bioinformatics prediction and experimental verification identify B4GALT1 as a diagnostic biomarker of glioblastoma.
PMID: 40460949
Int J Biol Macromol · 2025
0.60