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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT1
polypeptide N-acetylgalactosaminyltransferase 1
Chromosome 18 · 18q12.2
NCBI Gene: 2589Ensembl: ENSG00000141429.15HGNC: HGNC:4123UniProt: Q05BM8
74PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activitymanganese ion bindingmembraneGolgi apparatussevere acute respiratory syndromeCOVID-19color vision disorderrespiratory tract infectious disorder
✦AI Summary

GALNT1 (polypeptide N-acetylgalactosaminyltransferase 1) catalyzes the initial transfer of N-acetyl-D-galactosamine to serine or threonine residues on protein substrates, initiating O-linked oligosaccharide biosynthesis 12. The enzyme exhibits broad substrate specificity, including mucin-derived peptides 2, and localizes to the Golgi apparatus and endoplasmic reticulum [GO annotations]. GALNT1 is frequently upregulated in multiple human cancers. In hepatocellular carcinoma, elevated GALNT1 promotes cell migration and invasion through EGFR O-glycosylation and activation, with poor survival correlation 3. Similarly, GALNT1 overexpression in gastric cancer enhances malignancy via aberrant CD44 O-glycosylation, activating Wnt/β-catenin signaling 4. In bladder cancer, GALNT1-mediated SHH glycosylation maintains cancer stem cell self-renewal and tumor-initiating capacity 5. GALNT1 expression is modulated by the LAMTOR5/c-Jun/c-Src axis in breast cancer metastasis 6. Beyond oncology, GALNT1 is essential for normal heart valve development; Galnt1-null mice exhibit congenital valve defects and compromised cardiac function due to aberrant extracellular matrix remodeling 7. Additionally, let-7i-5p-mediated GALNT1 suppression aggravates renal fibrosis and inflammation 8, and elevated plasma GALNT1 predicts visuospatial cognitive decline 9.

Sources cited
1
GALNT1 catalyzes transfer of N-acetyl-D-galactosamine to serine/threonine residues initiating O-linked oligosaccharide biosynthesis
PMID: 8690719
2
GALNT1 has broad substrate specificity including apomucin, MUC5AC, MUC1, and MUC2-derived peptides
PMID: 9295285
3
GALNT1 is upregulated in hepatocellular carcinoma and promotes migration/invasion via EGFR O-glycosylation; poor survival correlation
PMID: 25730904
4
GALNT1 upregulation in gastric cancer enhances malignancy through aberrant CD44 O-glycosylation and Wnt/β-catenin pathway activation
PMID: 36439876
5
GALNT1-mediated SHH O-glycosylation maintains bladder cancer stem cell self-renewal and tumor-initiating capacity
PMID: 26676748
6
LAMTOR5/c-Jun/c-Src axis regulates GALNT1 to promote abnormal O-glycosylation in breast cancer metastasis
PMID: 31836847
7
Galnt1 is essential for normal heart valve development; Galnt1-null mice exhibit congenital valve defects and cardiac dysfunction
PMID: 25615642
8
Let-7i-5p targets GALNT1 to aggravate renal fibrosis and inflammation
PMID: 33881001
9
Elevated plasma GALNT1 predicts visuospatial cognitive decline over 9-year follow-up
PMID: 40469059
Disease Associationsⓘ20
COVID-19Open Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
color vision disorderOpen Targets
0.31Weak
respiratory tract infectious disorderOpen Targets
0.28Weak
health study participationOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
Myasthenia gravisOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
injuryOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.07Suggestive
Hypereosinophilic syndromeOpen Targets
0.04Suggestive
proteasome-associated autoinflammatory syndrome 6Open Targets
0.04Suggestive
thrombocytopenia 13, syndromicOpen Targets
0.04Suggestive
X-linked lymphoproliferative diseaseOpen Targets
0.04Suggestive
immunodeficiency 93 and hypertrophic cardiomyopathyOpen Targets
0.03Suggestive
immunodeficiency 80 with or without congenital cardiomyopathyOpen Targets
0.03Suggestive
persistent truncus arteriosusOpen Targets
0.03Suggestive
Truncus arteriosusOpen Targets
0.03Suggestive
congenitally corrected transposition of the great arteriesOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C1GALT1Protein interaction98%C1GALT1C1Protein interaction97%GCNT1Protein interaction97%B3GNT6Protein interaction96%ST6GALNAC1Protein interaction94%B4GALNT1Protein interaction86%
Tissue Expression6 tissues
Heart
100%
Liver
75%
Bone Marrow
74%
Lung
65%
Brain
54%
Ovary
43%
Gene Interaction Network
Click a node to explore
GALNT1C1GALT1C1GALT1C1GCNT1B3GNT6ST6GALNAC1B4GALNT1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q05BM8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.36]
RankingsWhere GALNT1 stands among ~20K protein-coding genes
  • #6,396of 20,598
    Most Researched74
  • #1,604of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedGALNT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium.
PMID: 20142253
Cancer Epidemiol Biomarkers Prev · 2010
1.00
2
Knockdown of GALNT1 suppresses malignant phenotype of hepatocellular carcinoma by suppressing EGFR signaling.
PMID: 25730904
Oncotarget · 2015
0.90
3
GALNT1 Enhances Malignant Phenotype of Gastric Cancer via Modulating CD44 Glycosylation to Activate the Wnt/β-catenin Signaling Pathway.
PMID: 36439876
Int J Biol Sci · 2022
0.80
4
GALNT1-Mediated Glycosylation and Activation of Sonic Hedgehog Signaling Maintains the Self-Renewal and Tumor-Initiating Capacity of Bladder Cancer Stem Cells.
PMID: 26676748
Cancer Res · 2016
0.70
5
LC-MS/MS proteomics identifies plasma proteins related to cognition over 9-year follow-up.
PMID: 40469059
Alzheimers Dement · 2025
0.60