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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GCNT1
glucosaminyl (N-acetyl) transferase 1
Chromosome 9 · 9q21.13
NCBI Gene: 2650Ensembl: ENSG00000187210.15HGNC: HGNC:4203UniProt: Q02742
50PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activityprotein bindingprotein O-linked glycosylation via N-acetyl-galactosamineleukocyte tethering or rollingalcohol drinkinginjurypericarditisglaucoma
✦AI Summary

GCNT1 is a glycosyltransferase that catalyzes the transfer of N-acetylglucosamine (GlcNAc) in beta1-6 linkage to mucin-type core 1 O-glycans, forming branched core 2 O-glycans 1. This enzymatic activity is essential for synthesizing core 2 O-glycans that serve as scaffolds for selectin ligand sialyl Lewis X epitope display by myeloid cells, impacting inflammatory cell recruitment 2. GCNT1 also participates in glycolipid modification and SSEA-1 determinant synthesis. In disease contexts, GCNT1 is significantly upregulated in prostate cancer tissues and is controlled by androgen receptor signaling 3. Elevated GCNT1 expression correlates with altered O-glycosylation of cancer-associated proteins (PSA, MUC1, PAP) and serves as an independent predictor of biochemical recurrence after radical prostatectomy 4. GCNT1 expression in prostate biopsies indicates aggressive disease and extracapsular extension 5, with detectable levels in post-DRE urine identifying high-risk patients. Mechanistically, GCNT1-mediated glycosylation promotes tumor growth through altered oncogenic gene expression pathways 6. Beyond cancer, GCNT1 deficiency increases tuberculosis susceptibility through neutrophil dysregulation 7. Additionally, GCNT1 biosynthesis dynamically controls Siglec-7 ligand expression on T-cells, regulating immune cell activation 8. These findings establish GCNT1 as a crucial modulator of aberrant glycosylation in disease and a promising biomarker and therapeutic target.

Sources cited
1
GCNT1 catalyzes GlcNAc transfer in beta1-6 linkage to form core 2 O-glycans
PMID: 1329093
2
Core 2 O-glycans serve as scaffolds for sialyl Lewis X epitope display by myeloid cells affecting inflammatory recruitment
PMID: 23027862
3
GCNT1 is upregulated in prostate cancer and under direct androgen receptor control
PMID: 28159857
4
GCNT1 expression in prostate biopsy is an independent predictor of PSA recurrence after radical prostatectomy
PMID: 26768364
5
GCNT1 positivity correlates with extracapsular extension and higher Gleason score in prostate cancer
PMID: 26390303
6
GCNT1 overexpression associates with elevated core 2 O-linked sialyl Lewis X in PSA, PAP, and MUC1 in prostate cancer
PMID: 24854630
7
GCNT1 promotes prostate tumor growth and alters oncogenic gene expression pathways important in metastasis
PMID: 37813880
8
Gcnt1 deficiency increases tuberculosis susceptibility through neutrophil-mediated mechanisms
PMID: 32203062
9
GCNT1 dynamically controls biosynthesis of Siglec-7-binding glycans on T-cells, regulating immune cell activation
PMID: 38141764
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.31Weak
injuryOpen Targets
0.30Weak
pericarditisOpen Targets
0.30Weak
glaucomaOpen Targets
0.29Weak
open-angle glaucomaOpen Targets
0.24Weak
hemangiomaOpen Targets
0.20Weak
lymphangiomaOpen Targets
0.20Weak
bile duct disorderOpen Targets
0.19Weak
heart conduction diseaseOpen Targets
0.17Weak
infectionOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.08Suggestive
prostate cancerOpen Targets
0.08Suggestive
preeclampsiaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.05Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.05Suggestive
response to antihypertensive drugOpen Targets
0.05Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
immunodeficiency 53Open Targets
0.04Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
C1GALT1Protein interaction98%C1GALT1C1Protein interaction97%GALNT1Protein interaction97%GALNT2Protein interaction97%GALNT3Protein interaction97%ST6GALNAC1Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
32%
Lung
21%
Heart
14%
Liver
6%
Ovary
4%
Gene Interaction Network
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GCNT1C1GALT1C1GALT1C1GALNT1GALNT2GALNT3ST6GALNAC1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q02742
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.38–0.83]
RankingsWhere GCNT1 stands among ~20K protein-coding genes
  • #8,813of 20,598
    Most Researched50
  • #7,040of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedGCNT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Increased expression of GCNT1 is associated with altered O-glycosylation of PSA, PAP, and MUC1 in human prostate cancers.
PMID: 24854630
Prostate · 2014
1.00
2
Core 2 β-1, 6-N-acetylglucosaminyltransferase-1 expression in prostate biopsy specimen is an indicator of prostate cancer aggressiveness.
PMID: 26768364
Biochem Biophys Res Commun · 2016
0.90
3
The role of GCNT1 mediated O-glycosylation in aggressive prostate cancer.
PMID: 37813880
Sci Rep · 2023
0.80
4
Glycosylation is a global target for androgen control in prostate cancer cells.
PMID: 28159857
Endocr Relat Cancer · 2017
0.70
5
Deficiency in the glycosyltransferase Gcnt1 increases susceptibility to tuberculosis through a mechanism involving neutrophils.
PMID: 32203062
Mucosal Immunol · 2020
0.60