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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GAL3ST1
galactose-3-O-sulfotransferase 1
Chromosome 22 · 22q12.2
NCBI Gene: 9514Ensembl: ENSG00000128242.14HGNC: HGNC:24240UniProt: B2R7S4
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
galactosylceramide sulfotransferase activityglycerolipid metabolic processsphingolipid metabolic processgalactosylceramide biosynthetic processsporadic Creutzfeld Jacob diseasemelanomacholangiocarcinomacancer
✦AI Summary

GAL3ST1 encodes galactose-3-O-sulfotransferase 1, a sulfotransferase that catalyzes sulfate transfer to position 3 of non-reducing beta-galactosyl residues in glycosphingolipids 1. The enzyme synthesizes major myelin lipid galactosylceramide sulfate (sulfatide) and seminolipid in spermatocytes 1. GAL3ST1 is the only enzyme that sulfates sphingolipids to produce sulfatides, fundamental myelin components 2. In disease pathogenesis, GAL3ST1 has emerging relevance across multiple conditions. Genome-wide association studies identified GAL3ST1 variants as genetic risk factors for sporadic Creutzfeldt-Jakob disease (sCJD), implicating sulfatide metabolism in prion disease susceptibility 23. In Alzheimer's disease, reduced sulfatide levels correlate with disease progression; APP processing regulates GAL3ST1 expression, and sulfatide supplementation decreases amyloid-beta generation 4. GAL3ST1-produced sulfatides mediate inflammatory pain through selectin signaling in the spinal cord 5. In cancer, GAL3ST1 expression is enriched in pancreatic cancer precursors and associates with altered sphingolipid metabolism relevant to tumor progression 6. ASIV-induced GAL3ST1 upregulation via FOXA1 transcriptional activation inhibits triple-negative breast cancer growth 7. Clinically, GAL3ST1 represents a potential biomarker and therapeutic target in neurodegenerative diseases and cancer, though prognostic utility in renal cell carcinoma remains uncertain 8.

Sources cited
1
GAL3ST1 encodes galactose-3-O-sulfotransferase 1, a sulfotransferase that catalyzes sulfate transfer to position 3 of non-reducing beta-galactosyl residues in glycosphingolipids .
PMID: 8830034
2
GAL3ST1 is the only enzyme that sulfates sphingolipids to produce sulfatides, fundamental myelin components .
PMID: 32565065
3
In Alzheimer's disease, reduced sulfatide levels correlate with disease progression; APP processing regulates GAL3ST1 expression, and sulfatide supplementation decreases amyloid-beta generation .
PMID: 37972592
4
GAL3ST1-produced sulfatides mediate inflammatory pain through selectin signaling in the spinal cord .
PMID: 36528843
5
In cancer, GAL3ST1 expression is enriched in pancreatic cancer precursors and associates with altered sphingolipid metabolism relevant to tumor progression .
PMID: 40268349
6
ASIV-induced GAL3ST1 upregulation via FOXA1 transcriptional activation inhibits triple-negative breast cancer growth .
PMID: 40472617
7
Clinically, GAL3ST1 represents a potential biomarker and therapeutic target in neurodegenerative diseases and cancer, though prognostic utility in renal cell carcinoma remains uncertain .
PMID: 34035403
Disease Associationsⓘ20
sporadic Creutzfeld Jacob diseaseOpen Targets
0.25Weak
melanomaOpen Targets
0.08Suggestive
cholangiocarcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.06Suggestive
renal cell carcinomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.05Suggestive
azoospermiaOpen Targets
0.05Suggestive
tauopathyOpen Targets
0.05Suggestive
nail-patella syndromeOpen Targets
0.05Suggestive
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
0.05Suggestive
X-linked intellectual disability-psychosis-macroorchidism syndromeOpen Targets
0.05Suggestive
gestational diabetesOpen Targets
0.05Suggestive
SepsisOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
spinocerebellar ataxia type 32Open Targets
0.05Suggestive
renal cell adenocarcinomaOpen Targets
0.05Suggestive
Adult-onset autosomal recessive cerebellar ataxiaOpen Targets
0.04Suggestive
autosomal recessive spinocerebellar ataxia 16Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALCProtein interaction91%GLAProtein interaction91%NEU1Protein interaction91%NEU2Protein interaction91%UGT8Protein interaction91%NEU4Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Liver
59%
Ovary
30%
Lung
17%
Bone Marrow
1%
Heart
0%
Gene Interaction Network
Click a node to explore
GAL3ST1GALCGLANEU1NEU2UGT8NEU4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q99999
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.77LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.49 [0.33–0.77]
RankingsWhere GAL3ST1 stands among ~20K protein-coding genes
  • #12,795of 20,598
    Most Researched26
  • #6,278of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedGAL3ST1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Long-chain sulfatide enrichment is an actionable metabolic vulnerability in intraductal papillary mucinous neoplasm (IPMN)-associated pancreatic cancers.
PMID: 40268349
Gut · 2025
1.00
2
Genetic risk factors for Creutzfeldt-Jakob disease.
PMID: 32565065
Neurobiol Dis · 2020
0.90
3
Astragaloside IV inhibits the growth of obesity-associated triple-negative breast cancer by activating FOXA1 transcription factor to regulate GAL3ST1-GalCer signaling and remodel sphingolipid metabolism.
PMID: 40472617
Phytomedicine · 2025
0.80
4
Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes.
PMID: 39865733
Brain · 2025
0.70
5
The prognostic value of galactosylceramide-sulfotransferase (Gal3ST1) in human renal cell carcinoma.
PMID: 34035403
Sci Rep · 2021
0.60