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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HS3ST3A1
heparan sulfate-glucosamine 3-sulfotransferase 3A1
Chromosome 17 · 17p12
NCBI Gene: 9955Ensembl: ENSG00000153976.3HGNC: HGNC:5196UniProt: Q9Y663
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glycosaminoglycan biosynthetic process[heparan sulfate]-glucosamine 3-sulfotransferase activitysulfotransferase activityGolgi membraneDupuytren Contracturebreast neoplasmlumbar disc herniationPalmar Fibromatosis
✦AI Summary

HS3ST3A1 encodes a heparan sulfate 3-O-sulfotransferase that catalyzes the transfer of sulfate groups to glucosamine residues in heparan sulfate chains, specifically targeting N-unsubstituted glucosamine linked to 2-O-sulfo iduronic acid units 1. The enzyme plays critical roles in multiple biological processes through its modification of heparan sulfate proteoglycans. In viral pathogenesis, HS3ST3A1-modified heparan sulfate serves as a binding receptor for Herpes simplex virus-1, facilitating viral entry 1. The gene shows significant clinical relevance in malaria susceptibility, where genetic variants in the HS3ST3A1 promoter region are associated with Plasmodium falciparum parasitaemia levels 23. In pregnancy complications, decreased HS3ST3A1 expression in placental tissue correlates with pre-eclampsia, maternal blood pressure, and reduced neonatal birth weight 4. The enzyme also contributes to cancer progression, particularly in multiple myeloma, where HS3ST3A1-mediated 3-O-sulfation of syndecan-1 enhances tumor aggressiveness and drug resistance 5. Additionally, HS3ST3A1 variants containing Neanderthal introgression influence human tooth crown dimensions, suggesting evolutionary significance 6. The gene's expression in dental development and its interaction with key proteins like those involved in Alzheimer's disease pathways further demonstrate its broad biological importance 1.

Sources cited
1
HS3ST3A1 encodes a heparan sulfate 3-O-sulfotransferase that catalyzes sulfate transfer to glucosamine residues and interacts with proteins involved in Alzheimer's disease
PMID: 39558004
2
Genetic variants in HS3ST3A1 are associated with Plasmodium falciparum parasitaemia levels
PMID: 22475533
3
SNPs in HS3ST3A1 promoter region affect transcription activity and are linked to malaria parasitaemia
PMID: 29718295
4
Decreased HS3ST3A1 expression in placental tissue correlates with pre-eclampsia and reduced neonatal birth weight
PMID: 26410339
5
HS3ST3A1-mediated 3-O-sulfation of syndecan-1 enhances multiple myeloma aggressiveness and drug resistance
PMID: 37201729
6
HS3ST3A1 variants with Neanderthal introgression influence human tooth crown dimensions and the gene is expressed during dental development
PMID: 39672157
Disease Associationsⓘ20
Dupuytren ContractureOpen Targets
0.44Moderate
breast neoplasmOpen Targets
0.33Weak
lumbar disc herniationOpen Targets
0.32Weak
Palmar FibromatosisOpen Targets
0.32Weak
hyperparathyroidismOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.31Weak
hypothyroidismOpen Targets
0.30Weak
secondary malignant neoplasmOpen Targets
0.27Weak
self-injurious ideationOpen Targets
0.22Weak
Respiratory insufficiencyOpen Targets
0.21Weak
cellulitisOpen Targets
0.19Weak
abscessOpen Targets
0.18Weak
HypocalcemiaOpen Targets
0.18Weak
response to antihypertensive drugOpen Targets
0.17Weak
epilepsyOpen Targets
0.17Weak
neurodegenerative diseaseOpen Targets
0.16Weak
thyroiditisOpen Targets
0.12Weak
urinary bladder cancerOpen Targets
0.12Weak
radiation-induced disorderOpen Targets
0.11Weak
skin diseaseOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SULT1C4Protein interaction84%SULT1B1Protein interaction83%SULT1C3Protein interaction83%HS3ST3B1Protein interaction76%HS3ST1Shared pathway67%HS3ST2Shared pathway67%
Tissue Expression6 tissues
Ovary
100%
Lung
12%
Liver
9%
Heart
7%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HS3ST3A1SULT1C4SULT1B1SULT1C3HS3ST3B1HS3ST1HS3ST2
PROTEIN STRUCTURE
Preparing viewer…
PDB6XKG · 1.55 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.23 [0.84–1.77]
RankingsWhere HS3ST3A1 stands among ~20K protein-coding genes
  • #13,925of 20,598
    Most Researched21
  • #16,411of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedHS3ST3A1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of gene and microRNA changes in response to smoking in human airway epithelium by bioinformatics analyses.
PMID: 31568004
Medicine (Baltimore) · 2019
1.00
2
Genetic variations in genes involved in heparan sulphate biosynthesis are associated with Plasmodium falciparum parasitaemia: a familial study in Burkina Faso.
PMID: 22475533
Malar J · 2012
0.90
3
Placental expression of heparan sulfate 3-O-sulfotransferase-3A1 in normotensive and pre-eclamptic pregnancies.
PMID: 26410339
Placenta · 2015
0.80
4
Genetic and enzymatic characterization of 3-O-sulfotransferase SNPs associated with Plasmodium falciparum parasitaemia.
PMID: 29718295
Glycobiology · 2018
0.70
5
The pathogenic APP N-terminal Val225Ala mutation alters tau protein liquid-liquid phase separation and exacerbates synaptic damage.
PMID: 39558004
Mol Psychiatry · 2025
0.60