HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
HS6ST1
heparan sulfate 6-O-sulfotransferase 1
Chromosome 2 · 2q14.3
NCBI Gene: 9394Ensembl: ENSG00000136720.7HGNC: HGNC:5201UniProt: O60243
25PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingneuron developmentheparan sulfate proteoglycan biosynthetic processheparan sulfate 6-sulfotransferase activityKallmann syndromehypogonadotropic hypogonadismdiabetes mellitusHypercholesterolemia
✦AI Summary

HS6ST1 encodes heparan sulfate 6-O-sulfotransferase 1, a Golgi-resident enzyme catalyzing 6-O-sulfation of heparan sulfate (HS) glycosaminoglycans by transferring sulfate from PAPS to N-sulfoglucosamine residues. This post-translational modification is critical for proper HS structure and function in extracellular matrix interactions. HS6ST1 plays essential roles in neuronal development, where it regulates GnRH neuron function and puberty timing 1. The gene operates within convergent signaling pathways with FGFR1, likely via transcription factors Sox9/Sox10 and chr2 regulator Chd7, collectively regulating extracellular matrix and chr2-related gene expression 2. HS6ST1-mediated heparan sulfate biosynthesis also enables FGF signaling in breast cancer dormant cells, promoting tumor recurrence 3. Mutations in HS6ST1 cause hypogonadotropic hypogonadism 15 with or without anosmia (Kallmann syndrome), where loss-of-function variants impair GnRH signaling 4. Heterozygous HS6ST1 mutations cause self-limited delayed puberty, showing incomplete penetrance compared to complete HH 1. In cancer biology, HS6ST1 overexpression in cancer-associated fibroblasts promotes cholangiocarcinoma progression and metastasis 5. HS6ST1 downregulation occurs in gliomas, contributing to altered HS biosynthesis 6. Additionally, heme exposure modulates HS6ST1 expression in endothelial cells, affecting glycocalyx integrity and complement activation in thrombotic microangiopathies 7.

Sources cited
1
HS6ST1 heterozygous mutations cause self-limited delayed puberty with delayed vaginal opening in mice despite normal GnRH neuron counts
PMID: 29931354
2
HS6ST1 disruption alters genes in extracellular and chromatin pathways converging with FGFR1 via Sox9/Sox10 and Chd7 in Kallmann syndrome
PMID: 35899427
3
HS6ST1-mediated heparan sulfate 6-O-sulfation enables FGF1-FGFR2 signaling promoting dormant breast cancer cell survival and recurrence
PMID: 38065100
4
HS6ST1 mutations are implicated in congenital hypogonadotropic hypogonadism and Kallmann syndrome through FGFR1 pathway modulation
PMID: 23643382
5
HS6ST1 overexpression in cancer-associated fibroblasts is associated with cholangiocarcinoma migration, invasion, and unfavorable prognosis with lymph node metastasis
PMID: 36586771
6
HS6ST1 expression is downregulated 2-5 fold in gliomas contributing to altered heparan sulfate biosynthesis
PMID: 29104277
7
Heme exposure modulates HS6ST1 expression in endothelial cells affecting glycocalyx integrity and local complement activation in thrombotic microangiopathies
PMID: 37164260
Disease Associationsⓘ21
Kallmann syndromeOpen Targets
0.70Strong
hypogonadotropic hypogonadismOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.33Weak
HypercholesterolemiaOpen Targets
0.32Weak
Abnormal lung morphologyOpen Targets
0.22Weak
mixed connective tissue diseaseOpen Targets
0.19Weak
gallbladder diseaseOpen Targets
0.17Weak
type 1 diabetes nephropathyOpen Targets
0.17Weak
drug allergyOpen Targets
0.17Weak
knee fractureOpen Targets
0.17Weak
male reproductive organ cancerOpen Targets
0.17Weak
age-related macular degenerationOpen Targets
0.08Suggestive
X-linked retinal dysplasiaOpen Targets
0.07Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.06Suggestive
Stargardt diseaseOpen Targets
0.06Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.06Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
Hypogonadotropic hypogonadism 15 with or without anosmiaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NDST1Protein interaction76%HS3ST1Protein interaction75%NSMFProtein interaction74%GLCEProtein interaction74%HS2ST1Protein interaction74%NDST2Protein interaction74%
Tissue Expression6 tissues
Liver
100%
Brain
79%
Ovary
58%
Lung
40%
Heart
15%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
HS6ST1NDST1HS3ST1NSMFGLCEHS2ST1NDST2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60243
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.18 [0.09–0.42]
RankingsWhere HS6ST1 stands among ~20K protein-coding genes
  • #12,995of 20,598
    Most Researched25
  • #2,234of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedHS6ST1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
PMID: 33463549
J Clin Invest · 2021
1.00
2
B3GALT6 promotes dormant breast cancer cell survival and recurrence by enabling heparan sulfate-mediated FGF signaling.
PMID: 38065100
Cancer Cell · 2024
0.90
3
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
PMID: 23643382
Am J Hum Genet · 2013
0.80
4
PMID: 20301509
0.70
5
HS6ST1 overexpressed in cancer-associated fibroblast and inhibited cholangiocarcinoma progression.
PMID: 36586771
Dig Liver Dis · 2023
0.60