HS6ST1: Heparan Sulfate 6-O-Sulfotransferase 1
Key enzyme in heparan sulfate biosynthesis, implicated in developmental disorders and cancer
Gene Information Card
| Symbol | HS6ST1 |
|---|---|
| Full Name | Heparan Sulfate 6-O-Sulfotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 9394 ncbi.nlm.nih.gov/gene/9394 |
| Ensembl ID | ENSG00000138069 |
| UniProt ID | O60243 |
| OMIM ID | 604846 |
| HGNC ID | 5209 |
| Aliases | HS6ST, HS6ST-1, MGC129624, MGC129625 |
Description
HS6ST1 encodes a member of the heparan sulfate 6-O-sulfotransferase family. This enzyme catalyzes the transfer of sulfate to position 6 of the N-sulfoglucosamine residue in heparan sulfate, a critical modification for heparan sulfate binding to growth factors, morphogens, and extracellular matrix components. HS6ST1 plays essential roles in developmental signaling, angiogenesis, and tumor progression. Mutations in HS6ST1 are associated with hypogonadotropic hypogonadism and Kallmann syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypogonadotropic hypogonadism 15 with or without anosmia (Kallmann syndrome) | Loss-of-function mutations impair heparan sulfate sulfation, disrupting FGF and FGFR signaling required for GnRH neuron migration | OMIM #614880; ClinVar |
| Breast cancer | Altered HS6ST1 expression affects heparan sulfate structure, modulating growth factor signaling and metastasis | COSMIC; PubMed studies |
| Prostate cancer | Dysregulated HS6ST1 expression influences heparan sulfate-mediated cell adhesion and invasion | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Lung | 7.1 | Medium |
| Brain | 6.3 | Medium |
| Heart | 5.4 | Low |
| Skeletal muscle | 3.8 | Low |
| Pancreas | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Hepatocellular carcinoma cell line |
| A549 | 9.8 | Lung adenocarcinoma cell line |
| MCF7 | 7.2 | Breast cancer cell line |
| PC3 | 6.4 | Prostate cancer cell line |
| HEK293 | 5.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | <0.01% | Loss of function; associated with hypogonadotropic hypogonadism |
| c.1018G>A (p.Gly340Arg) | Missense | <0.01% | Impaired enzyme activity; Kallmann syndrome |
| c.1342C>T (p.Arg448Trp) | Missense | <0.01% | Reduced sulfotransferase activity; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish sulfotransferase activity, leading to impaired heparan sulfate 6-O-sulfation and disrupted FGF signaling.
Gain of Function (GOF)
Not reported in HS6ST1.
Dominant Negative (DN)
Not reported in HS6ST1.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517) | • cytoplasm (GO:0005737) |
| • Golgi apparatus (GO:0005794) | • heparan sulfate proteoglycan biosynthetic process (GO:0015015) |
| • [heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016) | • glycosaminoglycan metabolic process (GO:0030203) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• REACT:21369 ~ Heparan sulfate/heparin (HS-GAG) metabolism
• REACT:21370 ~ Glycosaminoglycan metabolism
• REACT:21371 ~ Metabolism of carbohydrates
• KEGG:00534 ~ Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Protein Summary
HS6ST1 is a 401-amino acid type II transmembrane protein localized to the Golgi apparatus. It contains a sulfotransferase domain that transfers sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the 6-hydroxyl group of N-sulfoglucosamine residues within heparan sulfate. This modification is essential for heparan sulfate binding to fibroblast growth factors (FGFs), vascular endothelial growth factor (VEGF), and other signaling molecules. HS6ST1 activity regulates cell proliferation, differentiation, and migration during development and in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS6ST1 Knockout HEK293 Cell Line | EDJ-KQ50867 | Human | 9394 | Details Get a Quote |
| HS6ST1 Knockout HeLa Cell Line | EDJ-KQ55152 | Human | 9394 | Details Get a Quote |
| HS6ST1 Knockout A-549 Cell Line | EDJ-KQ63632 | Human | 9394 | Details Get a Quote |
| HS6ST1 Knockout HCT 116 Cell Line | EDJ-KQ72095 | Human | 9394 | Details Get a Quote |
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