GAL3ST1
Galactose-3-O-Sulfotransferase 1
Gene Information Card
| Symbol | GAL3ST1 |
|---|---|
| Full Name | Galactose-3-O-Sulfotransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 9514 ncbi.nlm.nih.gov/gene/9514 |
| Ensembl ID | ENSG00000100226 |
| UniProt ID | Q9H3R5 |
| OMIM ID | 610181 |
| HGNC ID | HGNC:24242 |
| Aliases | GAL3ST-1, Gal3ST1, 3-OST-1, 3OST1 |
Description
GAL3ST1 encodes a member of the galactose-3-O-sulfotransferase family. This enzyme catalyzes the transfer of sulfate to galactose residues in glycoproteins and glycolipids, playing a role in the biosynthesis of sulfated glycosaminoglycans such as heparan sulfate. The gene is involved in cell adhesion, signaling, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered sulfation of cell surface glycans may promote tumor growth and metastasis | COSMIC; PMID: 25691885 |
| Breast cancer | Overexpression associated with poor prognosis and invasive phenotype | PMID: 23542345 |
| Hepatocellular carcinoma | Upregulation linked to increased cell migration and invasion | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Colon | 8.7 | Medium |
| Breast | 5.1 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HT-29 | 10.5 | Colorectal adenocarcinoma cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| A549 | 4.1 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.1015G>A (p.Gly339Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • galactose 3-O-sulfotransferase activity | • sulfotransferase activity |
| • Golgi membrane | • protein sulfation |
| • carbohydrate sulfation |
Pathways
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin
• Sulfur metabolism
Protein Summary
GAL3ST1 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the 3-O-sulfation of galactose residues in glycoproteins and glycolipids, contributing to the structural diversity of sulfated glycans. This modification influences cell-cell and cell-matrix interactions, and its dysregulation is implicated in cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAL3ST1 Knockout HEK293 Cell Line | EDJ-KQ6618 | Human | 9514 | Details Get a Quote |
| GAL3ST1 Knockout A-549 Cell Line | EDJ-KQ30858 | Human | 9514 | Details Get a Quote |
| GAL3ST1 Knockout HeLa Cell Line | EDJ-KQ55185 | Human | 9514 | Details Get a Quote |
| GAL3ST1 Knockout HCT 116 Cell Line | EDJ-KQ72128 | Human | 9514 | Details Get a Quote |
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