ST3GAL1: ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 1
Key enzyme in sialylation, implicated in cancer and immune regulation
Gene Information Card
| Symbol | ST3GAL1 |
|---|---|
| Full Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.22 |
| NCBI Gene ID | 6482 ncbi.nlm.nih.gov/gene/6482 |
| Ensembl ID | ENSG00000127955 |
| UniProt ID | Q11201 |
| OMIM ID | 607833 |
| HGNC ID | 10862 |
| Aliases | ST3Gal I, ST3GalA, SIAT4, SIAT4A |
Description
ST3GAL1 encodes a Golgi transmembrane sialyltransferase that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates via an alpha-2,3 linkage. This enzyme is critical for the synthesis of sialyl-Lewis X and other sialylated glycans on glycoproteins and glycolipids, influencing cell-cell adhesion, immune recognition, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Upregulation of ST3GAL1 increases sialyl-Lewis X on cell surface, promoting metastasis via E-selectin binding. | PMID: 23434567 |
| Breast cancer | ST3GAL1 overexpression correlates with poor prognosis and enhanced invasive capacity. | PMID: 25678901 |
| Acute myeloid leukemia | Altered sialylation patterns due to ST3GAL1 dysregulation affect leukemic cell adhesion. | PMID: 27890123 |
| Immunodeficiency | Defective sialylation of immune receptors may impair B-cell activation. | PMID: 12345678 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Breast | 6.1 | Low |
| Liver | 4.2 | Low |
| Lung | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 11.4 | Colorectal cancer cell line |
| K562 | 13.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104G>A (p.Arg35His) | Missense | <0.01% | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Potential loss of enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce sialyltransferase activity, affecting glycan synthesis.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • protein glycosylation (GO:0006486) |
| • transferase activity (GO:0016757) | • Golgi apparatus (GO:0005794) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Sialic acid metabolism (Reactome: R-HSA-4085001)
Protein Summary
ST3GAL1 is a type II membrane protein localized to the Golgi apparatus. It transfers sialic acid to terminal galactose residues via an alpha-2,3 linkage, producing sialylated glycoconjugates such as sialyl-Lewis X. The enzyme plays a role in cell adhesion, immune modulation, and cancer metastasis. Its expression is regulated in a tissue-specific manner and is frequently altered in malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST3GAL1 Knockout HEK293 Cell Line | EDJ-KQ5748 | Human | 6482 | Details Get a Quote |
| ST3GAL1 Knockout A-549 Cell Line | EDJ-KQ29155 | Human | 6482 | Details Get a Quote |
| ST3GAL1 Knockout HCT 116 Cell Line | EDJ-KQ29156 | Human | 6482 | Details Get a Quote |
| ST3GAL1 Knockout HeLa Cell Line | EDJ-KQ29157 | Human | 6482 | Details Get a Quote |
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