ST6GAL1: ST6 Beta-Galactoside Alpha-2,6-Sialyltransferase 1
Key regulator of sialylation in immune function and cancer progression
Gene Information Card
| Symbol | ST6GAL1 |
|---|---|
| Full Name | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q27.3 |
| NCBI Gene ID | 6480 ncbi.nlm.nih.gov/gene/6480 |
| Ensembl ID | ENSG00000173868 |
| UniProt ID | P15907 |
| OMIM ID | 109675 |
| HGNC ID | 10860 |
| Aliases | ST6Gal I, SIAT1, CD75, ST6GalI |
Description
ST6GAL1 encodes a Golgi transmembrane sialyltransferase that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing acceptor substrates, forming alpha-2,6-linked sialic acid on N-glycans. This enzyme is critical for the synthesis of sialyl Lewis antigens and modulates cell-cell interactions, immune receptor signaling, and tumor cell adhesion. Expression is regulated during B cell differentiation and is altered in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Increased ST6GAL1 expression enhances sialylation of cell surface glycoproteins, promoting metastasis and immune evasion via Siglec interactions. | PMID: 25605274 |
| B-cell lymphoma | ST6GAL1-mediated sialylation of CD22 regulates B-cell receptor signaling and survival. | PMID: 20037586 |
| Acute myeloid leukemia | Aberrant sialylation by ST6GAL1 contributes to leukemic stem cell maintenance and drug resistance. | PMID: 29242213 |
| Immunodeficiency | Loss-of-function variants impair sialylation of immunoglobulins and lymphocyte receptors, leading to altered immune responses. | ClinVar: RCV000169792 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Colon | 9.8 | Medium |
| Lung | 7.2 | Low |
| Spleen | 15.3 | High |
| Bone marrow | 18.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 22.4 | High expression |
| HepG2 (liver) | 14.1 | Medium expression |
| A549 (lung) | 6.5 | Low expression |
| Raji (B-cell) | 28.7 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Reduced enzyme activity; associated with immunodeficiency |
| c.1286G>A (p.Arg429His) | Missense | <0.01% | Altered substrate specificity; reported in lymphoma |
| c.1543_1545del (p.Phe515del) | In-frame deletion | <0.01% | Loss of catalytic activity; rare |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg349Trp) reduce or abolish sialyltransferase activity, leading to defective sialylation of glycoproteins.
Gain of Function (GOF)
Overexpression or amplification in cancer leads to increased alpha-2,6-sialylation, enhancing tumor cell adhesion and immune evasion.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • protein glycosylation (GO:0006486) |
| • Golgi apparatus (GO:0005794) | • protein N-linked glycosylation via asparagine (GO:0016262) |
| • glycoprotein biosynthetic process (GO:0009101) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Sialic acid metabolism (Reactome: R-HSA-4085001)
Protein Summary
ST6GAL1 is a type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme transfers sialic acid in an alpha-2,6 linkage to terminal galactose residues on N-glycans. This modification is critical for the function of cell surface receptors, including CD22, integrins, and cytokine receptors. ST6GAL1 is highly expressed in B cells and hepatocytes, and its dysregulation is implicated in cancer progression, immune disorders, and inflammatory diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST6GAL1 Knockout HEK293 Cell Line | EDJ-KQ3167 | Human | 6480 | Details Get a Quote |
| ST6GAL1 Knockout A-549 Cell Line | EDJ-KQ24581 | Human | 6480 | Details Get a Quote |
| ST6GAL1 Knockout HCT 116 Cell Line | EDJ-KQ24582 | Human | 6480 | Details Get a Quote |
| ST6GAL1 Knockout HeLa Cell Line | EDJ-KQ54468 | Human | 6480 | Details Get a Quote |
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