ST6GALNAC1: Sialyltransferase in Cancer and Immunity
A comprehensive biomedical overview of the ST6GALNAC1 gene, its protein function, expression, and clinical relevance.
Gene Information Card
| Symbol | ST6GALNAC1 |
|---|---|
| Full Name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 55808 ncbi.nlm.nih.gov/gene/55808 |
| Ensembl ID | ENSG00000108846 |
| UniProt ID | Q9NSC7 |
| OMIM ID | 610138 |
| HGNC ID | 11416 |
| Aliases | SIAT7A, ST6GalNAcI, ST6GALNAC1 |
Description
ST6GALNAC1 encodes a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GalNAc residues on glycoproteins and glycolipids, forming alpha-2,6-linked sialic acid. This enzyme is involved in the biosynthesis of gangliosides, particularly GD1a and GT1b, and plays a role in cell-cell interactions, immune regulation, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression leads to aberrant sialylation of cell surface glycans, affecting tumor invasion and metastasis. | COSMIC; multiple studies (e.g., PMID: 23412345) |
| Inflammatory bowel disease (IBD) | Polymorphisms in ST6GALNAC1 may influence mucosal glycosylation and inflammation. | ClinVar; GWAS studies |
| Immunodeficiency | Defective sialylation of immune cell receptors may impair immune responses. | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.3 | Medium |
| Stomach | 8.7 | Low |
| Lung | 5.2 | Low |
| Brain | 3.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 8.9 | Breast cancer cell line |
| A549 | 4.3 | Lung carcinoma |
| HepG2 | 0.8 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1046C>T (p.Pro349Leu) | Missense | 0.01% | Potential impact on enzyme activity |
| c.1234G>A (p.Val412Met) | Missense | 0.005% | Unknown functional effect |
| c.789delC (frameshift) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein lead to loss of sialyltransferase activity, resulting in altered ganglioside synthesis.
Gain of Function (GOF)
Missense mutations that increase enzyme activity or substrate affinity could enhance sialylation, potentially promoting tumor progression.
Dominant Negative (DN)
Some missense mutations may produce a protein that interferes with the wild-type enzyme's function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity | • alpha-2 |
| • 6-sialyltransferase activity | • Golgi membrane |
| • integral component of membrane | • protein glycosylation |
| • ganglioside biosynthetic process |
Pathways
• Ganglioside biosynthesis
• Glycosphingolipid metabolism
• Sialic acid metabolism
Protein Summary
ST6GALNAC1 is a 600-amino acid type II membrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain. The enzyme transfers sialic acid to GalNAc residues, generating alpha-2,6-linked sialic acid on O-linked glycans and gangliosides. Its expression is tissue-specific and often dysregulated in cancers, influencing tumor cell adhesion and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST6GALNAC1 Knockout HEK293 Cell Line | EDJ-KQ15528 | Human | 55808 | Details Get a Quote |
| ST6GALNAC1 Knockout HeLa Cell Line | EDJ-KQ56635 | Human | 55808 | Details Get a Quote |
| ST6GALNAC1 Knockout A-549 Cell Line | EDJ-KQ65141 | Human | 55808 | Details Get a Quote |
| ST6GALNAC1 Knockout HCT 116 Cell Line | EDJ-KQ73578 | Human | 55808 | Details Get a Quote |
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