ST6GALNAC6: ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 6
Key enzyme in ganglioside biosynthesis and cancer-associated glycosylation
Gene Information Card
| Symbol | ST6GALNAC6 |
|---|---|
| Full Name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 30815 ncbi.nlm.nih.gov/gene/30815 |
| Ensembl ID | ENSG00000107147 |
| UniProt ID | Q9H4F1 |
| OMIM ID | 610136 |
| HGNC ID | 11426 |
| Aliases | SIAT7F, ST6GalNAcVI, GD1a synthase |
Description
ST6GALNAC6 encodes a Golgi membrane-bound sialyltransferase that catalyzes the transfer of sialic acid from CMP-sialic acid to N-acetylgalactosamine (GalNAc) residues on glycoproteins and glycolipids. It is specifically involved in the biosynthesis of ganglioside GD1a from GM1b and plays a role in cell-cell recognition, adhesion, and signaling. The enzyme is expressed in various tissues, with highest levels in brain, kidney, and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered glycosylation patterns; overexpression may promote tumor progression | PMID: 23434567, COSMIC |
| Neurodevelopmental disorders | Potential role in ganglioside metabolism affecting neuronal function | Inferred from OMIM 610136 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.7 | Medium |
| Liver | 2.1 | Low |
| Lung | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 10.8 | Neuronal cell line |
| HeLa | 4.3 | Moderate expression |
| HepG2 | 1.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.1% | Unknown functional impact |
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce sialyltransferase activity, affecting ganglioside synthesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • Golgi apparatus (GO:0005794) |
| • glycosphingolipid biosynthetic process (GO:0006688) | • transferase activity (GO:0016757) |
| • Golgi membrane (GO:0000139) |
Pathways
• KEGG:00601 - Glycosphingolipid biosynthesis - lacto and neolacto series
• KEGG:00603 - Glycosphingolipid biosynthesis - globo and isoglobo series
• Reactome:R-HSA-1660662 - Glycosphingolipid metabolism
Protein Summary
ST6GALNAC6 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 specifically adds sialic acid in an alpha-2,6 linkage to GalNAc residues, with a preference for ganglioside GM1b as substrate, producing GD1a. Its activity is critical for the synthesis of complex gangliosides involved in neural development and cancer cell behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST6GALNAC6 Knockout HEK293 Cell Line | EDJ-KQ9179 | Human | 30815 | Details Get a Quote |
| ST6GALNAC6 Knockout A-549 Cell Line | EDJ-KQ35723 | Human | 30815 | Details Get a Quote |
| ST6GALNAC6 Knockout HCT 116 Cell Line | EDJ-KQ35724 | Human | 30815 | Details Get a Quote |
| ST6GALNAC6 Knockout HeLa Cell Line | EDJ-KQ35725 | Human | 30815 | Details Get a Quote |
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