ST6GALNAC3: ST6 N-Acetylgalactosaminide Alpha-2,6-Sialyltransferase 3
A sialyltransferase involved in ganglioside biosynthesis and implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | ST6GALNAC3 |
|---|---|
| Full Name | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 256435 ncbi.nlm.nih.gov/gene/256435 |
| Ensembl ID | ENSG00000184349 |
| UniProt ID | Q8NFP9 |
| OMIM ID | 610136 |
| HGNC ID | 23317 |
| Aliases | SIAT7C, ST6GalNAcIII, ST6GALNACIII |
Description
ST6GALNAC3 encodes a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to N-acetylgalactosamine (GalNAc) residues on glycoproteins and glycolipids, specifically forming alpha-2,6 linkages. This enzyme is involved in the biosynthesis of gangliosides, particularly GD1a and GT1b, which are important for neuronal function and cell-cell interactions. The gene is expressed in various tissues, with highest levels in brain, testis, and placenta. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of ST6GALNAC3 may affect ganglioside composition on cell surfaces, influencing cell adhesion, migration, and tumor progression. | COSMIC; literature (e.g., PMID: 23455423) |
| Neurological disorders | Gangliosides are critical for neuronal development and function; dysregulation of ST6GALNAC3 may contribute to neurodevelopmental or neurodegenerative conditions. | OMIM #610136; literature (e.g., PMID: 15689429) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Placenta | 6.1 | Low |
| Lung | 2.4 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 3.1 | Low expression |
| MCF7 (breast cancer) | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; predicted damaging by SIFT |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • sialyltransferase activity (GO:0008373) | • Golgi apparatus (GO:0005794) |
| • protein glycosylation (GO:0006486) | • ganglioside biosynthetic process (GO:0001573) |
| • integral component of membrane (GO:0016021) |
Pathways
• Ganglioside biosynthesis (Reactome: R-HSA-1660662)
• Sialic acid metabolism (KEGG: hsa00520)
Protein Summary
ST6GALNAC3 is a 302-amino acid 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 to GalNAc residues on glycoconjugates, playing a key role in the synthesis of complex gangliosides such as GD1a and GT1b. Its expression is tissue-specific and developmentally regulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST6GALNAC3 Knockout HEK293 Cell Line | EDJ-KQ2432 | Human | 256435 | Details Get a Quote |
| ST6GALNAC3 Knockout HCT 116 Cell Line | EDJ-KQ22942 | Human | 256435 | Details Get a Quote |
| ST6GALNAC3 Knockout HeLa Cell Line | EDJ-KQ59304 | Human | 256435 | Details Get a Quote |
| ST6GALNAC3 Knockout A-549 Cell Line | EDJ-KQ67771 | Human | 256435 | Details Get a Quote |
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