ST8SIA1
ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1
Gene Information Card
| Symbol | ST8SIA1 |
|---|---|
| Full Name | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 6489 ncbi.nlm.nih.gov/gene/6489 |
| Ensembl ID | ENSG00000111728 |
| UniProt ID | Q92185 |
| OMIM ID | 601123 |
| HGNC ID | 10869 |
| Aliases | GD3S, SIAT8, SIAT8A, ST8SiaI |
Description
ST8SIA1 encodes a type II membrane protein, GD3 synthase, which catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to form GD3 ganglioside. This enzyme is a key regulator of ganglioside expression, particularly in neural tissues and cancer cells. GD3 is involved in cell adhesion, proliferation, and apoptosis modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Overexpression of ST8SIA1 leads to increased GD3, promoting tumor growth and metastasis via enhanced cell migration and invasion. | PMID: 21502544 |
| Melanoma | GD3 synthase upregulation correlates with malignant transformation and immune evasion. | PMID: 10611330 |
| Breast Cancer | ST8SIA1 expression is associated with poor prognosis and stem cell-like properties. | PMID: 24755413 |
| Huntington Disease | Altered ganglioside metabolism, including GD3, may contribute to neuronal dysfunction. | PMID: 21753189 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adrenal Gland | 8.3 | Medium |
| Testis | 6.1 | Medium |
| Lung | 2.4 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 9.8 | Medium expression |
| A375 (melanoma) | 11.5 | High expression |
| HEK293 (embryonic kidney) | 1.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103G>A (p.Gly35Arg) | Missense | <0.01% | Unknown functional effect |
| c.544C>T (p.Arg182Trp) | Missense | <0.01% | Potential loss of enzyme activity |
| c.788A>G (p.Asn263Ser) | Missense | <0.01% | Reported in COSMIC, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg182Trp) may reduce sialyltransferase activity, but no confirmed LOF mutations are clinically established.
Gain of Function (GOF)
No documented gain-of-function mutations in ST8SIA1.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • Golgi apparatus (GO:0005794) |
| • Golgi membrane (GO:0000139) | • glycosphingolipid biosynthetic process (GO:0006688) |
| • transferase activity (GO:0016757) |
Pathways
• Ganglioside biosynthesis (Reactome: R-HSA-1660662)
• Sphingolipid metabolism (KEGG: hsa00600)
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
Protein Summary
GD3 synthase (UniProt Q92185) is a 356-amino acid type II Golgi membrane protein. It catalyzes the addition of a second sialic acid residue to GM3 to form GD3, a key step in b-series ganglioside synthesis. The protein contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. GD3 is highly expressed in neural tissues and upregulated in several cancers, where it modulates signaling pathways including EGFR and integrin-mediated adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST8SIA1 Knockout HEK293 Cell Line | EDJ-KQ5749 | Human | 6489 | Details Get a Quote |
| ST8SIA1 Knockout A-549 Cell Line | EDJ-KQ29158 | Human | 6489 | Details Get a Quote |
| ST8SIA1 Knockout HeLa Cell Line | EDJ-KQ54469 | Human | 6489 | Details Get a Quote |
| ST8SIA1 Knockout HCT 116 Cell Line | EDJ-KQ71428 | Human | 6489 | Details Get a Quote |
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