ST8SIA6 Gene - ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 6
Comprehensive genomic and functional annotation of ST8SIA6, a sialyltransferase involved in ganglioside biosynthesis and cancer biology.
Gene Information Card
| Symbol | ST8SIA6 |
|---|---|
| Full Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 338596 ncbi.nlm.nih.gov/gene/338596 |
| Ensembl ID | ENSG00000148400 |
| UniProt ID | Q6P9A1 |
| OMIM ID | 610139 |
| HGNC ID | 23369 |
| Aliases | SIAT8F, ST8SiaVI, GD3 synthase-like |
Description
ST8SIA6 encodes a member of the glycosyltransferase family 29 (sialyltransferases). The encoded protein catalyzes the transfer of sialic acid from CMP-sialic acid to the terminal sialic acid of glycoproteins and glycolipids, forming alpha-2,8 linkages. It is involved in the biosynthesis of gangliosides, particularly GD3 and GT3, and plays a role in cell-cell recognition, adhesion, and signaling. Expression is enriched in brain and testis, and dysregulation is associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered sialylation of cell surface glycans promotes tumor progression and metastasis. | COSMIC; PubMed studies |
| Colorectal cancer | Overexpression of ST8SIA6 correlates with poor prognosis and increased metastatic potential. | PubMed; COSMIC |
| Glioblastoma | Upregulation of GD3 synthase activity linked to enhanced tumor growth. | PubMed; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Adrenal gland | 5.1 | Low |
| Thyroid | 4.2 | Low |
| Lung | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 22.1 | Neuronal cell line, high expression |
| HeLa | 3.4 | Low expression |
| HepG2 | 1.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Unknown functional effect |
| c.1237C>T (p.Arg413Trp) | Missense | <0.01% | Unknown functional effect |
| c.1462_1463insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertions (e.g., c.1462_1463insA) are predicted to truncate the protein and abolish enzymatic activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ganglioside biosynthesis (Reactome: R-HSA-1660662)
• Sphingolipid metabolism (KEGG: hsa00600)
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
Protein Summary
ST8SIA6 is a type II membrane protein localized to the Golgi apparatus. It functions as a sialyltransferase that adds sialic acid in alpha-2,8 linkage to glycoconjugates. The protein is 375 amino acids long with a single transmembrane domain and a catalytic domain facing the Golgi lumen. It is essential for the synthesis of b- and c-series gangliosides, which are abundant in neural tissues and implicated in cell differentiation and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST8SIA6 Knockout HEK293 Cell Line | EDJ-KQ14755 | Human | 338596 | Details Get a Quote |
| ST8SIA6 Knockout HCT 116 Cell Line | EDJ-KQ46363 | Human | 338596 | Details Get a Quote |
| ST8SIA6 Knockout HeLa Cell Line | EDJ-KQ59615 | Human | 338596 | Details Get a Quote |
| ST8SIA6 Knockout A-549 Cell Line | EDJ-KQ68080 | Human | 338596 | Details Get a Quote |
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