ST8SIA3: ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 3
A sialyltransferase involved in ganglioside biosynthesis and neural development.
Gene Information Card
| Symbol | ST8SIA3 |
|---|---|
| Full Name | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 51046 ncbi.nlm.nih.gov/gene/51046 |
| Ensembl ID | ENSG00000177570 |
| UniProt ID | Q9H4F1 |
| OMIM ID | 608115 |
| HGNC ID | 10869 |
| Aliases | SIAT8C, ST8SiaIII, GD3S, GT3S |
Description
ST8SIA3 encodes a member of the glycosyltransferase family 29, specifically a sialyltransferase that catalyzes the transfer of sialic acid from CMP-sialic acid to acceptor substrates. This enzyme is responsible for the synthesis of gangliosides GD3 and GT3, which are critical for neural cell differentiation, axon growth, and synaptic plasticity. Expression is predominantly in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ganglioside storage disorders (e.g., GM1 gangliosidosis, Sandhoff disease) | Altered ganglioside metabolism due to dysregulation of ST8SIA3 activity may contribute to substrate accumulation. | Inferred from pathway involvement; direct evidence limited. |
| Neuroblastoma | Overexpression of ST8SIA3 leads to increased GD3 synthesis, promoting tumor cell proliferation and migration. | COSMIC; PMID: 21947068 |
| Colorectal cancer | Aberrant ST8SIA3 expression correlates with poor prognosis and altered sialylation patterns. | COSMIC; PMID: 25695633 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Adrenal gland | 3.1 | Low |
| Lung | 1.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neural differentiation studies |
| SK-N-SH (neuroblastoma) | 11.8 | High expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
| HeLa (cervical carcinoma) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.104C>T (p.Pro35Leu) | missense | <0.01% | Unknown significance; not in ClinVar |
| c.682G>A (p.Gly228Arg) | missense | <0.01% | Unknown significance; not in ClinVar |
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) |
| • nervous system development (GO:0007399) |
Pathways
• Ganglioside biosynthesis (Reactome: R-HSA-1660662)
• Sphingolipid metabolism (KEGG: hsa00600)
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
Protein Summary
ST8SIA3 is a 375-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the alpha-2,8-sialylation of GM3 to form GD3, and of GD3 to form GT3. The protein contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. Its expression is tightly regulated during neural development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST8SIA3 Knockout HEK293 Cell Line | EDJ-KQ10890 | Human | 51046 | Details Get a Quote |
| ST8SIA3 Knockout HeLa Cell Line | EDJ-KQ56218 | Human | 51046 | Details Get a Quote |
| ST8SIA3 Knockout A-549 Cell Line | EDJ-KQ64709 | Human | 51046 | Details Get a Quote |
| ST8SIA3 Knockout HCT 116 Cell Line | EDJ-KQ73155 | Human | 51046 | Details Get a Quote |
