ST8SIA4
ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 4
Gene Information Card
| Symbol | ST8SIA4 |
|---|---|
| Full Name | ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q21.1 |
| NCBI Gene ID | 7903 ncbi.nlm.nih.gov/gene/7903 |
| Ensembl ID | ENSG00000113532 |
| UniProt ID | Q92187 |
| OMIM ID | 602547 |
| HGNC ID | 10870 |
| Aliases | PST, PST1, SIAT8D, ST8SiaIV |
Description
ST8SIA4 encodes a member of the glycosyltransferase family 29, specifically an alpha-2,8-sialyltransferase that catalyzes the transfer of sialic acid from CMP-sialic acid to N- and O-glycans. This enzyme is primarily responsible for the synthesis of polysialic acid (polySia) on the neural cell adhesion molecule (NCAM), a modification critical for neural development, cell migration, and synaptic plasticity. The gene is also implicated in cancer progression and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | Polysialylation of NCAM promotes tumor cell migration and metastasis | PMID: 12526812 |
| Schizophrenia | Altered polysialic acid expression on NCAM affects neurodevelopment | PMID: 16936799 |
| Breast Cancer | ST8SIA4 overexpression correlates with poor prognosis and metastasis | PMID: 21799892 |
| Colorectal Cancer | Increased ST8SIA4 expression enhances tumor invasiveness | PMID: 23359663 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 4.2 | Medium |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| A549 (lung carcinoma) | 6.7 | Moderate expression |
| MCF7 (breast cancer) | 8.9 | Moderate expression |
| HEK293 (embryonic kidney) | 1.2 | Low expression |
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 functional effect |
| c.1286G>A (p.Arg429His) | Missense | <0.01% | Unknown functional effect |
| c.1573C>T (p.Arg525Cys) | Missense | <0.01% | Unknown functional effect |
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) | • cell adhesion (GO:0007155) |
| • nervous system development (GO:0007399) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
• NCAM1 interactions (Reactome: R-HSA-419037)
Protein Summary
ST8SIA4 is a type II membrane protein localized to the Golgi apparatus. It catalyzes the addition of alpha-2,8-linked sialic acid residues to glycoproteins and glycolipids, with a primary substrate being NCAM. The enzyme is essential for polysialic acid synthesis, which modulates cell-cell interactions, neural plasticity, and tumor metastasis. The protein contains a sialyltransferase domain (Pfam: PF00777) and is highly expressed in brain and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST8SIA4 Knockout HEK293 Cell Line | EDJ-KQ6142 | Human | 7903 | Details Get a Quote |
| ST8SIA4 Knockout A-549 Cell Line | EDJ-KQ29930 | Human | 7903 | Details Get a Quote |
| ST8SIA4 Knockout HeLa Cell Line | EDJ-KQ54804 | Human | 7903 | Details Get a Quote |
| ST8SIA4 Knockout HCT 116 Cell Line | EDJ-KQ71763 | Human | 7903 | Details Get a Quote |
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