ST3GAL3
ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3
Gene Information Card
| Symbol | ST3GAL3 |
|---|---|
| Full Name | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 6487 ncbi.nlm.nih.gov/gene/6487 |
| Ensembl ID | ENSG00000126091 |
| UniProt ID | Q11203 |
| OMIM ID | 606494 |
| HGNC ID | 10866 |
| Aliases | SIAT6, ST3GalIII, ST3N |
Description
ST3GAL3 encodes a Golgi membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates, producing alpha-2,3-linked sialic acid. This enzyme is involved in the biosynthesis of sialyl Lewis X and other sialylated glycoconjugates, playing a critical role in cell-cell interactions and neural development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 15 | Impaired sialylation of glycoproteins affecting neuronal excitability | ClinVar, OMIM |
| Intellectual disability, autosomal recessive 12 | Defective sialylation of glycoproteins disrupting synaptic function | OMIM |
| Congenital disorder of glycosylation type IIn | Loss of sialyltransferase activity leading to abnormal glycosylation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Lung | 5.9 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HEK293 | 9.8 | Embryonic kidney |
| HepG2 | 6.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1000C>T (p.Arg334*) | Nonsense | Rare | Loss of function |
| c.1139T>C (p.Leu380Pro) | Missense | Rare | Reduced enzyme activity |
| c.1270G>A (p.Gly424Arg) | Missense | Rare | Impaired substrate binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish or severely reduce sialyltransferase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • sialyltransferase activity (GO:0008373) | • Golgi apparatus (GO:0005794) |
| • protein glycosylation (GO:0006486) | • O-glycan processing (GO:0016266) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Sialic acid metabolism (Reactome: R-HSA-4085001)
Protein Summary
ST3GAL3 is a type II membrane protein localized to the Golgi apparatus. It transfers sialic acid to terminal galactose residues via an alpha-2,3 linkage. The enzyme is essential for the synthesis of sialyl Lewis X and other sialylated structures involved in cell adhesion and neural function. Mutations cause early infantile epileptic encephalopathy and intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ST3GAL3 Knockout HEK293 Cell Line | EDJ-KQ15527 | Human | 6487 | Details Get a Quote |
| ST3GAL3 Knockout A-549 Cell Line | EDJ-KQ46357 | Human | 6487 | Details Get a Quote |
| ST3GAL3 Knockout HCT 116 Cell Line | EDJ-KQ46358 | Human | 6487 | Details Get a Quote |
| ST3GAL3 Knockout HeLa Cell Line | EDJ-KQ46359 | Human | 6487 | Details Get a Quote |
| ST3GAL3 Knockout Hep-G2 Cell Line | EDJ-KZ494 | Human | 6487 | Details Get a Quote |
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