NEU3: Sialidase 3 (Membrane Sialidase)
Key regulator of ganglioside metabolism and cell signaling
Gene Information Card
| Symbol | NEU3 |
|---|---|
| Full Name | Sialidase 3 (membrane sialidase) |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 10825 ncbi.nlm.nih.gov/gene/10825 |
| Ensembl ID | ENSG00000162139 |
| UniProt ID | Q9UQ49 |
| OMIM ID | 604617 |
| HGNC ID | 7760 |
| Aliases | SIAL3, sialidase-3, membrane sialidase |
Description
NEU3 encodes a membrane-bound sialidase that hydrolyzes sialic acid residues from glycoproteins and glycolipids, particularly gangliosides. It is involved in cell adhesion, differentiation, and signal transduction. NEU3 is widely expressed and its dysregulation is linked to cancer progression, diabetes, and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (colorectal, renal, prostate) | Overexpression of NEU3 alters ganglioside composition, promoting cell proliferation and invasion | PMID: 15988092, PMID: 17050663 |
| Type 2 diabetes | NEU3 modulates insulin signaling via desialylation of insulin receptor | PMID: 17327220 |
| Alzheimer's disease | Altered sialidase activity affects amyloid-beta metabolism and neuronal survival | PMID: 22956769 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Colon | 15.2 | Medium |
| Prostate | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells |
| HeLa | 22.1 | Cervical cancer cells |
| HepG2 | 14.7 | Liver cancer cells |
| MCF7 | 9.8 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544G>A (p.Gly182Arg) | Missense | Rare | Reduced sialidase activity in vitro |
| c.1003C>T (p.Arg335Trp) | Missense | Rare | Unknown functional effect |
| c.1282G>A (p.Glu428Lys) | Missense | Rare | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly182Arg) reduce enzymatic activity, impairing ganglioside catabolism.
Gain of Function (GOF)
Not well documented; overexpression in cancer suggests possible gain-of-function in tumorigenesis.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • exo-alpha-sialidase activity (GO:0004308) | • ganglioside catabolic process (GO:0006689) |
| • membrane (GO:0016020) | • plasma membrane (GO:0005886) |
| • glycosphingolipid metabolic process (GO:0006688) |
Pathways
• Ganglioside metabolism (Reactome: R-HSA-1660662)
• Sphingolipid metabolism (KEGG: hsa00600)
Protein Summary
NEU3 is a 428-amino acid membrane sialidase localized to the plasma membrane. It preferentially cleaves alpha-2,3- and alpha-2,6-linked sialic acids from gangliosides, producing lactosylceramide. The protein contains a conserved sialidase domain and is involved in cell signaling, adhesion, and differentiation. Its expression is upregulated in several cancers and contributes to malignant phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEU3 Knockout HEK293 Cell Line | EDJ-KQ7182 | Human | 10825 | Details Get a Quote |
| NEU3 Knockout A-549 Cell Line | EDJ-KQ32115 | Human | 10825 | Details Get a Quote |
| NEU3 Knockout HeLa Cell Line | EDJ-KQ32117 | Human | 10825 | Details Get a Quote |
| NEU3 Knockout HCT 116 Cell Line | EDJ-KQ30740 | Human | 10825 | Details Get a Quote |
