NEU1: Sialidase-1 Gene
Key regulator of lysosomal catabolism and immune function
Gene Information Card
| Symbol | NEU1 |
|---|---|
| Full Name | Neuraminidase 1 (lysosomal sialidase) |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.33 |
| NCBI Gene ID | 4758 ncbi.nlm.nih.gov/gene/4758 |
| Ensembl ID | ENSG00000124731 |
| UniProt ID | Q99519 |
| OMIM ID | 608272 |
| HGNC ID | 7758 |
| Aliases | SIAL1, NANH, NEU, G9 sialidase |
Description
The NEU1 gene encodes lysosomal sialidase-1 (neuraminidase-1), an enzyme that cleaves terminal sialic acid residues from glycoproteins and glycolipids. It forms a multi-enzyme complex with beta-galactosidase and cathepsin A (protective protein) in lysosomes. NEU1 is essential for cellular catabolism, immune regulation, and elastin receptor function. Mutations cause sialidosis (types I and II) and contribute to galactosialidosis when combined with cathepsin A deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sialidosis type I (mild, late-onset) | Deficient sialidase activity leads to accumulation of sialyloligosaccharides in lysosomes | ClinVar, OMIM #256550 |
| Sialidosis type II (severe, infantile/juvenile) | Near-complete loss of sialidase function; severe lysosomal storage in multiple tissues | ClinVar, OMIM #256550 |
| Galactosialidosis (combined deficiency) | Secondary NEU1 deficiency due to cathepsin A (CTSA) mutations disrupting the protective complex | OMIM #256540 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in kidney-derived line |
| HeLa | 9.8 | Moderate expression |
| K-562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544A>G (p.Thr182Ala) | Missense | Common in sialidosis type I | Reduced enzyme activity |
| c.679G>A (p.Gly227Arg) | Missense | Found in sialidosis type II | Severe loss of function |
| c.914C>T (p.Pro305Leu) | Missense | Reported in galactosialidosis | Disrupts complex formation |
Mutation functional classification
Loss of Function (LOF)
Most NEU1 mutations cause partial or complete loss of sialidase activity, leading to lysosomal storage.
Gain of Function (GOF)
Not reported for NEU1.
Dominant Negative (DN)
Not reported; NEU1 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • exo-alpha-sialidase activity (GO:0004308) | • lysosome (GO:0005764) |
| • ganglioside catabolic process (GO:0006689) | • inclusion body (GO:0016234) |
| • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Lysosome (KEGG hsa04142)
• Sphingolipid metabolism (KEGG hsa00600)
• Glycosphingolipid biosynthesis – ganglio series (KEGG hsa00604)
Protein Summary
Sialidase-1 (NEU1) is a 415-amino-acid lysosomal glycoprotein that removes sialic acid from glycoconjugates. It requires association with cathepsin A (CTSA) and beta-galactosidase for stability and activity. NEU1 also participates in cell surface signaling via the elastin receptor complex and modulates immune responses by desialylating Toll-like receptors. Deficiency leads to sialidosis, characterized by progressive neurological decline, myoclonus, cherry-red spots, and skeletal abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEU1 Knockout HEK293 Cell Line | EDJ-KQ3696 | Human | 4758 | Details Get a Quote |
| NEU1 Knockout HeLa Cell Line | EDJ-KQ24336 | Human | 4758 | Details Get a Quote |
| NEU1 Knockout A-549 Cell Line | EDJ-KQ25708 | Human | 4758 | Details Get a Quote |
| NEU1 Knockout HCT 116 Cell Line | EDJ-KQ25709 | Human | 4758 | Details Get a Quote |
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