Protein Variants | Comment | Organism |
---|---|---|
D234N | the mutation results in significantly lower levels of sialidase activity (25%) compared to the wild type and is associated with sialosis | Homo sapiens |
V217A | the mutation results in significantly lower levels of sialidase activity (44%) compared to the wild type and is associated with sialosis | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
46000 | - |
x * 46000, SDS-PAGE | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
fetuin + H2O | Homo sapiens | - |
? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q99519 | - |
- |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | - |
Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-alpha-D-N-acetylneuraminic acid + H2O | - |
Homo sapiens | 4-methylumbelliferone + N-acetylneuraminic acid | - |
? | |
fetuin + H2O | - |
Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
? | x * 46000, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
NEU1 | - |
Homo sapiens |
neuraminidase | - |
Homo sapiens |
sialidase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the NEU1 gene are causative of sialidosis, a severe lysosomal storage disorder showing autosomal recessive mode of inheritance | Homo sapiens |