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Literature summary extracted from

  • Bonardi, D.; Ravasio, V.; Borsani, G.; dAzzo, A.; Bresciani, R.; Monti, E.; Giacopuzzi, E.
    In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization (2014), PLoS ONE, 9, e104229.
    View publication on PubMedView publication on EuropePMC

Protein Variants

EC Number Protein Variants Comment Organism
3.2.1.18 D234N the mutation results in significantly lower levels of sialidase activity (25%) compared to the wild type and is associated with sialosis Homo sapiens
3.2.1.18 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

EC Number Localization Comment Organism GeneOntology No. Textmining
3.2.1.18 lysosome
-
 Homo sapiens 5764
-

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
3.2.1.18 46000
-
 x * 46000, SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.2.1.18 fetuin + H2O Homo sapiens
-
 ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.18 Homo sapiens Q99519
-
-

Posttranslational Modification

EC Number Posttranslational Modification Comment Organism
3.2.1.18 glycoprotein
-
 Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.18 4-methylumbelliferyl-alpha-D-N-acetylneuraminic acid + H2O
-
 Homo sapiens 4-methylumbelliferone + N-acetylneuraminic acid
-
 ?
3.2.1.18 fetuin + H2O
-
 Homo sapiens ?
-
 ?

Subunits

EC Number Subunits Comment Organism
3.2.1.18 ? x * 46000, SDS-PAGE Homo sapiens

Synonyms

EC Number Synonyms Comment Organism
3.2.1.18 NEU1
-
 Homo sapiens
3.2.1.18 neuraminidase
-
 Homo sapiens
3.2.1.18 sialidase
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
3.2.1.18 malfunction mutations in the NEU1 gene are causative of sialidosis, a severe lysosomal storage disorder showing autosomal recessive mode of inheritance Homo sapiens