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Literature summary for 3.2.1.18 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

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

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

Molecular Weight [Da]

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens Q99519
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein
-
Homo sapiens

Substrates and Products (Substrate)

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

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

Synonyms

Synonyms Comment Organism
NEU1
-
Homo sapiens
neuraminidase
-
Homo sapiens
sialidase
-
Homo sapiens

General Information

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