Literature summary for 3.2.1.18 extracted from

Lukong, K.E.; Seyrantepe, V.; Landry, K.; Trudel, S.; Ahmad, A.; Gahl, W.A.; Lefrancois, S.; Morales, C.R.; Pshezhetsky, A.V.
Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail (2001), J. Biol. Chem., 276, 46172-46181.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene neu-1 located in the major histocompatibility complex locus, expression of wild-type and mutant in COS-7 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G413A	site-directed mutagenesis, activity and localization in the cell similar to the wild-type enzyme	Homo sapiens
L415A	site-directed mutagenesis, 30-50% reduced activity compared to the wild-type enzyme, no internalization due to impaired endocytosis, location in the plasma membrane and the cytosol	Homo sapiens
Y412A	site-directed mutagenesis, 55-70% reduced activity compared to the wild-type enzyme, no internalization due to impaired endocytosis, location in the plasma membrane and the cytosol	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
endosome	-	Homo sapiens	5768	-
lysosome	major part	Homo sapiens	5764	-
membrane	-	Homo sapiens	16020	-
additional information	intracellular distribution, enzyme contains a signal for internalization in form of a C-terminal tetrapeptide Y412GTL415, Y412 and L415 are essential for endocytosis of the enzyme, mechanism, targeting from lysosomal membrane to endosomes via clathrin-coated pits, enzyme pattern in AP3-deficient cells	Homo sapiens	-	-
plasma membrane	T-lymphocyte surface, minor part	Homo sapiens	5886	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	enzyme is required for cellular signaling and for the production of cytokine interleukin-4 by activated T-lymphocytes, inherited enzyme defiency results in sialidosis or galactosialidosis, both severe metaboic disorders associated with lysosomal storage of oligosaccharides and glycopeptides	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	gene neu-1	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
liver	-	Homo sapiens	-
T-lymphocyte	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	enzyme is required for cellular signaling and for the production of cytokine interleukin-4 by activated T-lymphocytes, inherited enzyme defiency results in sialidosis or galactosialidosis, both severe metaboic disorders associated with lysosomal storage of oligosaccharides and glycopeptides	Homo sapiens	?	-	?

Subunits

Subunits	Comment	Organism
?	x * 46000-48000, SDS-PAGE	Homo sapiens

Synonyms

Synonyms	Comment	Organism
neuraminidase	-	Homo sapiens
sialidase	-	Homo sapiens

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Release 2023.1 (January 2023)