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sialidase-1; acetylneuraminyl hydrolase; G9 sialidase; lysosomal sialidase; N-acetyl-alpha-neuraminidase 1 (NEU1, NANH)

Function: - catalyzes removal of sialic acid (N-acetylneuramic acid) moities from glycoproteins & glycolipids - activity dependent on its presence in the multienzyme complex - appears to have a preference for alpha 2-3 & alpha 2-6 sialyl linkage - hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha-(2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid & synthetic substrates - phosphorylation of Tyr within the internalization signal results in inhibition of sialidase internalization & persistence on the plasma membrane - interacts with other proteins in a multienzyme complex - cathepsin A (protective protein) - beta-galactosidase - N-acetylgalactosamine-6-sulfate sulfatase Kinetic parameters: - pH dependence: optimum pH is 4.6 Structure: - N-glycosylated - a C-terminal internalization signal (YGTL) appears to allow targeting of plasma membrane proteins to endosomes - belongs to the glycosyl hydrolase 33 family - contains 4 BNR repeats Compartment: - lysosome membrane, lumenal side; lysosome lumen - plasma membrane, cytoplasmic vesicle Expression: - expressed in pancreas > skeletal muscle, kidney, placenta, heart, lung & liver - weakly expressed in brain Pathology: - defects in NEU1 are the cause of sialidosis

General

glycoprotein phosphoprotein sialidase

Properties

SIZE: entity length = 415 aa MW = 45 kD COMPARTMENT: lysosome cytoplasm MOTIF: signal sequence {1-47} FRIP {77-80} MOTIF: binding site SITE: 78-78 FOR-BINDING-OF: Substrate aspartate residue {D103} BNR {112-123} BNR {172-183} N-glycosylation site {N186} BNR {231-242} MOTIF: Tyr phosphorylation site {Y242} Ser phosphorylation site {S244} Tyr phosphorylation site {Y251} binding site SITE: 280-280 FOR-BINDING-OF: Substrate binding site SITE: 341-341 FOR-BINDING-OF: Substrate N-glycosylation site {N343} BNR {347-358} MOTIF: N-glycosylation site {N352} tyrosine residue {Y370} glutamate residue {E394} Internalization signal {412-415}

Database Correlations

OMIM correlations MORBIDMAP 608272 UniProt Q99519 Entrez Gene 4758 Kegg hsa:4758 ENZYME 3.2.1.1

References

  1. UniProt :accession Q99519
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NEU1
  3. Wikipedia; Note: neuraminidase entry http://en.wikipedia.org/wiki/neuraminidase