Neuraminidase (NEU)

NEU1; SIAL1; Sialidase 1; Lysosomal Sialidase; Acetylneuraminyl hydrolase; G9 sialidase; N-acetyl-alpha-neuraminidase 1

SPN	V224
HGNC	7758
MGI	97305
PubMed	19666987
RGD	3163
UniProt	Q99519
Wiki	NEU

Neuraminidase, or lysosomal sialidase , has a dual physiologic function: it participates in intralysosomal catabolism of sialated glycoconjugates and is involved in cellular immune response. The enzyme occurs in a complex with beta-galactosidase (GLB1) and protective protein/cathepsin A (CTSA).The cDNA predicted a 415-amino acid protein showing extensive homology to other mammalian and bacterial neuraminidases. After the cleavage of a 47-amino acid N-terminal signal peptide and glycosylation, it becomes a 48.3-kD mature active enzyme similar to that found in the multienzyme lysosomal complex. Transient expression of cDNA in deficient human fibroblasts showed that the enzyme is compartmentalized in lysosomes and restores neuraminidase activity in a PPCA-dependent manner.

Reference

"Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis."
Genes Dev. 10:3156-3169(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of a sialidase encoded in the human major histocompatibility complex."
J. Biol. Chem. 272:4549-4558(1997) [PubMed] [Europe PMC] [Abstract]

"Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis."
Nat. Genet. 15:316-320(1997) [PubMed] [Europe PMC] [Abstract]

"Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse."
Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation."
Biochem. J. 330:641-650(1998) [PubMed] [Europe PMC] [Abstract]

"Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail."
J. Biol. Chem. 276:46172-46181(2001) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex."
Hum. Mol. Genet. 9:1075-1085(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis."
Hum. Mol. Genet. 9:2715-2725(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular and structural studies of Japanese patients with sialidosis type 1."
J. Hum. Genet. 45:241-249(2000) [PubMed] [Europe PMC] [Abstract]

"Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex."
J. Biol. Chem. 276:17286-17290(2001) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes."
J. Hum. Genet. 47:29-37(2002) [PubMed] [Europe PMC] [Abstract]

"Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression."
Hum. Mutat. 23:32-39(2004) [PubMed] [Europe PMC] [Abstract]