InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEU1

Summary

InnateDB Protein

IDBP-79400.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NEU1

Protein Name

sialidase 1 (lysosomal sialidase)

Synonyms

NANH; NEU; SIAL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000364782

InnateDB Gene

IDBG-79398 (NEU1)

Protein Structure

UniProt Annotation

Function

Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moities from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. {ECO:0000269PubMed:8985184}.

Subcellular Localization

Lysosome membrane; Peripheral membrane protein; Lumenal side. Lysosome lumen. Cell membrane. Cytoplasmic vesicle. Note=Localized not only on the inner side of the lysosomal membrane and in the lysosomal lumen, but also on the plasma membrane and in intracellular vesicles.

Disease Associations

Sialidosis (SIALIDOSIS) [MIM:256550]: Lysosomal storage disease occurring as two types with various manifestations. Type 1 sialidosis (cherry red spot-myoclonus syndrome or normosomatic type) is late-onset and it is characterized by the formation of cherry red macular spots in childhood, progressive debilitating myoclonus, insiduous visual loss and rarely ataxia. The diagnosis can be confirmed by the screening of the urine for sialyloligosaccharides. Type 2 sialidosis (also known as dysmorphic type) occurs as several variants of increasing severity with earlier age of onset. It is characterized by the presence of abnormal somatic features including coarse facies and dysostosis multiplex, vertebral deformities, mental retardation, cherry-red spot/myoclonus, sialuria, cytoplasmic vacuolation of peripheral lymphocytes, bone marrow cells and conjunctival epithelial cells. {ECO:0000269PubMed:10944856, ECO:0000269PubMed:11063730, ECO:0000269PubMed:11279074, ECO:0000269PubMed:11829139, ECO:0000269PubMed:14695530, ECO:0000269PubMed:8985184, ECO:0000269PubMed:9054950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in pancreas, followed by skeletal muscle, kidney, placenta, heart, lung and liver. Weakly expressed in brain. {ECO:0000269PubMed:8985184, ECO:0000269PubMed:9054950}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	17 [view]
Protein-Protein	16 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004308	exo-alpha-sialidase activity
GO:0005515	protein binding
GO:0052794	exo-alpha-(2->3)-sialidase activity
GO:0052795	exo-alpha-(2->6)-sialidase activity
GO:0052796	exo-alpha-(2->8)-sialidase activity

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0009313	oligosaccharide catabolic process
GO:0016042	lipid catabolic process
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)

Cellular Component

GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030054	cell junction
GO:0043202	lysosomal lumen
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome