InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GNS

Summary

InnateDB Protein

IDBP-45089.5

Last Modified

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

Gene Symbol

GNS

Protein Name

glucosamine (N-acetyl)-6-sulfatase

Synonyms

G6S;

Species

Homo sapiens

Ensembl Protein

ENSP00000258145

InnateDB Gene

IDBG-45087 (GNS)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 3D (MPS3D) [MIM:252940]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269PubMed:12573255, ECO:0000269PubMed:20232353}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.

Experimentally validated
Total	23 [view]
Protein-Protein	20 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0005515	protein binding
GO:0008449	N-acetylglucosamine-6-sulfatase activity
GO:0008484	sulfuric ester hydrolase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0008152	metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0042339	keratan sulfate metabolic process
GO:0042340	keratan sulfate catabolic process
GO:0044281	small molecule metabolic process