InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGSH

Summary

InnateDB Protein

IDBP-71562.6

Last Modified

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

Gene Symbol

SGSH

Protein Name

N-sulfoglucosamine sulfohydrolase

Synonyms

HSS; MPS3A; SFMD;

Species

Homo sapiens

Ensembl Protein

ENSP00000314606

InnateDB Gene

IDBG-71560 (SGSH)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 3A (MPS3A) [MIM:252900]: A severe 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. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. {ECO:0000269PubMed:11182930, ECO:0000269PubMed:11793481, ECO:0000269PubMed:12000360, ECO:0000269PubMed:12702166, ECO:0000269PubMed:15146460, ECO:0000269PubMed:15637719, ECO:0000269PubMed:15902564, ECO:0000269PubMed:16311287, ECO:0000269PubMed:17128482, ECO:0000269PubMed:18407553, ECO:0000269PubMed:21671382, ECO:0000269PubMed:9158154, ECO:0000269PubMed:9285796, ECO:0000269PubMed:9401012, ECO:0000269PubMed:9554748, ECO:0000269PubMed:9744479}. 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 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
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:0008484	sulfuric ester hydrolase activity
GO:0016250	N-sulfoglucosamine sulfohydrolase activity
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0006029	proteoglycan metabolic process
GO:0008152	metabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000917 Sulfatase
IPR002591 Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
IPR017850 Alkaline-phosphatase-like, core domain

PFAM

PF00884
PF01663

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P51688

PhosphoSite