Homo sapiens Gene: SGSH
Summary
InnateDB Gene IDBG-71560.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SGSH
Gene Name N-sulfoglucosamine sulfohydrolase
Synonyms HSS; MPS3A; SFMD;
Species Homo sapiens
Ensembl Gene ENSG00000181523
Encoded Proteins
N-sulfoglucosamine sulfohydrolase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:80206716-80220923
Strand Reverse strand
Band q25.3
Transcripts
ENST00000326317 ENSP00000314606
ENST00000574505 ENSP00000459708
ENST00000575484
ENST00000576856 ENSP00000460720
ENST00000572208
ENST00000575188
ENST00000570427 ENSP00000459765
ENST00000576941 ENSP00000461160
ENST00000571156
ENST00000571075
ENST00000572257 ENSP00000461827
ENST00000576707 ENSP00000461128
ENST00000573150 ENSP00000459280
ENST00000571051
ENST00000570923 ENSP00000458200
ENST00000575282
ENST00000571675
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Mucopolysaccharidoses pathway
HS-GAG degradation pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Glycosaminoglycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.31074
RefSeq NM_000199 XM_005257583
HUGO
OMIM
CCDS CCDS11770
HPRD 05590
IMGT
EMBL
GenPept
RNA Seq Atlas