Format

Send to:

Choose Destination

SGSH N-sulfoglucosamine sulfohydrolase [ Homo sapiens (human) ]

Gene ID: 6448, updated on 26-May-2016
Official Symbol
SGSHprovided by HGNC
Official Full Name
N-sulfoglucosamine sulfohydrolaseprovided by HGNC
Primary source
HGNC:HGNC:10818
See related
Ensembl:ENSG00000181523 HPRD:05590; MIM:605270; Vega:OTTHUMG00000177569
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSS; SFMD; MPS3A
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]
Orthologs
Location:
17q25.3
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (80206966..80220400, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78180515..78194199, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene caspase recruitment domain family member 14 Neighboring gene uncharacterized LOC105371920 Neighboring gene solute carrier family 26 member 11 Neighboring gene ring finger protein 213 Neighboring gene uncharacterized LOC100294362

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Glycosaminoglycan degradation, organism-specific biosystem (from KEGG)
    Glycosaminoglycan degradation, organism-specific biosystem
    Glycosaminoglycan degradation
  • Glycosaminoglycan degradation, conserved biosystem (from KEGG)
    Glycosaminoglycan degradation, conserved biosystem
    Glycosaminoglycan degradation
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • HS-GAG degradation, organism-specific biosystem (from REACTOME)
    HS-GAG degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of heparan sulfate/heparin. Complete d...
  • Heparan sulfate degradation, organism-specific biosystem (from KEGG)
    Heparan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Heparan sulfate degradation, conserved biosystem (from KEGG)
    Heparan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-sulfoglucosamine sulfohydrolase activity TAS
Traceable Author Statement
more info
 
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
sulfuric ester hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
proteoglycan metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
Preferred Names
N-sulphoglucosamine sulphohydrolase
Names
heparan sulfate sulfatase
mucopolysaccharidosis type IIIA
sulfoglucosamine sulfamidase
sulphamidase
NP_000190.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008229.1 RefSeqGene

    Range
    5001..16121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000199.3NP_000190.1  N-sulphoglucosamine sulphohydrolase precursor

    See identical proteins and their annotated locations for NP_000190.1

    Status: REVIEWED

    Source sequence(s)
    AC087741, AW274014, BF445930, DC319407, U30894
    Consensus CDS
    CCDS11770.1
    UniProtKB/Swiss-Prot
    P51688
    Related
    ENSP00000314606, OTTHUMP00000257031, ENST00000326317, OTTHUMT00000437695
    Conserved Domains (2) summary
    COG3119
    Location:20444
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:23328
    Sulfatase; Sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

    Range
    80206966..80220400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257583.3XP_005257640.1  

    Conserved Domains (2) summary
    COG3119
    Location:20325
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:23314
    Sulfatase; Sulfatase
  2. XM_005257582.2XP_005257639.1  

    Conserved Domains (2) summary
    COG3119
    Location:20316
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:23314
    Sulfatase; Sulfatase
  3. XM_011525127.1XP_011523429.1  

    Conserved Domains (2) summary
    COG3119
    Location:20316
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:23314
    Sulfatase; Sulfatase
  4. XM_011525126.1XP_011523428.1  

    Conserved Domains (2) summary
    COG3119
    Location:20316
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:23314
    Sulfatase; Sulfatase

RNA

  1. XR_934532.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    78269258..78280378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)