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

    Gene ID: 6448, updated on 8-Aug-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:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (80200668..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 glucosidase alpha, acid Neighboring gene eukaryotic translation initiation factor 4A3 Neighboring gene caspase recruitment domain family member 14 Neighboring gene solute carrier family 26 member 11 Neighboring gene ring finger protein 213 Neighboring gene uncharacterized LOC100294362 Neighboring gene microRNA 4730 Neighboring gene endonuclease V

    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    N-sulfoglucosamine sulfohydrolase activity TAS
    Traceable Author Statement
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
     
    heparan sulfate proteoglycan catabolic process IMP
    Inferred from Mutant Phenotype
    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
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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]
      cd16027
      Location:24472
      SGSH; N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      80200668..80220400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257583.4XP_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_017024951.1XP_016880440.1  

    3. XM_005257582.3XP_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
    4. XM_011525127.2XP_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
    5. XM_017024952.1XP_016880441.1  

    6. 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_001752587.1 RNA Sequence

    2. XR_001752592.1 RNA Sequence

    3. XR_001752588.1 RNA Sequence

    4. XR_001752589.1 RNA Sequence

    5. XR_001752590.1 RNA Sequence

    6. XR_001752586.1 RNA Sequence

    7. XR_001752591.1 RNA Sequence

    8. XR_001752585.1 RNA Sequence

      Related
      ENST00000573150, OTTHUMT00000437697
    9. XR_934532.2 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)