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FLASH GENE
Symbol SGSH contributors: mct/npt - updated : 30-06-2009
HGNC name N-sulfoglucosamine sulfohydrolase
HGNC id 10818
Corresponding disease
MPS3A mucopolysaccharidosis, type IIIA
Location 17q25.3      Physical location : 78.183.080 - 78.194.199
Synonym name
  • heparan sulfate sulfatase
  • sulfoglucosamine sulfamidase
  • sulfamidase
  • sulphamidase
  • Synonym symbol(s) SPHM, HSS, SFMD
    EC.number 3.10.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 11.12 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    FLJ21865 17q25.3 endo-beta-N-acetylglucosaminidase LOC339162 17q25.3 similar to ataxin 2-binding protein 1 isoform 2; hexaribonucleotide binding protein 1 LOC388423 17 LOC388423 LOC201109 17q25.3 hypothetical LOC201109 LOC339221 17q25.3 Alkaline sphingomyelinase MGC10561 17q25.3 hypothetical protein MGC10561 CBX8 12p13.32 chromobox homolog 8 (Pc class homolog, Drosophila) CBX4 17q25.3 chromobox homolog 4 (Pc class homolog, Drosophila) MGC25062 LOC388424 17 similar to hypothetical protein FLJ20753 FLJ20753 17q25.3 hypothetical protein FLJ20753 GAA 17q25.2-q25.3 glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) DDX48 17q25.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 48 LOC388425 17 hypothetical gene supported by BC035394 CARD14 17q25 caspase recruitment domain family, member 14 SGSH 17q25.3 N-sulfoglucosamine sulfohydrolase (sulfamidase) SLC26A11 17q25 solute carrier family 26, member 11 KIAA1618 17q25.3 KIAA1618 protein KIAA1554 17q25.3 KIAA1554 protein FLJ35220 17q25.3 hypothetical protein FLJ35220 LOC388426 17 hypothetical gene supported by AK090819 NPTX1 17q25.2 neuronal pentraxin I LOC201259 17q25.3 similar to 60S ribosomal protein L32 raptor 17q25.3 raptor LOC390817 17 similar to 60S ribosomal protein L12 FLJ11749 17q25.3 hypothetical protein FLJ11749 LOC284180 17q25.3 hypothetical LOC284180 BAIAP2 17q25 BAI1-associated protein 2 LOC388427 17 LOC388427 LOC388428 17 hypothetical gene supported by AK126811 AZI1 17q25.3 hypothetical gene supported by AK126811 FLJ31528 17q25.3 hypothetical protein FLJ31528 LOC284184 17q25.3 hypothetical LOC284184 MGC15523 17q25.3 hypothetical protein MGC15523
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2770 55 502 - Karageorgos (1996), Weber (1997)
    - - - 4300 - - - Karageorgos
    - - - 7100 - - - Karageorgos
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticthymus    
    Digestivepharynx   highly
     salivary gland   highly
    Lymphoid/Immunetonsils   highly
    Reproductivefemale systembreastmammary gland highly
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    Lymphoid    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five potential N glycosylation sites
  • mono polymer homomer , dimer
    isoforms Precursor mature form 57kDa
    HOMOLOGY
    Homologene
    FAMILY
  • sulfatase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • required for the degradation of heparan sulphate (Karageorgosv 1996)
  • catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS3A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS