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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
    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