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FLASH GENE
Symbol GALNS contributors: - updated : 10-05-2006
HGNC name galactosamine (N-acetyl)-6-sulfate sulfatase
HGNC id 4122
Corresponding disease
MPS4A mucopolysaccharidosis, type IVA
Location 16q24.3      Physical location : 88.880.142 - 88.923.374
Synonym name
  • galactose-6-sulfate sulfatase
  • chondroitinase
  • chondroitinsulfatase
  • N-acetylgalactosamine-6-sulfate sulfatase
  • GalNAc6S sulfatase
    • Synonym symbol(s) GALNAC6S, GAS, FLJ42844, FLJ98217, FLJ17434
    EC.number 3.1.6.4
    DNA
    TYPE functioning gene
    STRUCTURE 43.23 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   ALU
    text structure GCbox consensus sequences,an ALU repeat in intron 5 an a VNTR-like sequence in intron 6
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 2380 58 522 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineparathyroid   highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoietickupffer
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 40 and 15 kDa polypeptides, linked by disulfide bond
  • larger N terminal domain
  • smaller C terminal-monomeric form
  • a formylglycine redidue generated from cystein (active site)
    • HOMOLOGY
    Homologene
    FAMILY
  • sulfatase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • acetyl-galactosamine-6-sulfate sulfatase, stepwise degradation of glycosaminoglycans (mucopolysaccharides)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with the protective protein PPGB, and NEU1
    • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS4A
    related resource Mucopolysaccharidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS