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FLASH GENE
Symbol GALNS contributors: - updated : 10-05-2006
HGNC name galactosamine (N-acetyl)-6-sulfate sulfatase
HGNC id 4122
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