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FLASH GENE
Symbol ARSE contributors: mct/npt - updated : 19-06-2009
HGNC name arylsulfatase E (chondrodysplasia punctata 1)
HGNC id 719
Corresponding disease
CDPX1 chondrodysplasia punctata 1, X-linked recessive
Location Xp22.32      Physical location : 2.852.673 - 2.882.494
Synonym name arylsulfatase E
Synonym symbol(s) ARSEX, CDPX, CDPXR
EC.number 3.1.6.1
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster, escaping inactivation
STRUCTURE 29.82 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map see CDPX1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2220 62.3 589 - Urbitsch (2000)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreas    
Reproductivefemale systemovary  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • arylsulfatase motif
  • HOMOLOGY
    interspecies homolog to rattus Arse
    intraspecies homolog to ARSC1
    Homologene
    FAMILY
  • sulfatase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,lysosome
    text Golgi stack
    basic FUNCTION
  • arylsulfatase E, escaping inactivation
  • heat labile sulfatase, may be essential for the correct composition of cartilage and bone matrix during development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by warfarin
    ASSOCIATED DISORDERS
    corresponding disease(s) CDPX1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS