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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
Physical map
LOC392564 X similar to ribosomal protein L24 PR48 Xp22.33; protein phosphatase 2A 48 kDa regulatory subunit LOC392566 X similar to testis expressed sequence 13A LOC392567 X similar to filamin-binding LIM protein-1; migfilin LOC392421 X LOC392421 LOC392422 X LOC392422 LOC392568 X similar to bA203I16.1 (KIAA0970 protein) LOC392569 X similar to Phosphoglycerate kinase 1 (Primer recognition protein 2) (PRP 2) SHOX Xp22.3 short stature homeobox LOC392570 X similar to Menkes Disease (ATP7A) LOC389912 X similar to Putative phosphoglycerate mutase 3 LOC389837 X LOC389837 IL3RA Xp22.3 interleukin 3 receptor, alpha (low affinity) SLC25A6 Xp22.32 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 FLJ13330 Xp22.33; hypothetical protein FLJ13330 ASMTL Xp22.3 acetylserotonin O-methyltransferase-like P2RY8 Xp22.33; purinergic receptor P2Y, G-protein coupled, 8 DXYS155E Xp22.32 DNA segment on chromosome X and Y (unique) 155 expressed sequence ASMT Xp22.3 acetylserotonin O-methyltransferase LOC203604 Xp22.33 similar to trophinin; melanoma antigen, family D, 3; trophinin-2; magphinin-alpha; magphinin-gamma; magphinin-beta 2; necdin and trophinin like; melanoma antigen, family D, 3-like ALTE Xp22.33, Ac-like transposable element LOC389838 X hypothetical gene supported by AK125149; BC019893 CD99 Xp22.32 CD99 antigen XG Xp22.32 Xg blood group (pseudoautosomal boundary-divided on the X chromosome) GYG2 Xp22.3 glycogenin 2 ARSD Xp22.3 arylsulfatase D ARSE Xp22.32 arylsulfatase E (chondrodysplasia punctata 1) LOC347527 Xp22.33 similar to arylsulfatase ARSF Xp22.32 arylsulfatase F DKFZp564I1922 Xp22.33 adlican ASSP4 Xpter-p22 argininosuccinate synthetase pseudogene 4 PRKX Xp22.3 protein kinase, X-linked LOC392423 X similar to ubiquitin and ribosomal protein S27a precursor; ubiquitin carboxyl extension protein 80; 40S ribosomal protein S27a; ubiquitin; ubiquitin-CEP80
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