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FLASH GENE
Symbol ARSA contributors: mct/npt - updated : 11-06-2010
HGNC name arylsulfatase A
HGNC id 713
Corresponding disease
LDM metachromatic leukodystrophy
Location 22q13.33      Physical location : 51.063.449 - 51.066.607
Synonym name cerebroside-sulfatase
EC.number 3.1.6.8
DNA
TYPE functioning gene
STRUCTURE 3.16 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D22S311 - D22S446 - D22S315 - D22S275 - D22S683 -D22S5270 - D22S274 - D22S526 - ARSA - qter
Authors Brennan (00)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 2071 - 507 - Regis (2002)
9 - 1966 - 507 - Regis (2002)
9 - 1918 - 507 - Regis (2002)
9 - 1873 - 507 - Regis (2002)
8 - 1681 - 423 - Regis (2002)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Lymphoid/Immunespleen   highly
 thymus   highly
Nervousbrain   moderately
Reproductivefemale systemplacenta  highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • HTH domain
  • tRNA synthetases class II core domain (F)
  • HOMOLOGY
    interspecies ortholog to murine Arsa
    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
    text
  • plays a role as a novel component of the extracellular matrix (Fujita 2010)
  • exists on the cell surface of vascular endothelial cells, suggesting that ARSA plays a role in the components of the extracellular matrix (Fujita 2010)
  • with ARSB exist on the cell surface of sinusoidal endothelial cells, hepatocytes, and sinusoidal macrophages (Kupffer cells), as well as in the lysosome (Mitsunaga-Nakatsubo 2009)
  • basic FUNCTION
  • hydrolyzing esters bonds in cerebrosides, sulfation of most sulfolipids
  • plays a role in the components of the extracellular matrix and functions as a substrate on which cells adhere and form protrusions (Fujita 2010)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction, coupled with the complete failure of this process when HSPA2 is depleted in infertile patients
  • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) LDM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target AAV5(adeno-associated virus-mediated gene transfer 5) -mediated brain delivery of ARSA is a potentially efficacious therapeutic strategy for MLD patients, especially for those with rapidly progressive form of the disease
    ANIMAL & CELL MODELS