Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol ASPA contributors: mct - updated : 04-09-2007
HGNC name aspartoacylase (Canavan disease)
HGNC id 756
Corresponding disease
CBBD Canavan-van-Bogaert-Bertrand disease
Location 17p13.3      Physical location : 3.377.403 - 3.402.699
Synonym name
  • aspartoacylase (aminoacylase 2, Canavan disease)
  • amyloacylase 2
  • N-acetylaspartate
    • Synonym symbol(s) ACY2, ASP, NAA
    EC.number 3.5.1.15
    DNA
    TYPE functioning gene
    STRUCTURE 23.00 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map pter - D17S1504 - CRK - YWHAE - D17S28 - DPH1 - D17S5 - D17S1520 - D17S1882 - D17S695 - ASPA - D17S1854 - D17S675 - D17S1574 - cen
    Authors Hoff (00)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   lowly
    Endocrineadrenal gland   moderately
    Nervousbrain   moderately
    Respiratoryrespiratory tracttrachea  lowly
    Skin/Tegumentskin   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal moderately
    Nervous   moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a catalytic domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to chimpanzee ASPA (100.00 pc)
    homolog to rattus Aspa (86.86 pc)
    homolog to murine Aspa (86.54 pc)
    Homologene
    FAMILY
  • aspA/astE family
  • aspartoacylase subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • hydrolyzing preferentially N-acetyl-L-aspartic acid into aspartate and acetate, and degrading N-acetylaspartate (NAA) into acetate and aspartate
  • supplying acetate for myelin lipid synthesis
  • playing an important role in osmoregulation
  • may be actively participating in myelin synthesis by providing NAA-derived acetate for acetyl CoA synthesis, which in turn is used for synthesis of the lipid portion of myelin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CBBD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS