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FLASH GENE
Symbol CTSA contributors: SGE - updated : 12-01-2010
HGNC name cathepsin A
HGNC id 9251
Corresponding disease
GSL neuraminidase deficiency with beta galactosidase deficiency
Location 20q13.12      Physical location : 44.519.590 - 44.527.456
Synonym name
  • protective protein for beta-galactosidase (galactosialidosis)
  • carboxypeptidase C
  • beta-galactosidase 2
  • lysosomal protective protein
  • protective protein for beta-galactosidase (galactosialidosis)
  • carboxypeptidase C
  • Synonym symbol(s) PPCA, GSL, GLB2, NGBE, PPGB
    EC.number 3.4.16.5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text partially overlapping PLTP in opposite orientation
    STRUCTURE 7.87 kb     15 Exon(s)
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2254 - 498 - -
  • isoform a
  • precursor
  • 15 - 2300 - 480 - -
  • isoform b
  • precursor
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveliver    
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Connectivecartilage   
    Epithelial    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer heteromer , dimer , polymer
    HOMOLOGY
    interspecies homolog to murine Ctsa (87.8pc)
    homolog to rattus Ppgb (85.3pc)
    Homologene
    FAMILY
  • serine carboxypeptidase S10 family
  • CATEGORY chaperone/stress , enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • galactosidase, associated with esterase, deamidase, serine carboxypeptidase, cathepsin A activity, activity on selected neuropeptides, catalytic function distinct from the protective function
  • serine carboxypeptidase activity triggering the degradation of the lysosome-associated membrane protein type 2a (Cuervo 2003)
  • carboxypeptidase that can deamidate tachykinins (Galjart 1991)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with beta-galactosidase and neuramidase, providing a protective role for stability and activity
  • heterodimer 32-20kDa chains held together by disulfide bonds
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) GSL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS