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FLASH GENE
Symbol SIAE contributors: mct - updated : 06-11-2010
HGNC name sialic acid acetylesterase
HGNC id 18187
Location 11q24.2      Physical location : 124.505.693 - 124.543.717
Synonym name
  • cytosolic sialic acid 9-O-acetylesterase homolog
  • Ysg2 homolog (mouse)
  • sialic acid-specific acetylesterase II
  • Synonym symbol(s) MGC87009, CSE-C, LSE, YSG2, H-Lse
    EC.number 3.1.1.53
    DNA
    TYPE functioning gene
    STRUCTURE 38.03 kb     10 Exon(s)
    regulatory sequence scaffold attachement regions/matrix attachement regions
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 2868 58 523 - 1999 10464298
    also called variant 2 or H-Lse
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon predominantly
     mouthtongue  highly
    Nervousbrain   moderately
    Reproductivefemale systemovary  highly
     male systemtestis  moderately
    Skin/Tegumentskin   moderately
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer dimer , oligo
    HOMOLOGY
    interspecies ortholog to murine Ysg2
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • sialic acid 9-O-acetylesterase activity
  • negatively regulates B lymphocyte antigen receptor signalling and is required for the maintenance of immunological tolerance
  • specifically removes acetyl moieties from the 9-OH position of alpha2-6-linked sialic acid, exhibit enhanced B cell receptor (BCR) activation, defects in peripheral B cell development, and spontaneously develop antichromatin autoantibodies and glomerular immune complex deposits
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein regulates the function of CD22, a Siglec that functions in vivo as an inhibitor of BCR signaling
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autoimmune disease AIS6
    Variant & Polymorphism other functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common autoimmune disorders
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS