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FLASH GENE
Symbol GM2A contributors: mct - updated : 29-04-2011
HGNC name GM2 ganglioside activator
HGNC id 4367
Corresponding disease
GM2A GM2 gangliosidosis, AB variant
Location 5q33.1      Physical location : 150.632.612 - 150.649.951
Synonym name
  • saposin 3
  • cerebroside sulfate activator protein
  • sphingolipid activator protein 3
  • ganglioside GM2 activator protein
  • Synonym symbol(s) SAP3, SAP-3, GM2-AP
    DNA
    TYPE functioning gene
    STRUCTURE 17.34 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   transcription factor
    text structure
  • GC rich region and several putative promoter elements were present, including Sp1, AP2, cAMP-responsive element, and B-cell-specific activating protein (
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3690 17.6 193 - 1999 10364519
    - - 3480 - 186 - 1999 10364519
    EXPRESSION
    Rna function placenta, bone marrow, mammary gland, bladder, lymph node, and spleen had the highest mRNA levels
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    urinarykidneynephrondistal convoluted tubule  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificadipocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • at least three functional elements: a hydrophobic pocket called the beta-cup structure
  • an oligosaccharide binding site
  • an area that interacts with HEXA
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • ganglioside GM2 activator protein
  • acts as a cofactor essential for the degradation of ganglioside GM2 by HEXA
  • catalyzing the degradation of glycosphingolipids with terminal alpha-galactosyl residues in most non neuronal tissues and in body fluids
  • small lysosomal lipid transfer protein essential for the hydrolytic conversion of ganglioside GM2 to GM3 by beta-hexosaminidase A (
  • adipokine whose expression is augmented by adipogenesis
  • likely impairs insulin signaling through its ligand binding domain, but also NGF signal transduction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    sphingolipid catabolism
    a component
  • complexing with certain glycosphingolipid
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HEXB can utilize GM2 ganglioside as a substrate, but requires GM2A to bind GM2 ganglioside and then interact with the enzyme, placing the terminal GalNAc residue in the active site of the alpha-subunit (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GM2A
    related resource
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    by adipogenesis and serum of obese human subjects was found to be significantly higher than in lean counterparts
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS