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FLASH GENE
Symbol BCL2A1 contributors: mct - updated : 08-09-2020
HGNC name BCL2-related protein A1
HGNC id 991
DNA
TYPE functioning gene
STRUCTURE 10.41 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site   transcription factor
text structure
  • an NFKappa B site responsible
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 955 - 163 - 2019 31003775
    2 - 899 - 175 - 2019 31003775
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  lowly
     stomach   moderately
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Reproductivemale systemtestis  lowly
    Respiratorylung   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    Lymphoid    
    Muscularsmooth   
    cell lineage
    cell lines hematopoietic malignancies and melanoma
    fluid/secretion predominantly in blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • two Bcl2 homology domains BH1 and BH2
  • C-terminal end of BCL2A1 is important for anchoring BCL2A1 to the mitochondria due to GFP-BCL2A1 being associated to the mitochondria, whereas GFP-BCL2A1, devoid of its C-terminal tail, also localizes in the cytosol (Brien 2009)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to rattus Bcl2a1 (76.4 pc)
    homolog to murine Bcl2a1d (72.7 pc)
    intraspecies homolog to BCL2
    Homologene
    FAMILY
  • BCL-2 protein family of apoptosis regulators
  • CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    text localizes to the mitochondria (Brien 2009)
    basic FUNCTION
  • retarding apoptosis induced by IL-3 deprivation
  • may function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection
  • reducing the release of pro-apoptolic cytochrome C from mitochondria and blocking caspase activation
  • required for mitochondrial viability and function
  • cytoprotective function
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    text apoptosis inhibitor,antipathogen response
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BCL2A1 expression may contribute to the inhibitory effect of ERK1/2 on nutlin-3-induced apoptosis, thereby constituting a negative feedback loop of TP53-induced apoptosis
  • up-regulation of CCND1 and BCL2A1 by insulin is involved in osteoclast proliferation
  • TRIM17 stabilizes BCL2A1 by blocking TRIM28 from binding and ubiquitinating BCL2A1, and GSK3B is involved in the phosphorylation-mediated inhibition of BCL2A1 degradation
  • RABAC1 inhibits the anti-apoptotic activity of BCL2A1 and induces apoptosis in gastric cancer cells
  • cell & other
    REGULATION
    induced by NF Kappa B in response to inflammatory mediators
    GM-CSF, CD40, phorbol ester and inflammatory cytokine like TNF alpha and IL-1 beta
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target in the treatment of allergic diseases
    SystemTypeDisorderPubmed
    cancer  
    BCL2A1 mediates the resistance to BCL2 inhibitors and may be considered as a target for anti-cancer therapy
    ANIMAL & CELL MODELS
  • Bcl2a1 knock out mice (Xiang, 2001)
  • induction of Bcl2-A1 in ALS mice represents a pro-survival strategy aimed at counteracting the toxic effects of mutant Sod1