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FLASH GENE
Symbol AVEN contributors: mct - updated : 07-06-2012
HGNC name apoptosis, caspase activation inhibitor
HGNC id 13509
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • Ala-Gly rich domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY protooncogene
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • cellular localization is mainly cytosolic, but a small fraction of the protein is present in the nucleus
  • basic FUNCTION
  • involved in the protection against apoptosis mediated by APAF1
  • can function as an ATM activator to inhibit G2/M progression
  • regulator of apoptosis whose overexpression is associated with poor prognosis in several cancers, including childhood acute lymphoblastic leukemia and acute myeloid leukemia
  • estrogen target gene and may be involved in the mechanism of testicular apoptosis control by estrogens (
  • CELLULAR PROCESS cell life, antiapoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to APAF1, BCLXL, BCL2
  • new ATM activator and, in aggregate,AVEN, a known apoptotic inhibitor, is a critical transducer of the DNA-damage signal
  • serves as an activator and substrate of ATM, thereby modulating the DNA-damage response and G(2)/M cell cycle progression
  • cell & other
    REGULATION
    Other regulation of nucleocytoplasmatic traffic of AVEN could modulate potentially its ability to influence cell cycle progression
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    deregulation of the expression of the apoptosis inhibitor Aven may be related to male factor infertility
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • its expression can predict prognosis in childhood acute lymphoblastic leukemia
  • Therapy target
    ANIMAL & CELL MODELS