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FLASH GENE
Symbol AVEN contributors: mct - updated : 07-06-2012
HGNC name apoptosis, caspase activation inhibitor
HGNC id 13509
DNA
TYPE functioning gene
STRUCTURE 172.90 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
CKTSF1B1 15q13-q15 cysteine knot superfamily 1, BMP antagonist 1 LOC388110 15 similar to 4930563P21Rik protein RYR3 15q15 ryanodine receptor 3 AVEN 15q13.1 apoptosis, caspase activation inhibitor CHRM5 15q26 cholinergic receptor, muscarinic 5 LOC56851 15q13.2 chromosome 15 hypothetical ATG/GTP binding protein PGBD4 15q13.1 piggyBac transposable element derived 4 FLJ22557 15q13.2 hypothetical protein FLJ22557 LOC51234 15q13.2 hypothetical protein LOC51234 SLC12A6 15q13 solute carrier family 12 (potassium/chloride transporters), member 6 NOLA3 15q14-q15 nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs) LOC254531 15q13.2 PlSC domain containing hypothetical protein GOLGIN-67 15q11.2 PlSC domain containing hypothetical protein LOC390565 15 LOC390565 LOC390566 15 similar to amyloid beta A4 precursor protein-binding, family A, member 2; neuronal munc18-1-interacting protein 2; X11-like protein; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; neuron-specific X11L protein; ad LOC145990 15q13.2 similar to Heterogeneous nuclear ribonucleoprotein L LOC145989 15q13.2 fascin pseudogene LOC390567 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) LOC145988 15q13.3 similar to golgin-67 isoform c LOC390568 15 LOC390568 LOC390569 15 similar to amyloid beta A4 precursor protein-binding, family A, member 2; neuronal munc18-1-interacting protein 2; X11-like protein; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; neuron-specific X11L protein; ad CX36 15q14 similar to amyloid beta A4 precursor protein-binding, family A, member 2; neuronal munc18-1-interacting protein 2; X11-like protein; phosphotyrosine-binding/-interacting domain (PTB)-bearing protein; neuron-specific X11L protein; ad ACTC 15q11-q14 actin, alpha, cardiac muscle LOC390570 15 similar to GLP_457_13116_11626 AQR 15q13.3 likely ortholog of mouse aquarius
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1551 38.4 362 - 2010 20935510
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
 thymus   highly
Cardiovascularheart   highly
Digestiveintestinesmall intestine  highly
 intestinelarge intestinecolon highly
 liver   highly
Endocrinepancreas   highly
Reproductivefemale systemovary  highly
 male systemtestis  highly
 male systemprostate  highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
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