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FLASH GENE
Symbol BCL2L13 contributors: mct/npt - updated : 30/09/2008
HGNC name BCL2-like 13 (apoptosis facilitator)
HGNC id 17164
Location 22q11.2      Physical location : 18.121.484 - 18.211.987
Synonym name
  • MIL1 protein
  • mitochondria located 1 homolog
    • Synonym symbol(s) BCL-RAMBO, MIL1
    DNA
    TYPE functioning gene
    STRUCTURE 90.50 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see ATP6V1E
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3367 52.7 485 - Olsen (2006)
    - splicing 1390 - 104 ubiquitous Yi (2003)
    lack exon 8
    - - - - 104 in lymph node, heart, and cervix but is absent in brain Yi (2003)
  • contains a 98 bp Alu-like sequence which acts as an exon
  • lacking of the BH1, BH2 and BH3 motifs and becomes a BH4-only protein
  • not to be associated with mitochondria due to the absence of its C-terminal membrane anchor region
  • having proapoptotic capability
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnerve   highly
    Skin/Tegumentskin   highly
    Visualeye   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved Bcl-2 homology (BH) motifs 1, 2, 3, and 4
  • C-terminal mitochondrial membrane anchor region
    • HOMOLOGY
    Homologene
    FAMILY
  • BCL2 family of apoptosis regulators
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,nucleus
    basic FUNCTION novel type of pro-apoptotic BCL2 member that triggers cell death independently of its BH motifs
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    induces apoptosis that is specifically blocked by the caspase inhibitors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS