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FLASH GENE
Symbol BFAR contributors: mlc - updated : 07-01-2008
HGNC name bifunctional apoptosis regulator
HGNC id 17613
Location 16p13.12      Physical location : 14.726.667 - 14.763.092
Synonym symbol(s) BAR, RNF47
DNA
TYPE functioning gene
STRUCTURE 35.00 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
regionally located close (10kb) to the ADU breakpoint in DiGeorge syndrome,(?same as LAN1,IDD)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   highly
Hearing/Equilibriumear   highly
Nervousbrain   highly
Skin/Tegumentskin   highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RING finger domain
  • a sterile alpha motif (SAM), required for its interactions with BCL2 and BCLX(L) and for suppression of Bax-induced cell death in both mammalian cells and yeast
  • a DED-like domain responsible for its interaction with DED-containing procaspases and suppression of Fas-induced apoptosis
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    text anchored in intracellular membranes where BCL2 resides
    basic FUNCTION
  • potential adhesion receptor, putatively involved in neural crest cells migration
  • inhibitor of Bax-induced apoptosis, involved in the regulation of neuronal survival
  • scaffold protein capable of bridging two major apoptosis pathways
  • functions as an ER-associated RING-type E3 ligase, interacting with TMBIM6, and promotes proteasomal degradation of TMBIM6
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS