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FLASH GENE
Symbol AMBRA1 contributors: mct - updated : 07-12-2019
HGNC name autophagy/beclin-1 regulator 1
HGNC id 25990
Location 11p11.2      Physical location : 46.417.963 - 46.612.914
Synonym name
  • KIAA1736 protein
  • activating molecule in beclin-1-regulated autophagy
  • WD repeat domain 94
  • Synonym symbol(s) FLJ20294, MGC33725, KIAA1736, WDR94, DCAF3
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 194.95 kb     19 Exon(s)
    motif
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 5044 133 1208 - 2007 17589504
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly
     mouthtongue  predominantly
    Lymphoid/Immunelymph node   highly
    Reproductivefemale systemuteruscervix moderately
     female systembreastmammary gland moderately
     female systemovary  moderately
    Skin/Tegumentskin   highly
    Visualeye   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two WD repeats, a WD40 domain at its amino terminus
  • conjugated ubiquitinated
    HOMOLOGY
    interspecies ortholog to rattus Nyw1
    Homologene
    FAMILY
    CATEGORY regulatory , unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • regulating autophagy and having a crucial role in embryogenesis
  • positive regulator of the BECN1-dependent programme of autophagy
  • activates autophagy in the CNS by stimulating the activity of the class III phosphatidylinositol 3-kinase (PI3K) complex that is essential for the formation of new phagophores
  • not required for Parkin translocation to depolarized mitochondria but was critically important for subsequent mitochondrial clearance
  • AMBRA1 is a mitophagy receptor for the selective removal of damaged mitochondria in mammalian cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BECLIN 1-interacting protein, that positively regulates the BECLIN 1-dependent programme of autophagy
  • can compete with both mitochondrial and endoplasmic reticulum-resident BCL2 (mito-BCL2 and ER-BCL2, respectively) to bind BECLIN 1 (a dynamic interaction exists between AMBRA1 and BCL-2 at the mitochondria that could regulate both BECLIN 1-dependent autophagy and apoptosis)
  • ubiquitination of AMBRA1 by Parkin (interaction of Parkin with AMBRA1 is a key mechanism for induction of the final clearance step of Parkin-mediated mitophagy)
  • WASH1 is a new interactor of BECN1 and present in the BECN1-PIK3C3 complex with AMBRA1
  • RNF2 potentiates AMBRA1 degradation with the help of WASH1
  • AMBRA1 is able to induce mitophagy via MAP1LC3A binding, regardless of PARK2 and SQSTM1
  • through DEPTOR stabilization, AMBRA1 establishes a feedback loop that ensures the rapid onset of autophagy by enhancing MTOR inactivation
  • HUWE1 is a key inducing factor in AMBRA1-mediated mitophagy, a process that takes place independently of the main mitophagy receptors
  • MCL1 is an upstream stress-sensitive protein, functional in AMBRA1-mediated mitophagy
  • MCL1 stability is regulated by the kinase GSK3B and the E3 ubiquitin ligase HUWE1 in regulating AMBRA1-mediated mitophagy
  • cell & other
    REGULATION
    Other when autophagy is induced, ULK1 phosphorylates AMBRA1, releasing the autophagy core complex from dynein
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS