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FLASH GENE
Symbol PLEKHF1 contributors: mct/pgu - updated : 04-09-2013
HGNC name pleckstrin homology domain containing, family F (with FYVE domain) member 1
HGNC id 20764
Location 19q12      Physical location : 30.156.326 - 30.166.376
Synonym name
  • phafin 1
  • apoptosis-inducing protein D
  • lysosome-associated apoptosis-inducing protein containing PH and FYVE domains
  • apoptosis-inducing protein
  • PH and FYVE domain-containing protein 1
  • zinc finger FYVE domain-containing protein 15
  • Synonym symbol(s) APPD, MGC4090, PHAFIN1, ZFYVE15, LAPF
    DNA
    TYPE functioning gene
    STRUCTURE 10.05 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1774 - 279 - 2012 22115783
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineplacenta    
    Nervousnervecranial nerve  highly
    Reproductivefemale systemovary  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one pleckstrin homology (PH) domain
  • a Fab1-YotB-Vac1p-EEA1 (FYVE) domain membrane-binding domains
  • a tail-domain providing lysosomal targeting signature and the ability to induce autophagy that is mediated by RAB7A signaling
  • HOMOLOGY
    interspecies homolog to murine 1810013P09Rik
    intraspecies homolog to PLEKHF2
    Homologene
    FAMILY
  • Phafin protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,nucleus
    text
  • binding to lysosomes was mediated by RAB7A signaling
  • basic FUNCTION
  • apoptosis inducing protein
  • may launch caspase-independent apoptosis through the lysosomal-mitochondrial pathway
  • able to initiate caspase-independent apoptosis through lysosomal-mitochondrial apoptotic pathway
  • recruits phosphorylated TP53 to lysosomes and triggers lysosomal destabilization in apoptosis
  • by modulating the endosomal and/or lysosomal pathway, PLEKHF1 and PLEKHF2 may function as a membrane organizer that controls (at a cellular or subcellular level) the space and time of intracellular signal propagation
  • involved in caspase-independent apoptosis
  • modulates the membrane density of certain receptors and participates in endocytosis and autophagy processes
  • in addition to its role in endosome transport, also involved in lysosomal targeting and autophagosome formation
  • modulated the protein content of the plasma membrane and was involved in different endocytosis events
  • CELLULAR PROCESS cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+ binding
  • protein
  • interacting with TP53 (phosphorylated TP53 might translocate to lysosome via forming complexes with adaptor protein PLEKHF1 and subsequently result in lysosomal membrane permeabilization and apoptosis, which might be in a transcription-independent manner)
  • recruits phosphorylated TP53 to lysosomes and triggers caspase-independent apoptosis
  • involved in lysosomal sorting and induction of autophagosome formation via RAB7A signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS