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FLASH GENE
Symbol WIPI1 contributors: SGE/npt - updated : 06-04-2010
HGNC name WD repeat domain, phosphoinositide interacting 1
HGNC id 25471
Location 17q24.2      Physical location : 66.417.422 - 66.453.653
Synonym name
  • WD40 repeat protein Interacting with phosphoInositides of 49kDa
  • WIPI-1 alpha
  • Atg18 protein homolog
  • Synonym symbol(s) Atg18, FLJ10055, WIPI49
    DNA
    TYPE functioning gene
    STRUCTURE 36.23 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1939 - 446 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineparathyroid   highly
    Nervousbrainhindbraincerebellum highly
    Reproductivefemale systemplacenta  highly
     male systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Muscularstriatumskeletal highly
    cell lineage
    cell lines G361, Sk-mel-28, Sk-mel-13, WM852 and WM451 cells
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • LXXLL signature motifs for nuclear receptor interactions
  • three WD repeats
  • HOMOLOGY
    interspecies homolog to murine Wipi1 (94.4pc)
    homolog to rattus Wipi1 (94.3pc)
    Homologene
    FAMILY
  • WIPI subfamily of WD40 repeat proteins
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    text trans-elements of the Golgi and peripheral endosomes, clathrin-coated vesicles
    basic FUNCTION
  • may play a role in autophagy, and autophagic capacity may be compromised in cancers (Proikas-Cezanne 2007)
  • may regulate the trafficking of proteins involved in the
  • mannose-6-phosphate receptor (MPR) recycling pathway
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • regulatory component of the endosomal and mannose-6-phosphate receptor pathway (Jeffries 2004)
  • INTERACTION
    DNA
    RNA
    small molecule other,
  • binding phosphatidyl-inositol-3-phosphate, PtdIns3,5P2
  • protein
  • probably interacts with androgen (AR) and the estrogen receptor (ER)
  • interacting with RAR, RXR (Proikas-Cezanne 2004)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    upregualted in various tumor tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS