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FLASH GENE
Symbol WDR45 contributors: mct - updated : 22-12-2014
HGNC name WD repeat domain 45
HGNC id 28912
Corresponding disease
NBIA5 neurodegeneration with brain iron accumulation 5
Location Xp11.23      Physical location : 48.932.091 - 48.958.059
Synonym name
  • WD repeat domain, X-linked 1
  • WD45 repeat protein interacting with phosphoinositides 4
  • Synonym symbol(s) JM5, WDRX1, WIPI-4, WIPI4, NBIA4
    DNA
    TYPE functioning gene
    STRUCTURE 26.69 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1925 - 361 - 2004 15602573
    11 - 1655 - 360 - 2004 15602573
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineparathyroid   highly
    Reproductivefemale systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three WD repeats
  • a conserved motif for interaction with phospholipids
  • HOMOLOGY
    Homologene
    FAMILY the WIPI subfamily of WD40 repeat proteins
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions
  • beta-propeller scaffold protein with a putative role in autophagy
  • beta-propeller protein postulated to play a role in autophagy
  • plays a key role in autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NBIA5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS