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FLASH GENE
Symbol WDR45B contributors: mct - updated : 10-10-2022
HGNC name WD repeat domain 45B
HGNC id 25072
Corresponding disease
NEDSBAS neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
Location 17q25.3      Physical location : -
Synonym name
  • WDR45-like protein
  • WIPI49-like protein
  • Synonym symbol(s) WIPI-3, WIPI3, WDR45L, NEDSBAS
    DNA
    TYPE functioning gene
    STRUCTURE 33.88 kb     10 Exon(s)
    motif
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2496 - 344 - 2022 36173873
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrineparathyroid   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two WD40 repeats
  • two sites embedded in blades 5 and 6 for recognizing phosphoinositides, resembling that in Hsv2
  • secondary structure seven-bladed beta-propeller structure
    HOMOLOGY
    Homologene
    FAMILY WIPI subfamily of WD40 repeat proteins
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions
  • WIPI proteins function as essential phosphatidylinositol 3-phosphate (PtdIns3P) effectors at the nascent autophagosome
  • WDR45B is likely critical for neural homeostasis
  • novel function of WDR45/45B in autophagosome-lysosome fusion
  • WDR45 and WDR45B are critical for autophagosome-lysosome fusion in neural cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • WDR45B associates with AMPK-activated TSC complex at lysosomes, regulating MTOR
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDSBAS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice deficient in Wdr45b exhibit motor deficits and learning and memory defects; Histological analysis reveals that Wdr45b knockout (KO) mice exhibit a large number of swollen axons and show cerebellar atrophy