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FLASH GENE
Symbol VPS39 contributors: mct - updated : 21-11-2022
HGNC name vacuolar protein sorting 39 (yeast)
HGNC id 20593
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to TRAP1
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endosome
intracellular,cytoplasm,organelle,lysosome
basic FUNCTION
  • may be promoting clustering and fusion of late endosomes and lysosomes
  • modulating the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway
  • regulating the balance of SMAD2 and SMAD3 signaling by localizing SMAD4 intracellularly, thus contributing to cellular specificity of TGF-beta transcriptional responses
  • TBC1D15 and and VPS39 regulate lysosomal morphology and play a role in maintaining growth factor dependence
  • with TGFBRAP1, are nonredundant and essentially
  • required for early embryonic development
  • cytoplasmic protein involved in lysosomal processing as a novel interactor with Merkel cell polyomavirus large T (LT) oncoprotein
  • both VPS41 and VPS39 are required for late endosomal-lysosomal fusion events and the delivery of endocytic cargo to lysosomes in human cells
  • is a novel player in ethanolamine-stimulated phosphatidylethanolamine (PE) transport to the mitochondria
  • acts as a negative regulator of ciliogenesis in human renal cells, by controlling the localization of the intraflagellar transport 20 protein at the base of cilia through autophagy
  • is an important regulator of myoblast differentiation and muscle glucose uptake
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SGPL1 upregulation stimulates VPS39 recruitment to the mitochondria, thereby enhancing mitochondria-lysosome contacts
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in myoblasts and myotubes from individuals with T2D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    diabetetype 2 
    VPS39 thereby offers a therapeutic target for T2D
    ANIMAL & CELL MODELS