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FLASH GENE
Symbol VPS41 contributors: mct - updated : 21-11-2022
HGNC name vacuolar protein sorting 41 homolog (S. cerevisiae)
HGNC id 12713
Corresponding disease
SCAR29 spinocerebellar ataxia, autosomal recessive 29
Location 7p14.1      Physical location : 38.763.543 - 38.948.800
Synonym name vacuolar protein sorting 41 (yeast homolog)
Synonym symbol(s) HVSP41, S53, HVPS41, SCAR29, hVps41p
DNA
TYPE functioning gene
STRUCTURE 186.22 kb     29 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
29 - 5854 98.5 854 - 2021 33851776
26 initiation site 5779 - 829 - 2021 33851776
downstream initiation site, same reading frame
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver    
Nervousbrain    
Reproductivemale systemprostate   
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 7-fold repeat common to clathrin and VPS proteins (two repeats)
  • an ATP/GTP site
  • a RING zinc finger motif
  • HOMOLOGY
    Homologene
    FAMILY
  • VPS41 family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    text intracellular vesicles that originated from Golgi and shoned partial coincidence with the delta subunit of adaptor protein complex-3
    basic FUNCTION
  • formation and fusion of transport vesicles from the Golgi
  • both VPS41 and VPS39 are required for late endosomal-lysosomal fusion events and the delivery of endocytic cargo to lysosomes in human cells
  • VPS41 and VAMP7 are specifically involved in the fusion of trans-Golgi network-derived lysosome-associated membrane protein carriers with late endosomes
  • self-assembly of VPS41 promotes sorting required for biogenesis of the regulated secretory pathway
  • VPS41 is required for insulin secretory granules (SGs) biogenesis and regulated insulin secretion, and contributes to glucose homeostasis and metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • WDR91 competes with the VPS41 subunit of the HOPS complex, another RAB7 effector, for binding to RAB7, thereby facilitating RAB7-dependent lysosome fusion in a controlled manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR29
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with a deletion of Vps41 specifically in beta-cells develop diabetes due to severe depletion of insulin SG content and a defect in insulin secretion