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FLASH GENE
Symbol VPS53 contributors: mct - updated : 29-08-2016
HGNC name vacuolar protein sorting 53 homolog (S. cerevisiae)
HGNC id 25608
Corresponding disease
PCH2E Pontocerebellar hypoplasia, type 2E
Location 17p13.3      Physical location : 411.907 - 618.096
Synonym name
  • hepatocellular carcinoma suppressor 1 (see TSG17A)
  • VPS53 protein
  • Golgi-associated retrograde protein complex
    • Synonym symbol(s) HCCS1, FLJ10979, MGC39512, pp13624, hVps53L, GARP
    DNA
    TYPE functioning gene
    STRUCTURE 206.19 kb     18 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 13106 - 832 - 2010 20685960
    18 - 2694 - 670 - 2010 20685960
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Lymphoid/Immunespleen    
    Reproductivefemale systemuteruscervix  
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal fragment, important for binding endosome-derived vesicles, consists of two alpha-helical bundles arranged in tandem, with a highly conserved surface patch, which may play a role in vesicle recognition
    • HOMOLOGY
    Homologene
    FAMILY
  • VPS53 family
    • CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • hepatocellular carcinoma suppressor gene
  • orchestrates retrograde transport from endosomes to the TGN by promoting vesicle tethering and assembly of SNARE complexes in consecutive, independent steps
  • Golgi-associated retrograde protein (GARP) complex, which functions in endosome-to-Golgi retrograde vesicular transport, as a critical player in sphingolipid homeostasis
  • is essential for cellular sphingolipid homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TSSC1 is required for efficient recruitment of GARP (composed of VPS51, VPS52, VPS53 and VPS54 subunits) to the TGN
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PCH2E
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in hepatocellular carcinoma
    tumoral     --low  
    in multiple tumor (cervical cancer)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS