Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol VPS53 contributors: mct - updated : 29-08-2016
HGNC name vacuolar protein sorting 53 homolog (S. cerevisiae)
HGNC id 25608
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