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FLASH GENE
Symbol VPS54 contributors: mct - updated : 29-08-2016
HGNC name vacuolar protein sorting 54 (yeast)
HGNC id 18652
Location 2p15      Physical location : 64.119.667 - 64.246.214
Synonym name
  • tumor antigen SLP-8p
  • hepatocellular carcinoma protein 8
  • protein phosphatase 1, regulatory subunit 164
  • Synonym symbol(s) HCC8, SLP-8p, VPS54L, PPP1R164, WR, hVps54L
    DNA
    TYPE functioning gene
    STRUCTURE 127.27 kb     22 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
    23 - 3958 - 965 - -
    23 - 3994 - 977 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node    
    Nervousbrain    
    Reproductivemale systemtestis   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cell lineage
    cell lines hepatocellular carcinoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a coiled-coil region
  • eight to thirth dileucine motifs
  • HOMOLOGY
    interspecies homolog to murine Vps54
    homolog to rattus LOC289826
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in intracellular protein sorting
  • orchestrates retrograde transport from endosomes to the TGN by promoting vesicle tethering and assembly of SNARE complexes in consecutive, independent steps
  • vesicular sorting protein involved in the retrograde traffic
  • Golgi-associated retrograde protein (GARP) complex, which functions in endosome-to-Golgi retrograde vesicular transport, as a critical player in 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 ANG2, VPS52, VPS53 and VPS54 subunits) to the TGN
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Vps54 null mutation in mouse causes embryonic lethality, which is associated with extensive membrane blebbing in the neural tube and is most likely a consequence of impaired vesicle transport