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FLASH GENE
Symbol VPS13B contributors: mct - updated : 14-11-2012
HGNC name vacuolar protein sorting 13 homolog B (yeast)
HGNC id 2183
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C-terminal fragment of 315 aa involved in the localization to the Golgi (important role of the VPS13B in Golgi maintenance)
    • HOMOLOGY
    interspecies homolog to murine Vps13b
    Homologene
    FAMILY
  • VPS13 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text peripheral Golgi membrane protein, overlapping with the cis-Golgi matrix protein GOLGA2
    basic FUNCTION
  • may be involved in vesicle-mediated sorting and intracellular protein transport
  • may be playing a role in the development and the function of the eye, hematological system, and central nervous system
  • Golgi-associated matrix protein required for Golgi integrity
  • peripheral protein required for Golgi maintenance and loss of Golgi integrity contributes to the pathology of Cohen syndrome
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • zn2+
    • protein
  • peripheral Golgi membrane protein that strongly co-localizes with the cis-Golgi matrix protein GOLGA2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COH1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS