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FLASH GENE
Symbol WBSCR17 contributors: mct - updated : 23-12-2016
HGNC name Williams-Beuren syndrome chromosome region 17
HGNC id 16347
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ricin type beta trefoil domain
  • a glycosyltransferase domain
    • HOMOLOGY
    interspecies homolog to C.elegans R10h10.1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • located predominantly in the Golgi apparatus
    • basic FUNCTION
  • transferring sugar from UDP-N-acetylgalactosamine
  • brain-specific expression of WBSCR17 suggested its involvement in brain development, through O-glycosylation of proteins in the neurons
  • plays important roles in lamellipodium formation and the regulation of macropinocytosis as well as lysosomes
  • involved in O-glycosylation, which is involved in the uptake of extracellular fluid/solutes by a GlcNAc-dependent regulatory mechanism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    biosynthesis of disaccharides
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS