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FLASH GENE
Symbol CHSY1 contributors: mct - updated : 22-04-2009
HGNC name chondroitin sulfate synthase 1
HGNC id 17198
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one transmembrane domain
  • a Fringe motif (intact Fringe domain required to execute its function)
  • a glycosyltransferase domain
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to C.elegans cosmid T24DI
    intraspecies homolog to CSS3
    Homologene
    FAMILY
  • chondroitin N- acetylgalactosaminyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text type 2 membrane protein
    basic FUNCTION
  • synthesizing chondroitin sulfate, a glycosaminoglycan expressed on the surface of most cells and in extracellular matrices
  • possess GalNAcT-II (N-acetylgalactosaminyltransferase-II) and GlcAT-II (glucuronyltransferase-II) activities responsible for the elongation of CS (chondroitin sulfate) chains but cannot polymerize chondroitin chains by themselves
  • having both the glucuronyltransferase II and N-acetylgalactosaminyl-transferase II activities required for the synthesis of the repeating disaccharide unit of chondroitin sulfate
  • secreted FRINGE enzyme required for adjustment of NOTCH signaling throughout embryogenesis and particularly during limb patterning
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interactions between any two of CHSY1, CHSY3 and CHPF (co-expression of CHSY1 with CHPF resulted in a marked augmentation of glycosyltransferase activities and the expression of the chondroitin polymerase activity of HSY1)
  • inhibits the NOTCH pathway in the extracellular space via its Fringe domain
  • cell & other
    REGULATION
    repressed by BMP signaling (negative role of BMP signaling on CHSY1 expression and the negative role of CHSY1 on Notch signaling)
    ASSOCIATED DISORDERS
    corresponding disease(s) TPBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS