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FLASH GENE
Symbol EXT1 contributors: mct/npt - updated : 25-05-2010
HGNC name exostosin 1
HGNC id 3512
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-acetylglucosamine I and II
  • glucoronyl transferase activities
    • conjugated GlycoP
    mono polymer heteromer , oligo
    HOMOLOGY
    interspecies homolog to murine ext1
    homolog to C.elegans F13h10.4
    homolog to Drosophila tout velu
    intraspecies homolog to EXT2
    Homologene
    FAMILY
  • exostosin family
  • glycosyltransferase 47 family
    • CATEGORY enzyme , regulatory , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • accumulating in the Golgi network
  • type 2 transmembrane glycoprotein
    • basic FUNCTION
  • glycosyltransferase having N-acetylglucosaminyl and glucoronyl transferase activity involved in the chain elongation in heparan sulfate/heparin biosynthesis
  • playing a role in axon guidance throught heparan sulfate
  • playing an important role in the pathogenesis of sporadic as well as hereditary osteochondromas
  • functioning as a heparan sulfate (HS) co-polymerase, and involved in elongation of glycosaminoglycan side chains on core proteins of HS proteoglycans
  • glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans (Roberts 2008)
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS ossification
    text participating to the development of cytoskeleton of chondrocytes
  • regulating endochondral ossification
    • PATHWAY
    metabolism carbohydrate
    signaling
    a component
  • oligomerizing with EXT2 constituent of a stable H5 (heparan sulfate) polymerase complex
  • with EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis (Busse 2007)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EXT1 , CDSM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    or germinal mutations in osteochondroma
    tumoral   LOH    
    in secondary chondrosarcoma
    tumoral somatic mutation      
    in hepatocellular carcinoma
    tumoral     --low  
    in acute promyelocytic and acute lymphoblastic leukemia, by hypermethylation associated to transcriptional silencing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS