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FLASH GENE
Symbol EXT1 contributors: mct/npt - updated : 25-05-2010
HGNC name exostosin 1
HGNC id 3512
Corresponding disease
CDSM chondrosarcoma
EXT1 exostoses, multiple, 1
Location 8q24.11      Physical location : 118.811.601 - 119.124.058
Synonym name
  • exostoses (multiple) 1
  • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
  • N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
  • multiple exostoses protein 1
  • putative tumor suppressor protein EXT1
  • Langer-Giedion syndrome chromosome region
  • Synonym symbol(s) EXT, ttv, LGCR, LGS
    EC.number 2.4.1.224, 2.4.1.225
    DNA
    TYPE functioning gene
    STRUCTURE 312.46 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure housekeeping
    MAPPING cloned Y linked Y status confirmed
    Physical map
    TRPS1 8q24.11 trichorhinophalangeal syndrome I EIF3S3 8q24.13 eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa MGC14595 8q24.11 hypothetical protein MGC14595 RAD21 8q24.11 RAD21 homolog (S. pombe) SLC30A8 8q24.11 solute carrier family 30 (zinc transporter), member 8 TRAP25 EXT1 8q24.11 exostoses (multiple) 1 LOC392263 8 similar to RIKEN cDNA A830094I09 gene LOC286091 8q24.12 similar to 40S ribosomal protein S26 TNFRSF11B 8q24.13 tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) COLEC10 8q24.13 collectin sub-family member 10 (C-type lectin) MAL2 8q23 mal, T-cell differentiation protein 2 NOV 8q24.1 nephroblastoma overexpressed gene LOC392264 8 hypothetical gene supported by AK122835 ENPP2 8q24.13 ectonucleotide pyrophosphatase/phosphodiesterase 2 (autotaxin) HCP23 8q24.12 cytochrome c, somatic pseudogene TAF2 8q24.12 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa MGC5528 8q24.12 defective in sister chromatid cohesion homolog 1 (S. cerevisiae) MGC14407 8q24.12 hypothetical protein MGC14407 FLJ12428 8q24.12 hypothetical protein FLJ12428 LOC389682 8 similar to collagen type XIV COL14A1 8q24.13 collagen, type XIV, alpha 1 (undulin) MRPL13 8q22.1-q22.3 mitochondrial ribosomal protein L13 MTBP 8q24.1-q24.2 Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa SNTB1 8q24.13 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3376 - 746 - Ludecke (1997)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx   highly
    Endocrinethyroid   highly
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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