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FLASH GENE
Symbol CSGALNACT1 contributors: npt/shn - updated : 08/05/2011
HGNC name chondroitin sulfate N-acetylgalactosaminyltransferase 1
HGNC id 24290
Location 8p21.3      Physical location : 19.261.672 - 19.540.261
Synonym name
  • chondroitin beta1
  • 4 N-acetylgalactosaminyltransferase
  • beta4GalNAcT-1
  • chondroitin beta-1
  • Synonym symbol(s) CSGalNAcT-1, FLJ11264, ChGn, FLJ13760, GALNACT1, Beta4GalNAcT-1; UNQ656/PRO1287, beta4Ga
    EC.number 2.4.1.174
    DNA
    TYPE functioning gene
    STRUCTURE 278.42 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - D8S549 - D8S261 - CSGALNACT1 - D8S1715 - D8S258 - cen
    RNA
    TRANSCRIPTS type messenger
    text Variants 1 and 2 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 4299 - 532 - -
    10 splicing 3889 - 532 - -
    3968 splicing 8
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestinelarge intestinecolon moderately Homo sapiens
     intestinesmall intestine  highly Homo sapiens
     liver   highly Homo sapiens
    Lymphoid/Immunespleen   moderately Homo sapiens
     thymus   moderately Homo sapiens
    Nervousbrain   highly Homo sapiens
    Reproductivefemale systemplacenta  highly Homo sapiens
    Respiratorylung   highly Homo sapiens
    Urinarykidney   moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to Csgalnact1, Mus musculus
    ortholog to Csgalnact1, Rattus norvegicus
    ortholog to CSGALNACT1, Pan troglodytes
    Homologene
    FAMILY
  • chondroitin N-acetylgalactosaminyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text type II membrane protein
    basic FUNCTION
  • transferring 1,4-N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the nonreducing end of glucuronic acid (GlcUA)
  • . required for addition of the first GalNAc to the core tetrasaccharide linker and for elongation of chondroitin chains
  • involved in the biosynthetic initiation and elongation of chondroitin sulfate and is the key enzyme responsible for the selective chain assembly of chondroitin/dermatan sulfate on the linkage region tetrasaccharide common to various proteoglycans containing chondroitin/dermatan sulfate or heparin/heparan sulfate chains
  • involved in glycosaminoglycan chain synthesis or modifications
  • required for normal chondroitin sulfate production in developing cartilage
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    text
  • neurogenesis
  • morphogenesis
  • extracellular matrix organization and biogenesis
  • PATHWAY
    metabolism
    signaling
  • heparin biosynthesis
  • chondroitin sulfate biosynthesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • CSGalNAcT1 null mice display both reduced chondroitin sulfate and amount of short-chain chondroitin sulfate producion by half, smaller cartilage and abnormally aggregated and disarranged type-II collagen fibres in developing cartilage