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FLASH GENE
Symbol B3GALT6 contributors: mct - updated : 12-07-2013
HGNC name UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
HGNC id 17978
Corresponding disease
SEMDJL1 spondyloepimetaphyseal dysplasia with joint laxity 1
Location 1p36.33      Physical location : 1.167.628 - 1.170.418
Synonym name
  • beta-1,3-galactosyltransferase-6
  • galactosylxylosylprotein 3-beta-galactosyltransferase
  • galactosyltransferase II
    • Synonym symbol(s) beta3GalT6
    EC.number 2.4.1.134
    DNA
    TYPE functioning gene
    STRUCTURE 2.79 kb     1 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure one coding exon
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2793 37 329 - 2001 11210191
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveintestine   highly
    Reproductivemale systemtestis  lowly
    Skeleton    highly Homo sapiens
    Skin/Tegumentskin   moderately Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly Homo sapiens
    Connectivecartilage  highly Homo sapiens
    Connectivedenseligament moderately Homo sapiens
    Connectivedensetendon moderately Homo sapiens
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text low in embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N linked glycosylation site
    • HOMOLOGY
    interspecies homolog to Drosophila brainiac
    homolog to murine B3galt6
    Homologene
    FAMILY
  • glycosyltransferase 31 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • transfer of galactose from UDP-galactose acceptors containing a terminal beta-linked galactose residue
  • galactosyltransferase activity
  • plays a critical role in a wide range of biological processes in various tissues, including skin, bone, cartilage, tendon, and ligament
  • crucial role for B3GALT6 in multiple major developmental and pathophysiological processes
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text involved in the glycosaminoglycan biosynthesis
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SEMDJL1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS