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FLASH GENE
Symbol GALNT8 contributors: - updated : 10-06-2011
HGNC name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
HGNC id 4130
Location 12p13.3      Physical location : 4.829.751 - 4.881.892
Synonym name GalNac transferase 8
Synonym symbol(s) GALNAC-T8
EC.number 2.4.1.41
DNA
TYPE functioning gene
STRUCTURE 52.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see FGF6
regionally located located in the region of autosomal dominant hypophosphalimic rickets
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 5000 - - - White
11 - 2135 71.3 637 widely 2010 20977886
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • near the N terminus, a stem region
  • a lumenal catalytic domain containing a GT1 motif and Ga1/Ga1 NAc transferase motif
  • a C terminal ricin/lectin-like domain, including a QXW lectin repeat
  • HOMOLOGY
    Homologene
    FAMILY GALNAc-transferase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • catalyzing the initial reaction in O-linked (mucin type) oligosaccharide biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • calcium Ca2+
  • manganese Mn2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS