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FLASH GENE
Symbol GALNT5 contributors: mct - updated : 10-06-2011
HGNC name UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)
HGNC id 4127
Location 2q24.2      Physical location : 158.114.339 - 158.167.912
Synonym name galactosamine:UDPN-acetyl-alpha-D-polypeptide T5
Synonym symbol(s) NAGALT5, GALNAC-T5
EC.number 2.4.1.41
DNA
TYPE functioning gene
STRUCTURE 53.00 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 3131 - 940 - 2010 20977886
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue   
Respiratorylung    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a GT1 motif
  • Ga1/Ga1 NAc transferase motif
  • one ricin B-type lectin domain
  • two conserved domains in the glycosyltransferase region
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Galnt5
    homolog to rattus galnt5
    homolog to chimpanzee LOC470563
    Homologene
    FAMILY
  • glycosyltransferase 2 family
  • GALNAc transferase subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text type II membrane protein
    basic FUNCTION
  • catalyzing the initial reaction in O-linked (mucin type) oligosaccharide biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosylation
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • calcium Ca2+
  • manganese Mn2+
  • protein interacting with EXT2
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene a defective interaction between EXT2 and GALNT5 is a diagnostic tool in hereditary multiple exostoses
    Marker
    Therapy target
    ANIMAL & CELL MODELS