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FLASH GENE
Symbol ABO contributors: mct - updated : 27-08-2010
HGNC name ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3 galactosyltransferase)
HGNC id 79
Corresponding disease
ABO ABO blood group
Location 9q34.2      Physical location : 136.130.562 - 136.150.630
Synonym name
  • histo-blood group ABO system transferase
  • ABO blood type
  • histo-blood group B transferase
  • histo-blood group A transferase
  • glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
  • B(A) alpha-1,3-galactosyltransferase
    • Synonym symbol(s) GTB, NAGAT, A3GALNT, A3GALT1
    EC.number 2.4.1.40, 2.4.1.37
    DNA
    TYPE functioning gene
    STRUCTURE 20.07 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    motif
    text structure an alternative promoter
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1580 40.9 354 - 2008 18067502
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascular     
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cell lineage erythroid and epithelial lineages
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP , RiboP , Other
    HOMOLOGY
    Homologene
    FAMILY
  • glycosyltransferase 6 family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nuclear envelope,lumen
    intracellular,nuclear envelope,matrix attachement regions
    text type II transmembrane protein
    basic FUNCTION
  • histo-blood group ABO involving three carbohydrate antigens : A, B, and H (AB, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of udp-galnac) or to the B antigen (by addition of udp-gal), whereas O individuals lack such activity)
  • stabilize sialylated glycan clusters on erythrocyte membranes uniquely for each blood type, generating differential interactions of the 3 sialic acid-binding proteins with erythrocytes from each blood type
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosylation
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mn2+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ABO
    related resource Blood Group Antigen Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    and/or promoter hypermethylation is a specific marker for (TCC) transitional cell carcinoma of the bladder
    Susceptibility
  • to type 2 diabetes
  • to skin cancer
    • Variant & Polymorphism other
  • variants at ABO locus associated with the risk of type 2 diabetes, independent of sE-selectin levels (blood group B associated with a decreased risk compared with blood group O)
  • non-O blood group was associated with a decreased risk of skin cancer
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    ANIMAL & CELL MODELS