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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
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