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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
    Physical map
    BARHL1 9q34 BarH-like 1 (Drosophila) DDX31 9q34.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 GTF3C4 9q34.3 general transcription factor IIIC, polypeptide 4, 90kDa FLJ32704 9q34.3 hypothetical protein FLJ32704 C9orf9 9q34 chromosome 9 open reading frame 9 TSC1 9q34.1-q34.2 tuberous sclerosis 1 GFI1B 9q34.13 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) LOC158078 9q34 eukaryotic translation elongation factor 1 alpha 1 pseudogene LOC389801 9 LOC389801 GTF3C5 9q34 general transcription factor IIIC, polypeptide 5, 63kDa CEL 9q34.2 carboxyl ester lipase (bile salt-stimulated lipase) CELP 9q34.2-q34.3 carboxyl ester lipase pseudogene RALGDS 9q34.1-q34.2 ral guanine nucleotide dissociation stimulator FS 9q34 ral guanine nucleotide dissociation stimulator OBP2B 9q34 ral guanine nucleotide dissociation stimulator LOC286310 9q34.3 similar to Von Ebners gland protein precursor (VEG protein) (Tear prealbumin) (TP) (Tear lipocalin) (Lipocalin 1) ABO 9q34.1-q34.2 ABO blood group (transferase A, aplha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3galactosyltransferase) LOC392396 9 similar to Von Ebners gland protein precursor (VEG protein) (Tear prealbumin) (TP) (Tear lipocalin) (Lipocalin 1) SURF6 9q34.2 surfeit 6 SURF5 9q34.2 surfeit 5 RPL7A 9q34.2 ribosomal protein L7a SURF1 9q34.2 surfeit 1 SURF2 9q34.2 surfeit 2 SURF4 9q34.2 surfeit 4 ADAMTS13 9q34 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13 C9orf7 9q34 chromosome 9 open reading frame 7 SLC2A6 9q34 solute carrier family 2 (facilitated glucose transporter), member 6 DBH 9q34.2 dopamine beta-hydroxylase (dopamine beta-monooxygenase) SARDH 9q33-q34 sarcosine dehydrogenase VAV2 9q34.2 vav 2 oncogene
    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