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FLASH GENE
Symbol ABO last update : 05-10-2006
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
Synonym name
  • histo-blood group ABO system transferase
  • ABO blood type
  • B transferase
    • Synonym symbol(s) GTB, NAGAT, A3GALNT, A3GALT1
    EC.number 2.4.1.40, 2.4.1.37
    DNA RNA EXP/sub-loc PROTEIN PATHOLOGY
    DNA
    TYPE functioning gene
    STRUCTURE 20.07 kb     8 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
    kDaAAspecific expressionauthor
    NM_020469 8 - 1580
    40.9 354 - Thuresson (2008)
    -
    EXPRESSION / SUBCELLULAR LOCALIZATION
    EXPRESSION (based on citations)
       expressed in
    organ(s)
    SystemOrgan 1organ 2organ 3organ 4level
    Digestiveintestinesmall intestine   
    tissue
    SystemTissueS_TissueSs_Tissuelevel
    Epithelialbarrier/lining   
    cell lineage erythroid and epithelial lineages
    cell lines
    fluid/secretion
    at STAGE
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,peroxisome ,lumen,membrane
    intracellular,cytoplasm,organelle,Golgi ,lumen,membrane
    intracellular,nuclear envelope,lumen
    intracellular,nuclear envelope,matrix attachement regions
    text type II transmembrane protein
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP , RiboP
    HOMOLOGY
    interspecies
     
    intraspecies
     
    Homologene
    FAMILY
  • glycosyltransferase 6 family
    • CATEGORY antigen
    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)
    • implicated in a
    process
    cellular process
    physiological
    pathway
    metabolism carbohydrate
    signaling
    text glycosylation
    a component
    structural
    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
    Variant & Polymorphism
    Candidate gene
    Therapy target
    animal or cellular model