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    ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) [ Homo sapiens (human) ]

    Gene ID: 28, updated on 19-Jul-2016
    Official Symbol
    ABOprovided by HGNC
    Official Full Name
    ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)provided by HGNC
    Primary source
    HGNC:HGNC:79
    See related
    Ensembl:ENSG00000175164 HPRD:05821; MIM:110300
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GTB; NAGAT; A3GALNT; A3GALT1
    Summary
    This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    9q34.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (133255176..133275214, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136130563..136150630, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene lipocalin 1 pseudogene 1 Neighboring gene uncharacterized LOC107987136 Neighboring gene lipocalin 1 pseudogene 2 Neighboring gene surfeit 6

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    ABO blood group system
    MedGen: C0000778 OMIM: 616093 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
    NHGRI GWA Catalog
    A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
    NHGRI GWA Catalog
    A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
    NHGRI GWA Catalog
    A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
    NHGRI GWA Catalog
    A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
    NHGRI GWA Catalog
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    A genome-wide association study identifies two new risk loci for Graves' disease.
    NHGRI GWA Catalog
    A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.
    NHGRI GWA Catalog
    A genome-wide association study of circulating galectin-3.
    NHGRI GWA Catalog
    A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
    NHGRI GWA Catalog
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.
    NHGRI GWA Catalog
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    NHGRI GWA Catalog
    Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
    NHGRI GWA Catalog
    Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.
    NHGRI GWA Catalog
    Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
    NHGRI GWA Catalog
    Genetics of venous thrombosis: insights from a new genome wide association study.
    NHGRI GWA Catalog
    Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
    NHGRI GWA Catalog
    Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
    NHGRI GWA Catalog
    Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
    NHGRI GWA Catalog
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
    NHGRI GWA Catalog
    Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
    NHGRI GWA Catalog
    Imputation-based meta-analysis of severe malaria in three African populations.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
    NHGRI GWA Catalog
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    NHGRI GWA Catalog
    Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
    NHGRI GWA Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    NHGRI GWA Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fucosylgalactoside 3-alpha-galactosyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    histo-blood group ABO system transferase
    Names
    A1-specific alpha 1-3-N-acetylgalactosaminyltransferase
    ABO A3 transferase
    ABO glycosyltransferase
    ABO weak transfer
    B(A) alpha-1,3-galactosyltransferase
    Transferase
    fucosylglycoprotein
    fucosylglycoprotein 3-alpha-galactosyltransferase
    fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase
    glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
    glycoprotein-fucosylgalactoside alpha-galactosyltransferase
    glycosyltransferase A
    glycosyltransferase B
    histo-blood group A transferase
    histo-blood group A2 transferase
    histo-blood group B transferase
    transferase A
    NP_065202.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_006669.1 RefSeqGene

      Range
      2420..22492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020469.2NP_065202.2  histo-blood group ABO system transferase

      See identical proteins and their annotated locations for NP_065202.2

      Status: REVIEWED

      Source sequence(s)
      AF134412, AV761252, U15197
      UniProtKB/Swiss-Prot
      P16442
      UniProtKB/TrEMBL
      A0A089QDC1
      Related
      ENSP00000483265, ENST00000611156
      Conserved Domains (1) summary
      cd02515
      Location:81352
      Glyco_transf_6; Glycosyltransferase family 6 comprises enzymes responsible for the production of the human ABO blood group antigens

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      133255176..133275214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p7 PATCHES

      Range
      81269..101308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      136280691..136300722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)