Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ABO Gene

Aliases for ABO Gene

  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase) 2 3
  • Glycoprotein-Fucosylgalactoside Alpha-N-Acetylgalactosaminyltransferase 3 4
  • Fucosylglycoprotein Alpha-N-Acetylgalactosaminyltransferase 3 4
  • Glycoprotein-Fucosylgalactoside Alpha-Galactosyltransferase 3 4
  • Fucosylglycoprotein 3-Alpha-Galactosyltransferase 3 4
  • Histo-Blood Group A Transferase 3 4
  • Histo-Blood Group B Transferase 3 4
  • NAGAT 3 4
  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase Transferase B, Alpha 1-3-Galactosyltransferase) 5
  • A1-Specific Alpha 1-3-N-Acetylgalactosaminyltransferase 3
  • B(A) Alpha-1,3-Galactosyltransferase 3
  • Histo-Blood Group A2 Transferase 3
  • ABO Glycosyltransferase 3
  • Glycosyltransferase A 3
  • Glycosyltransferase B 3
  • Fucosylglycoprotein 3
  • ABO A3 Transferase 3
  • ABO Weak Transfer 3
  • Transferase A 3
  • A Transferase 4
  • B Transferase 4
  • EC 2.4.1.40 4
  • EC 2.4.1.37 4
  • A3GALNT 3
  • A3GALT1 3
  • GTB 3

External Ids for ABO Gene

Previous GeneCards Identifiers for ABO Gene

  • GC09M127220
  • GC09M127687
  • GC09M129484
  • GC09M131407
  • GC09M133160
  • GC09M135120
  • GC09M136130
  • GC09M105623

Summaries for ABO Gene

Entrez Gene Summary for ABO Gene

  • 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]

GeneCards Summary for ABO Gene

ABO (ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase)) is a Protein Coding gene. Diseases associated with ABO include congenital disorder of glycosylation, type iid. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. GO annotations related to this gene include transferase activity, transferring hexosyl groups and fucosylgalactoside 3-alpha-galactosyltransferase activity. An important paralog of this gene is GLT6D1.

UniProtKB/Swiss-Prot for ABO Gene

  • This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, 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.

Gene Wiki entry for ABO Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABO Gene

Genomics for ABO Gene

Regulatory Elements for ABO Gene

Promoters for ABO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABO on UCSC Golden Path with GeneCards custom track

Genomic Location for ABO Gene

Chromosome:
9
Start:
133,250,401 bp from pter
End:
133,275,214 bp from pter
Size:
24,814 bases
Orientation:
Minus strand

Genomic View for ABO Gene

Genes around ABO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABO Gene

Proteins for ABO Gene

  • Protein details for ABO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16442-BGAT_HUMAN
    Recommended name:
    Histo-blood group ABO system transferase
    Protein Accession:
    P16442
    Secondary Accessions:
    • B0JDB9
    • O14758
    • Q14490
    • Q53I57
    • Q6ISD4
    • Q6KFZ2
    • Q70V27
    • Q99484
    • Q99485
    • Q9NY01
    • Q9UQ68
    • Q9UQ69

    Protein attributes for ABO Gene

    Size:
    354 amino acids
    Molecular mass:
    40934 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ABO Gene

neXtProt entry for ABO Gene

Proteomics data for ABO Gene at MOPED

Post-translational modifications for ABO Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ABO Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABO Gene

Domains & Families for ABO Gene

Protein Domains for ABO Gene

Graphical View of Domain Structure for InterPro Entry

P16442

UniProtKB/Swiss-Prot:

BGAT_HUMAN :
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis.
  • Belongs to the glycosyltransferase 6 family.
Domain:
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis.
Family:
  • Belongs to the glycosyltransferase 6 family.
genes like me logo Genes that share domains with ABO: view

Function for ABO Gene

Molecular function for ABO Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-alpha-beta-D-galactosamine + glycoprotein-alpha-L-fucosyl-(1->2)-D-galactose = UDP + glycoprotein-N-acetyl-alpha-D-galactosaminyl-(1->3)-(alpha-L-fucosyl-(1->2))-beta-D-galactose.
UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-galactose + alpha-L-fucosyl-(1->2)-D-galactosyl-R = UDP + alpha-D-galactosyl-(1->3)-(alpha-L-fucosyl-(1->2))-D-galactosyl-R.
UniProtKB/Swiss-Prot Function:
This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, 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.

Enzyme Numbers (IUBMB) for ABO Gene

Gene Ontology (GO) - Molecular Function for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004380 glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA --
genes like me logo Genes that share ontologies with ABO: view
genes like me logo Genes that share phenotypes with ABO: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABO Gene

Localization for ABO Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABO Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.

Gene Ontology (GO) - Cellular Components for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ABO: view

No data available for Subcellular locations from COMPARTMENTS for ABO Gene

Pathways & Interactions for ABO Gene

genes like me logo Genes that share pathways with ABO: view

Pathways by source for ABO Gene

UniProtKB/Swiss-Prot P16442-BGAT_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ABO Gene

Gene Ontology (GO) - Biological Process for ABO Gene

None

No data available for SIGNOR curated interactions for ABO Gene

Drugs & Compounds for ABO Gene

(20) Drugs for ABO Gene - From: DrugBank, HMDB, PharmGKB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphategalactose Experimental Pharma Target 0
Uridine-5'-Diphosphate Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,5-Diol Experimental Pharma Target 0
4-AMINO-2-HEXYLOXY-6-HYDROXYMETHYL-TETRAHYDRO-PYRAN-3,5-DIOL Experimental Pharma Target 0

(9) Additional Compounds for ABO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-Amino-2-deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-Amino-2-deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with ABO: view

Transcripts for ABO Gene

mRNA/cDNA for ABO Gene

Unigene Clusters for ABO Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABO Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: - - - -
SP4:

Relevant External Links for ABO Gene

GeneLoc Exon Structure for
ABO
ECgene alternative splicing isoforms for
ABO

Expression for ABO Gene

mRNA expression in normal human tissues for ABO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABO Gene

This gene is overexpressed in Colon - Transverse (x8.6), Esophagus - Mucosa (x4.8), and Small Intestine - Terminal Ileum (x4.4).

SOURCE GeneReport for Unigene cluster for ABO Gene Hs.654423

genes like me logo Genes that share expression patterns with ABO: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ABO Gene

Orthologs for ABO Gene

This gene was present in the common ancestor of mammals.

Orthologs for ABO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABO 35
  • 98.49 (n)
  • 98.31 (a)
cow
(Bos Taurus)
Mammalia ABO 35
  • 77.51 (n)
  • 72.38 (a)
dog
(Canis familiaris)
Mammalia ABO 35
  • 76.42 (n)
  • 69.89 (a)
mouse
(Mus musculus)
Mammalia Abo 35
  • 75.61 (n)
  • 75.91 (a)
Abo 16
rat
(Rattus norvegicus)
Mammalia Abo2 35
  • 78.35 (n)
  • 76.22 (a)
Species with no ortholog for ABO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ABO Gene

ENSEMBL:
Gene Tree for ABO (if available)
TreeFam:
Gene Tree for ABO (if available)

Paralogs for ABO Gene

Paralogs for ABO Gene

(4) SIMAP similar genes for ABO Gene using alignment to 242 proteins:

genes like me logo Genes that share paralogs with ABO: view

Variants for ABO Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABO Gene

P16442-BGAT_HUMAN
Genetic variations in ABO define the ABO blood group system [MIM:616093]. The ABO blood group system is the most important blood group system in blood transfusion. The sequence shown here is that of the A transferase. The B form differs by a few residues substitution. Residues 266 and 268 are important for specificity. The O phenotype results from a single base frameshift in the N-terminal extremity of the gene, resulting in a severly truncated protein without catalytic activity.

Sequence variations from dbSNP and Humsavar for ABO Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1053878 - 133,256,264(-) CCAGC(C/T)GGCCG reference, missense
rs7853989 - 133,256,205(+) GGCGC(A/C/G)CACCT reference, missense
rs8176743 - 133,256,028(-) ACCCC(A/G)GCTTC reference, missense
rs8176746 - 133,255,935(-) ACTAC(A/C/T)TGGGG reference, missense
rs8176747 -, - 133,255,928(-) GGGGG(C/G)GTTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ABO Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
dgv8323n71 CNV Gain 21882294
dgv951n27 CNV Gain 19166990
nsv469905 CNV Gain 18288195
nsv894055 CNV Loss 21882294
nsv894056 CNV Gain 21882294
nsv894057 CNV Gain 21882294
nsv894058 CNV Loss 21882294
dgv8325n71 CNV Loss 21882294
nsv894060 CNV Loss 21882294
esv2659903 CNV Deletion 23128226
esv21618 CNV Loss 19812545
nsv442166 CNV CNV 18776908
nsv894061 CNV Gain 21882294
nsv894062 CNV Gain 21882294
dgv1325e201 CNV Deletion 23290073
dgv1326e201 CNV Deletion 23290073
esv2662639 CNV Deletion 23128226
nsv415441 CNV Loss 16902084
nsv894063 CNV Gain 21882294
nsv516103 CNV Loss 19592680
nsv818729 CNV Loss 17921354
nsv894064 CNV Gain 21882294
nsv894065 CNV Loss 21882294
nsv894066 CNV Loss 21882294
dgv8326n71 CNV Loss 21882294
nsv894070 CNV Gain+Loss 21882294
dgv8327n71 CNV Loss 21882294

Relevant External Links for ABO Gene

HapMap Linkage Disequilibrium report
ABO
Human Gene Mutation Database (HGMD)
ABO

No data available for Variation tolerance for ABO Gene

Disorders for ABO Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABO Gene - From: OMIM

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iid
  • congenital disorder of glycosylation 2d
- elite association - COSMIC cancer census association via MalaCards
Search ABO in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABO

Genetic Association Database (GAD)
ABO
Human Genome Epidemiology (HuGE) Navigator
ABO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABO
genes like me logo Genes that share disorders with ABO: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABO Gene

Publications for ABO Gene

  1. The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity. (PMID: 10462501) Yu L.C. … Lin M. (Biochem. Biophys. Res. Commun. 1999) 3 4 23 67
  2. Binding of an acceptor substrate analog enhances the enzymatic activity of human blood group B galactosyltransferase. (PMID: 20154292) Sindhuwinata N. … Peters T. (Glycobiology 2010) 3 23
  3. Molecular genetic analysis for the B subgroup revealing two novel alleles in the ABO gene. (PMID: 18680548) Cai X.H. … Xiang D. (Transfusion 2008) 3 23
  4. A 425T>C mutation in the B allele for the ABO transferase is associated with the B3 phenotype in Han Chinese persons. (PMID: 19054377) Zhu F. … Yan L. (Transfusion 2008) 3 23
  5. Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif. (PMID: 17259183) Persson M. … Olsson M.L. (J. Biol. Chem. 2007) 3 23

Products for ABO Gene

Sources for ABO Gene

Back to Top

Content