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GCID:
GC09M133250
GIFtS:
55

ABO Gene(Protein Coding)

ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase)

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
  • Histo-Blood Group ABO System Transferase 3
  • B(A) Alpha-1,3-Galactosyltransferase 3
  • Histo-Blood Group A2 Transferase 3
  • ABO Glycosyltransferase 3
  • ABO A3 Transferase 3
  • ABO Weak Transfer 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 blood group incompatibility and malaria. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. GO annotations related to this gene include glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity and fucosylgalactoside 3-alpha-galactosyltransferase activity.

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

Genomic Location for ABO Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Mn(2+) ion per subunit.;
    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
  • Glycosylation at Asn113
  • Modification sites at PhosphoSitePlus

Other Protein References for ABO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ABO Gene

Domains for ABO Gene

Gene Families for ABO Gene

HGNC:
  • GLT6 :Glycosyltransferase family 6 domain containing
  • bloodgroup :Blood group antigens

Protein Domains for ABO Gene

Graphical View of Domain Structure for InterPro Entry

P16442

UniProtKB/Swiss-Prot:

BGAT_HUMAN :
  • P16442
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 --
GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity IEA --
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ABO: view

Phenotypes for ABO Gene

GenomeRNAi human phenotypes for ABO:
genes like me logo Genes that share phenotypes with ABO: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABO

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABO Gene COMPARTMENTS Subcellular localization image for ABO gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with ABO: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006486 protein glycosylation IEA --
genes like me logo Genes that share ontologies with ABO: view

Compounds for ABO Gene

(5) HMDB Compounds for ABO Gene

Compound Synonyms Cas Number PubMed IDs
Lactosamine
  • beta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
13000-25-4
Manganese
  • manganese
7439-96-5
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphategalactose
  • GDU
2956-16-3
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-acetyl-D-galactosamine
7277-98-7

(12) Novoseek inferred chemical compound relationships for ABO Gene

Compound -log(P) Hits PubMed IDs
udp-n-acetylgalactosamine 67.8 1
udpglucose 62.2 6
galalpha(1,3)gal 58.6 1
galactose 54.4 2
de-oxy 41.1 1

(1) PharmGKB related drug/compound annotations for ABO Gene

Drug/compound Annotation
"Ace Inhibitors, Plain" CA
genes like me logo Genes that share compounds with ABO: view

Transcripts 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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABO

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ABO
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for ABO Gene

This gene is overexpressed in Colon - Transverse (8.6), Esophagus - Mucosa (4.8), and Small Intestine - Terminal Ileum (4.4).

SOURCE GeneReport for Unigene cluster for ABO Gene Hs.654423

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

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein expression and mRNA Expression by UniProt/SwissProt 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

Selected SIMAP similar genes for ABO Gene using alignment to 242 proteins:

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

No data available for Paralogs for ABO Gene

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 MAF
rs473533 -- 133,272,620(+) ttaaa(C/T)aagtt intron-variant
rs474279 -- 133,264,214(+) CTGGC(C/T)GCATC intron-variant
rs475419 -- 133,272,816(+) ACTTA(C/T)GTCTT intron-variant
rs476410 -- 133,272,953(+) AAAAA(C/G)TCTCT intron-variant
rs488775 -- 133,269,122(+) TAACA(A/G)ACAGA intron-variant

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
Locus Specific Mutation Databases (LSDB)
ABO

Disorders for ABO Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for ABO Gene including...

Search for ABO Gene in MalaCards »

(4) University of Copenhagen DISEASES for ABO Gene

(7) Novoseek inferred disease relationships for ABO Gene

Disease -log(P) Hits PubMed IDs
gastric cancer 31.2 7
bladder tumors 27.9 1
myeloid leukemia chronic 22.9 2
cholera 0.658 1
tumors 0 6

Relevant External Links for ABO

Genetic Association Database (GAD)
ABO
Human Genome Epidemiology (HuGE) Navigator
ABO
genes like me logo Genes that share disorders with ABO: view

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

Publications for ABO Gene

  1. Cloning and characterization of DNA complementary to human UDP- GalNAc: Fuc alpha 1-->2Gal alpha 1-->3GalNAc transferase (histo-blood group A transferase) mRNA. (PMID: 2104828) Yamamoto F. … Hakomori S. (J. Biol. Chem. 1990) 3 4 23
  2. Molecular genetic basis of the histo-blood group ABO system. (PMID: 2333095) Yamamoto F. … Hakomori S. (Nature 1990) 3 4 23
  3. Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. (PMID: 2121736) Yamamoto F. … Hakomori S. (J. Biol. Chem. 1990) 3 4 23
  4. 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
  5. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. (PMID: 12529355) Marcus S.L. … Palcic M.M. (J. Biol. Chem. 2003) 3 4 23

Products for ABO Gene

Sources for ABO Gene

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