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Aliases for ABO Gene

Aliases for ABO Gene

  • ABO, Alpha 1-3-N-Acetylgalactosaminyltransferase And Alpha 1-3-Galactosyltransferase 2 3
  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase) 2 3
  • NAGAT 3 4
  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase Transferase B, Alpha 1-3-Galactosyltransferase) 5
  • Glycoprotein-Fucosylgalactoside Alpha-N-Acetylgalactosaminyltransferase 4
  • Fucosylglycoprotein Alpha-N-Acetylgalactosaminyltransferase 4
  • Glycoprotein-Fucosylgalactoside Alpha-Galactosyltransferase 4
  • Fucosylglycoprotein 3-Alpha-Galactosyltransferase 4
  • Histo-Blood Group ABO System Transferase 3
  • B(A) Alpha-1,3-Galactosyltransferase 3
  • Histo-Blood Group A2 Transferase 3
  • Histo-Blood Group A Transferase 4
  • Histo-Blood Group B Transferase 4
  • 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, Alpha 1-3-N-Acetylgalactosaminyltransferase And Alpha 1-3-Galactosyltransferase) is a Protein Coding gene. 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 GBGT1.

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

Enhancers for ABO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F133250 0.9 Ensembl ENCODE 36.1 +23.3 23290 3.2 KLF1 PKNOX1 KLF17 MAX ZFHX2 CTBP1 POLR2A ZNF366 TCF7L2 RFX1 ABO LCN1P1 SURF6 ENSG00000201451 ENSG00000230064 ADAMTS13 SURF1 OBP2B
GH09F133272 0.9 ENCODE 34.2 +0.5 549 3.5 HDGF NFRKB NFXL1 GLIS2 ZNF366 SMARCA5 ZBTB2 HCFC1 SMAD5 ZBTB11 ABO SETX SURF4 SURF6 ENSG00000201451 ENSG00000230064 LOC100130548 CACFD1 DDX31 GC09P133261
GH09F133267 0.2 ENCODE 33.2 +5.8 5812 2.8 HDGF HDAC1 ATF1 PKNOX1 TBL1XR1 CREB3L1 NFRKB KLF17 RAD21 GLIS2 ABO ENSG00000201451 ENSG00000230064 SURF6 MED22 RPL7A SNORD24 SNORD36A SNORD36B SNORD36C
GH09F133256 0.7 Ensembl ENCODE 30.3 +17.6 17610 1.7 PKNOX1 GLI4 ZNF2 ZNF48 GLIS2 KLF7 SP3 ZSCAN16 ZNF610 SMARCA4 ABO SETX EEF1A1P5 ENSG00000224992 GC09P133261 GC09P133262
GH09F133236 1 Ensembl ENCODE 29.2 +36.9 36910 3.4 HDGF ATF1 PKNOX1 ARID4B SIN3A ZNF2 ZNF121 GLIS2 ZNF143 KLF13 ABO SETX OBP2B EEF1A1P5 ENSG00000224992 LCN1P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers 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

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 IBA --
GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
GO:0046872 metal ion binding 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0009247 glycolipid biosynthetic process IBA --
GO:0030259 lipid glycosylation IBA --
genes like me logo Genes that share ontologies with ABO: view

No data available for SIGNOR curated interactions for ABO Gene

Drugs & Compounds for ABO Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
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

(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:

Inhibitory RNA Products

Clone Products

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 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).

NURSA nuclear receptor signaling pathways regulating expression of ABO Gene:

ABO

SOURCE GeneReport for Unigene cluster for ABO Gene:

Hs.654423
genes like me logo Genes that share expression patterns with ABO: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners 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 34
  • 98.49 (n)
rat
(Rattus norvegicus)
Mammalia Abo2 34
  • 78.35 (n)
cow
(Bos Taurus)
Mammalia ABO 34
  • 77.51 (n)
dog
(Canis familiaris)
Mammalia ABO 34
  • 76.42 (n)
mouse
(Mus musculus)
Mammalia Abo 34 16
  • 75.61 (n)
Species where no ortholog for ABO was found in the sources mined by GeneCards:
  • 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:

Pseudogenes.org Pseudogenes for ABO Gene

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

Variants for ABO Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABO Gene

BGAT_HUMAN-P16442
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 other 133,256,264(-) CCAGC(C/T)GGCCG reference, missense
rs55722397 other 133,256,031(-) TGCAC(C/G)CCGGC reference, missense
rs56392308 other 133,255,670(-) GAACC(-/C)GTGAG reference, frameshift-variant
rs8176747 other 133,255,928(-) GGGGG(C/G)GTTCT reference, missense
rs10117532 -- 133,276,253(+) gatca(C/G)ttgag upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1267e201 CNV deletion 23290073
dgv1268e201 CNV deletion 23290073
dgv12930n54 CNV gain 21841781
dgv12932n54 CNV loss 21841781
dgv951n27 CNV gain 19166990
esv21618 CNV loss 19812545
esv2659903 CNV deletion 23128226
esv2662639 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv3621936 CNV loss 21293372
nsv1125319 OTHER inversion 24896259
nsv415441 CNV deletion 16902084
nsv442166 CNV loss 18776908
nsv469905 CNV gain 18288195
nsv516103 CNV loss 19592680
nsv615616 CNV loss 21841781
nsv615617 CNV gain 21841781
nsv615621 CNV loss 21841781
nsv818729 CNV loss 17921354
nsv951798 CNV deletion 24416366

Relevant External Links for ABO Gene

Human Gene Mutation Database (HGMD)
ABO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABO

No data available for Variation tolerance for ABO Gene

Disorders for ABO Gene

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

No disorders were found for ABO Gene.

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

Publications for ABO Gene

  1. 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 4 22 64
  2. 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 22 64
  3. The structural basis for specificity in human ABO(H) blood group biosynthesis. (PMID: 12198488) Patenaude S.I. … Evans S.V. (Nat. Struct. Biol. 2002) 3 4 22 64
  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 22 64
  5. 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 22 64

Products for ABO Gene

Sources for ABO Gene

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