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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 5
  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase) 2 3
  • NAGAT 3 4
  • 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 Globo Sphingolipid Metabolism and Hematopoietic Stem Cell Differentiation. Gene Ontology (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

Additional gene information for ABO Gene

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

Genomics for ABO Gene

GeneHancer (GH) Regulatory Elements for ABO Gene

Promoters and enhancers for ABO Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I133272 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 584.2 +0.5 549 3.5 HDAC1 HDGF SMAD5 ZBTB11 REST ELF1 ZNF592 MBD2 IKZF1 NR2C1 ABO ENSG00000201451 ENSG00000230064 SURF6 CACFD1 DDX31 GC09P133261 GC09P133262
GH09I133236 Enhancer 1.4 Ensembl ENCODE dbSUPER 29.2 +37.0 36955 3.3 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF2 GLIS2 ZNF143 KLF13 SP3 ABO SETX BRD3OS OBP2B MED22 RPL7A EEF1A1P5 LCN1P1
GH09I133250 Enhancer 1.1 Ensembl ENCODE dbSUPER 36.1 +23.3 23290 3.2 KLF1 NFIB MAX KLF17 BMI1 ZFHX2 CTBP1 POLR2A TCF7L2 SMARCE1 OBP2B ABO LCN1P1 SURF6 ENSG00000201451 ENSG00000230064 ADAMTS13 SURF1
GH09I133267 Enhancer 0.9 ENCODE 33.2 +5.8 5811 2.8 HDAC1 HDGF PKNOX1 ATF1 TAF9B NFRKB ZBTB40 TCF12 ZNF766 EGR1 ABO SURF6 ENSG00000201451 ENSG00000230064 MED22 RPL7A SNORD24 SNORD36C SNORD36B SNORD36A
GH09I133256 Enhancer 0.5 ENCODE 30.4 +17.6 17609 1.7 NFIC IKZF1 ZBTB33 NFE2 MAFK RARA ABO GC09P133261 GC09P133262
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABO gene promoter:

Genomic Locations for ABO Gene

Genomic Locations for ABO Gene
chr9:133,250,401-133,275,214
(GRCh38/hg38)
Size:
24,814 bases
Orientation:
Minus strand
chr9:136,125,788-136,150,630
(GRCh37/hg19)

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.

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

Gene 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

Phenotypes From GWAS Catalog for ABO Gene

Gene Ontology (GO) - Molecular Function for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IMP 12198488
GO:0003823 antigen binding IMP 12198488
GO:0004380 glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA --
GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone 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 and Subcellular locations from the Human Protein Atlas (HPA) 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
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

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

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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 98.49 (n)
rat
(Rattus norvegicus)
Mammalia Abo2 33
  • 78.35 (n)
cow
(Bos Taurus)
Mammalia ABO 33
  • 77.51 (n)
dog
(Canis familiaris)
Mammalia ABO 33
  • 76.42 (n)
mouse
(Mus musculus)
Mammalia Abo 33 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 Variation AA Info Type
rs1053878 association, ABO blood group system 133,256,264(-) G/A coding_sequence_variant, missense_variant
rs55722397 affects, ABO blood group system 133,256,031(-) G/C coding_sequence_variant, missense_variant
rs56392308 affects, ABO blood group system 133,255,670(-) GGG/GG coding_sequence_variant, frameshift
rs8176747 association, ABO blood group system 133,255,928(-) C/A/G coding_sequence_variant, missense_variant
rs1000231760 -- 133,262,387(-) G/A intron_variant

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

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

Additional Variant Information 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

Additional Disease Information for ABO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 ML (The Journal of biological chemistry 2007) 3 4 22 58
  2. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. (PMID: 12529355) Marcus SL … Palcic MM (The Journal of biological chemistry 2003) 3 4 22 58
  3. The structural basis for specificity in human ABO(H) blood group biosynthesis. (PMID: 12198488) Patenaude SI … Evans SV (Nature structural biology 2002) 3 4 22 58
  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 LC … Lin M (Biochemical and biophysical research communications 1999) 3 4 22 58
  5. Molecular genetic basis of the histo-blood group ABO system. (PMID: 2333095) Yamamoto F … Hakomori S (Nature 1990) 3 4 22 58

Products for ABO Gene

Sources for ABO Gene

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