Human Gene ABO (uc004cda.1) Description and Page Index
  Description: Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.
RefSeq Summary (NM_020469): This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. 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, Sep 2019]. Sequence Note: This RefSeq record represents the ABO*A1.01 allele.
Transcript (Including UTRs)
   Position: hg19 chr9:136,130,563-136,150,630 Size: 20,068 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr9:136,131,053-136,150,605 Size: 19,553 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:136,130,563-136,150,630)mRNA (may differ from genome)Protein (354 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BGAT_HUMAN
DESCRIPTION: RecName: Full=Histo-blood group ABO system transferase; AltName: Full=Fucosylglycoprotein 3-alpha-galactosyltransferase; AltName: Full=Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase; AltName: Full=Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase; EC=2.4.1.40; AltName: Full=Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; EC=2.4.1.37; AltName: Full=Histo-blood group A transferase; Short=A transferase; AltName: Full=Histo-blood group B transferase; Short=B transferase; AltName: Full=NAGAT; Contains: RecName: Full=Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase soluble form;
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.
CATALYTIC ACTIVITY: UDP-N-acetyl-D-galactosamine + glycoprotein- alpha-L-fucosyl-(1->2)-D-galactose = UDP + glycoprotein-N-acetyl- alpha-D-galactosaminyl-(1->3)-(alpha-L-fucosyl-(1->2))-D- galactose.
CATALYTIC ACTIVITY: 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.
COFACTOR: Binds 1 manganese ion per subunit.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: 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.
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.
PTM: The soluble form derives from the membrane form by proteolytic processing.
POLYMORPHISM: The sequence shown is that of the A transferase. The B form differs by a few residues substitutions. 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.
SIMILARITY: Belongs to the glycosyltransferase 6 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/abo/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Histo-blood group ABO system transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_450";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Histo-blood group ABO system transferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_502";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ABO
CDC HuGE Published Literature: ABO
Positive Disease Associations: Alkaline Phosphatase , Angiotensin-converting enzyme activity , Angiotensin-Converting Enzyme Inhibitors , asthma , atherosclerosis, coronary , Cardiovascular Diseases , Cholesterol, LDL , Coronary Artery Disease , Depression , Duodenal Ulcer , E-Selectin , Erythrocyte Count , Erythrocyte Indices , fibrin fragment D , gastritis, chronic atrophic , Graves Disease , Hematocrit , Intercellular Adhesion Molecule-1 , Interleukin-6 , Metabolism , myocardial infarct , P-Selectin , pancreatic cancer , Pancreatic Neoplasms , Phytosterols , plasma levels of liver enzymes , protein quantitative trait loci , serum soluble E-selectin , soluble ICAM-1 , soluble levels of adhesion molecules , thromboembolism, venous , Tumor Necrosis Factor-alpha , Venous thromboembolism , Venous Thrombosis
Related Studies:
  1. Alkaline Phosphatase
    Xin Yuan et al. American journal of human genetics 2008, Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes., American journal of human genetics. [PubMed 18940312]
  2. Alkaline Phosphatase
    John C Chambers et al. Nature genetics 2011, Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma., Nature genetics. [PubMed 22001757]
  3. Angiotensin-converting enzyme activity
    Chung ,et al. Pharmacogenomics 2010, A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor , The pharmacogenomics journal 2010 . [PubMed 20066004]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.16 RPKM in Small Intestine - Terminal Ileum
Total median expression: 73.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.7025-0.188 Picture PostScript Text
3' UTR -77.40490-0.158 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005076 - Glyco_trans_6

Pfam Domains:
PF03414 - Glycosyltransferase family 6

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1LZ0
- X-ray MuPIT

1LZ7
- X-ray MuPIT

1LZI
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1LZJ - X-ray MuPIT 1R7T - X-ray MuPIT 1R7U - X-ray MuPIT
1R7V - X-ray MuPIT 1R7X - X-ray MuPIT 1R7Y - X-ray MuPIT
1R80 - X-ray MuPIT 1R81 - X-ray MuPIT 1R82 - X-ray MuPIT
1WSZ - X-ray MuPIT 1WT0 - X-ray MuPIT 1WT1 - X-ray MuPIT
1WT2 - X-ray MuPIT 1WT3 - X-ray MuPIT 1XZ6 - X-ray MuPIT
1ZHJ - X-ray MuPIT 1ZI1 - X-ray MuPIT 1ZI3 - X-ray MuPIT
1ZI4 - X-ray MuPIT 1ZI5 - X-ray MuPIT 1ZIZ - X-ray MuPIT
1ZJ0 - X-ray MuPIT 1ZJ1 - X-ray MuPIT 1ZJ2 - X-ray MuPIT
1ZJ3 - X-ray MuPIT 1ZJO - X-ray MuPIT 1ZJP - X-ray MuPIT
2A8U - X-ray MuPIT 2A8W - X-ray MuPIT 2I7B - X-ray MuPIT
2O1F - X-ray MuPIT 2O1G - X-ray MuPIT 2O1H - X-ray MuPIT
2PGV - X-ray MuPIT 2PGY - X-ray MuPIT 2RIT - X-ray MuPIT
2RIX - X-ray MuPIT 2RIY - X-ray MuPIT 2RIZ - X-ray MuPIT
2RJ0 - X-ray MuPIT 2RJ1 - X-ray MuPIT 2RJ4 - X-ray MuPIT
2RJ5 - X-ray MuPIT 2RJ6 - X-ray MuPIT 2RJ7 - X-ray MuPIT
2RJ8 - X-ray MuPIT 2RJ9 - X-ray MuPIT 2Y7A - X-ray MuPIT
3I0C - X-ray MuPIT 3I0D - X-ray MuPIT 3I0E - X-ray MuPIT
3I0F - X-ray MuPIT 3I0G - X-ray MuPIT 3I0H - X-ray MuPIT
3I0I - X-ray MuPIT 3I0J - X-ray MuPIT 3I0K - X-ray MuPIT
3I0L - X-ray MuPIT 3IOH - X-ray MuPIT 3IOI - X-ray MuPIT
3IOJ - X-ray MuPIT 3SX3 - X-ray MuPIT 3SX5 - X-ray MuPIT
3SX7 - X-ray MuPIT 3SX8 - X-ray MuPIT 3SXA - X-ray MuPIT
3SXB - X-ray MuPIT 3SXC - X-ray MuPIT 3SXD - X-ray MuPIT
3SXE - X-ray MuPIT 3SXG - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P16442
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003823 antigen binding
GO:0004380 glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups
GO:0030145 manganese ion binding
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0009247 glycolipid biosynthetic process
GO:0030259 lipid glycosylation

Cellular Component:
GO:0005576 extracellular region
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031982 vesicle
GO:0032580 Golgi cisterna membrane


-  Descriptions from all associated GenBank mRNAs
  AK124587 - Homo sapiens cDNA FLJ42596 fis, clone BRACE3010283.
U15197 - Human histo-blood group ABO protein mRNA, partial 3' UTR sequence.
JX519569 - Homo sapiens isolate ABO-815A ABO blood group protein (ABO) mRNA, complete cds.
JX519570 - Homo sapiens isolate ABO-248G ABO blood group protein (ABO) mRNA, complete cds.
AK302203 - Homo sapiens cDNA FLJ57663 complete cds, highly similar to Histo-blood group ABO system transferase.
S44054 - Homo sapiens histo-blood group A2 transferase (ABO) mRNA, partial cds.
JX398332 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
JX398333 - Homo sapiens ABO A3 transferase variant (ABO) mRNA, complete cds.
AY579471 - Homo sapiens A transferase (ABO) mRNA, ABO-cis-AB allele, partial cds.
AY727862 - Homo sapiens ABO transferase (ABO) mRNA, ABO-cis weak AB allele, partial cds.
AF134412 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-*A101 allele, complete cds.
AF134413 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-*A102 allele, complete cds.
AF134414 - Homo sapiens B-specific alpha 1->3 galactosyltransferase (ABO) mRNA, ABO-*B101 allele, complete cds.
AF134415 - Homo sapiens O-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) pseudogene, ABO-*O01 allele, mRNA sequence.
AF134416 - Homo sapiens O-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) pseudogene, ABO-*O02 allele, mRNA sequence.
BC069595 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone MGC:97185 IMAGE:7262430), complete cds.
BC069605 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone IMAGE:7262442), containing frame-shift errors.
BC111575 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone MGC:133374 IMAGE:40069575), complete cds.
DQ139865 - Homo sapiens B(A) alpha-1,3-galactosyltransferase mRNA, complete cds.
FR691751 - Homo sapiens mRNA for ABO glycosyltransferase (ABO gene), weak A (C502G) allele.
FR691752 - Homo sapiens mRNA for ABO glycosyltransferase (ABO gene), weak A (V86E) allele.
J05175 - Human histo-blood group A transferase (UDP-GalNAc) mRNA, complete cds.
JN791441 - Homo sapiens B-specific 1-3-galactosyltransferase variant 1 (ABO) mRNA, complete cds.
JX398330 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
JX398331 - Homo sapiens ABO weak transfer variant (ABO) mRNA, complete cds.
KT282967 - Homo sapiens A1-specific alpha 1-3-N-acetylgalactosaminyltransferase (ABO) mRNA, complete cds.
KJ896361 - Synthetic construct Homo sapiens clone ccsbBroadEn_05755 ABO gene, encodes complete protein.
BC069814 - Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), mRNA (cDNA clone IMAGE:7262418), partial cds.
CU686922 - Synthetic construct Homo sapiens gateway clone IMAGE:100022646 5' read ABO mRNA.
LT596166 - Homo sapiens partial mRNA for Transferase (ABO gene), isolate 29-2016, allele A101 IVS 6+3 A>T.
MK302441 - Homo sapiens B-specific alpha 1->3 galactosyltransferase (ABO) mRNA, ABO*01 allele, complete cds.
MK144787 - Homo sapiens A1-specific alpha 1->3 N-acetylgalactosaminyltransferase (ABO) mRNA, ABO-A102 allele, complete cds.
MK568546 - Homo sapiens clone 19 ABO antigen (ABO) mRNA, ABO-B allele, complete cds.
MK631949 - Homo sapiens alpha-1,3-N-acetylgalactosaminyltransferase (ABO) mRNA, ABO*A1.01 allele, partial cds.
MK640210 - Homo sapiens B-specific alpha 1-3-galactosyltransferase (ABO) mRNA, ABO*B.01 allele, complete cds.
MK654726 - Homo sapiens B(A)-specific glycosyltransferase (ABO) mRNA, complete cds.
MK288020 - Homo sapiens glycosyltransferase B (ABO) mRNA, ABO-B variant(c.350G>T) allele, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00601 - Glycosphingolipid biosynthesis - lacto and neolacto series
hsa01100 - Metabolic pathways

-  Other Names for This Gene
  Alternate Gene Symbols: B0JDB9, BGAT_HUMAN, NM_020469, NP_065202, O14758, P16442, Q14490, Q53I57, Q6ISD4, Q6KFZ2, Q70V27, Q99484, Q99485, Q9NY01, Q9UQ68, Q9UQ69
UCSC ID: uc004cda.1
RefSeq Accession: NM_020469
Protein: P16442 (aka BGAT_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020469.2
exon count: 7CDS single in 3' UTR: no RNA size: 1580
ORF size: 1064CDS single in intron: no Alignment % ID: 99.75
txCdsPredict score: 1062.00frame shift in genome: yes % Coverage: 99.81
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.