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
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=184.108.40.206; AltName: Full=Glycoprotein-fucosylgalactoside alpha-galactosyltransferase; EC=220.127.116.11; 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
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.
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.
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 .
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.
ModBase Predicted Comparative 3D Structure on P16442
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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.