Summary: 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].

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferaseMIM:110300Ensembl:ENSG00000175164HGNC:HGNC:79PA244159q34.2

GO terms in ABO

Term TypeEvidence TypeGO Term IDGO Des.
CCIEAGO:0005576extracellular region
CCIBAGO:0005794Golgi apparatus
CCIEAGO:0016021integral component of membrane
CCIEAGO:0032580Golgi cisterna membrane
BPIEAGO:0005975carbohydrate metabolic process
BPIEAGO:0006486protein glycosylation
BPIBAGO:0030259lipid glycosylation
MFIMPGO:0000166nucleotide binding
MFIMPGO:0003823antigen binding
MFIBAGO:0004380glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
MFIEAGO:0004380glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
MFIEAGO:0004381fucosylgalactoside 3-alpha-galactosyltransferase activity
MFIBAGO:0016757transferase activity, transferring glycosyl groups
MFIMPGO:0030145manganese ion binding

Gene expression in normal tissue: ABO

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ABO

DatabasePathway IDPathway Des.
wikipathwaysWP1424Globo Sphingolipid Metabolism
wikipathwaysWP2849Hematopoietic Stem Cell Differentiation
kegghsa00601Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ABO