ABO

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. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]

Description

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase

Tissue specificity

Tissue enhanced (intestine)

Predicted location

Intracellular, Membrane, Secreted to blood

Protein family

Metabolic proteins
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Chromosome

9 (133233278 - 133276024)

Ensembl ID

ENSG00000175164  (ver. 103.38)

Orthologs

Mouse Abo: ENSMUSG00000015787

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure