ABO Gene (Alpha-1-3-N-Acetylgalactosaminyltransferase and Alpha-1-3-Galactosyltransferase)
ABO blood group system gene; encodes glycosyltransferases determining A and B blood group antigens
Gene Information Card
| Symbol | ABO |
|---|---|
| Full Name | Alpha-1-3-N-Acetylgalactosaminyltransferase and Alpha-1-3-Galactosyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 28 ncbi.nlm.nih.gov/gene/28 |
| Ensembl ID | ENSG00000175164 |
| UniProt ID | P16442 |
| OMIM ID | 110300 |
| HGNC ID | 79 |
| Aliases | A3GALNT, A3GALT1, GTB, NA-GA, A transferase, B transferase |
Description
The ABO gene encodes glycosyltransferases that catalyze the transfer of N-acetylgalactosamine or galactose to the H antigen, producing A or B blood group antigens, respectively. The gene determines ABO blood type through allelic variation (A, B, O).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| ABO blood group incompatibility | Maternal-fetal mismatch of ABO antigens leads to hemolytic disease of the newborn | ClinVar, OMIM |
| Hemolytic transfusion reaction | Transfusion of incompatible ABO blood type triggers immune-mediated hemolysis | ClinVar, OMIM |
| von Willebrand disease (modifier) | ABO blood group influences plasma von Willebrand factor levels | OMIM |
| Thrombosis risk | Non-O blood groups associated with increased risk of venous thromboembolism | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Small intestine | 12.5 | Medium |
| Stomach | 10.2 | Medium |
| Colon | 8.7 | Medium |
| Liver | 6.3 | Low |
| Lung | 4.1 | Low |
| Kidney | 3.8 | Low |
| Bone marrow | 2.5 | Low |
| Whole blood | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| HepG2 | 8.9 | Hepatocellular carcinoma |
| A549 | 5.2 | Lung carcinoma |
| MCF7 | 3.1 | Breast cancer |
| HEK 293 | 2.4 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.261delG | Deletion | Common in O allele | Frameshift, loss of enzyme activity |
| c.526C>G (p.Arg176Gly) | Missense | Common in A allele | Alters substrate specificity to N-acetylgalactosamine |
| c.703G>A (p.Gly235Ser) | Missense | Common in B allele | Alters substrate specificity to galactose |
| c.1061T>C (p.Leu354Pro) | Missense | Rare | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
c.261delG (O allele) results in truncated, non-functional protein.
Gain of Function (GOF)
Not reported for ABO.
Dominant Negative (DN)
Not reported for ABO.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008373 - alpha-1 | • 3-galactosyltransferase activity |
| • GO:0008375 - N-acetylgalactosaminyltransferase activity | • GO:0005794 - Golgi apparatus |
| • GO:0016757 - transferase activity | • transferring glycosyl groups |
| • GO:0000139 - Golgi membrane |
Pathways
• Blood group biosynthesis (ABO)
• Glycosphingolipid biosynthesis - lacto and neolacto series
• Metabolism of carbohydrates
Protein Summary
The ABO protein is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the final step in ABO blood group antigen synthesis by transferring specific sugar residues to the H antigen. The A allele encodes an alpha-1,3-N-acetylgalactosaminyltransferase, while the B allele encodes an alpha-1,3-galactosyltransferase. The O allele results from a frameshift deletion producing a truncated, inactive enzyme.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABO Knockout HEK293 Cell Line | EDJ-KQ3787 | Human | 28 | Details Get a Quote |
| ABO Knockout HeLa Cell Line | EDJ-KQ52533 | Human | 28 | Details Get a Quote |
| ABO Knockout A-549 Cell Line | EDJ-KQ61016 | Human | 28 | Details Get a Quote |
| ABO Knockout HCT 116 Cell Line | EDJ-KQ69490 | Human | 28 | Details Get a Quote |
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