ABO Gene Summary [Human]
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, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ABO |
| Official Name | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [Source:HGNC Symbol;Acc:HGNC:79] |
| Ensembl ID | ENSG00000175164 |
| Bio databases IDs | |
| Aliases | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
| Synonyms | A3GALNT, A3GALT1, Abo2, ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, transferase B, alpha 1-3-galactosyltransferase), ABO, α 1-3-N-acetylgalactosaminyltransferase and α 1-3-galactosyltransferase, GTB, NAGAT |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycoprotein-fucosylgalactoside alpha-galactosyltransferase
- nucleotide binding
- UDP-galactose beta-N-acetylglucosamine beta-1,3-galactosyltransferase
- galactosyltransferase
- antigen binding
- enzyme
- manganese ion binding
- glycosyltransferase family A
- glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- oligosaccharide
- ICAM1
regulated by
- Influenza A virus (A/Bangkok/RX73(H3N2))
- decitabine
- GnRH analog
- ZBTB16
disease
- peptic ulcer disease
- edema
- COVID-19
- heart disease
- metabolic syndrome X
- migraines
- hemorrhoid
- hypercholesterolemia
- malaria
- pulmonary embolism
phenotypes
- BLOOD GROUP ABO SYSTEM
role in cell
- apoptosis
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Golgi Apparatus
- Golgi membrane
- trans Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- carbohydrate metabolic process
- protein glycosylation
- lipid glycosylation
Cellular Component
Where in the cell the gene product is active
- Golgi cisterna membrane
- vesicle
- Golgi apparatus
- Golgi membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- nucleotide binding
- antigen binding
- glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
- fucosylgalactoside 3-alpha-galactosyltransferase activity
- manganese ion binding