Also known as A3GALNT, A3GALT1, GTB, NAGAT, ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase), ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
protein-coding gene in the species Homo sapiens
Gene data
ABO- Name
- ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
- Type
- protein-coding
- Aliases
- A3GALNT, A3GALT1, GTA, GTB, NAGAT
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].
via MyGene.info
Gene · Ensembl
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
- Symbol
- ABO
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:133,233,278-133,276,024
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ABO PDB 1lz0.png
Show 6 more facts
- HomoloGene ID
- 69306
- Commons category
- ABO (gene)
- genomic start
- 136125788
- genomic end
- 136150617
- exact match
- identifiers.org/ncbigene/28
- cytogenetic location
- 9q34.2
via Wikidata · CC0