ABO
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | MIM:110300 | Ensembl:ENSG00000175164 | HGNC:HGNC:79 | PA24415 | 9q34.2 |
GO terms in ABO
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005576 | extracellular region |
| CC | IBA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0031982 | vesicle |
| CC | IEA | GO:0032580 | Golgi cisterna membrane |
| BP | IEA | GO:0005975 | carbohydrate metabolic process |
| BP | IEA | GO:0006486 | protein glycosylation |
| BP | IBA | GO:0030259 | lipid glycosylation |
| MF | IMP | GO:0000166 | nucleotide binding |
| MF | IMP | GO:0003823 | antigen binding |
| MF | IBA | GO:0004380 | glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity |
| MF | IEA | GO:0004380 | glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity |
| MF | IEA | GO:0004381 | fucosylgalactoside 3-alpha-galactosyltransferase activity |
| MF | IBA | GO:0016757 | transferase activity, transferring glycosyl groups |
| MF | IMP | GO:0030145 | manganese ion binding |
Gene expression in normal tissue: ABO
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ABO
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP1424 | Globo Sphingolipid Metabolism |
| wikipathways | WP2849 | Hematopoietic Stem Cell Differentiation |
| kegg | hsa00601 | Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ABO
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.