InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABO

Summary

InnateDB Gene

IDBG-90910.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABO

Gene Name

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

Synonyms

A3GALNT; A3GALT1; GTB; NAGAT

Species

Homo sapiens

Ensembl Gene

ENSG00000175164

Encoded Proteins

IDBP-807862

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

IDBP-807868

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:133250401-133275214

Strand

Reverse strand

Band

q34.2

Transcripts

ENST00000453660
ENST00000538324	ENSP00000483018
ENST00000611156	ENSP00000483265

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004380	glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
GO:0004381	fucosylgalactoside 3-alpha-galactosyltransferase activity
GO:0016758	transferase activity, transferring hexosyl groups
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006486	protein glycosylation

Cellular Component

GO:0005576	extracellular region
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032580	Golgi cisterna membrane

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

KEGG

hsa00601

Glycosphingolipid biosynthesis pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_020469

HUGO

OMIM

CCDS

HPRD

IMGT

EMBL

GenPept

RNA Seq Atlas