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ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [ Homo sapiens (human) ]

Gene ID: 28, updated on 19-Sep-2020

Summary

Official Symbol
ABOprovided by HGNC
Official Full Name
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:79
See related
Ensembl:ENSG00000175164 MIM:110300
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GTB; NAGAT; A3GALNT; A3GALT1
Summary
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. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
Expression
Broad expression in colon (RPKM 14.5), small intestine (RPKM 11.5) and 15 other tissues See more
Orthologs

Genomic context

See ABO in Genome Data Viewer
Location:
9q34.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133250401..133275201, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136130563..136150630, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene lipocalin 1 pseudogene 1 Neighboring gene ABO +36.0 downstream enhancer Neighboring gene ABO 3' regulatory region Neighboring gene ABO +5.8 intron 1 enhancer Neighboring gene ABO promoter region Neighboring gene ABO upstream enhancer Neighboring gene lipocalin 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
GeneReviews: Not available
A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
GeneReviews: Not available
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
GeneReviews: Not available
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
GeneReviews: Not available
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
GeneReviews: Not available
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
GeneReviews: Not available
A genome-wide association study identifies two new risk loci for Graves' disease.
GeneReviews: Not available
A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.
GeneReviews: Not available
A genome-wide association study of circulating galectin-3.
GeneReviews: Not available
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
GeneReviews: Not available
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
GeneReviews: Not available
ABO blood group system
MedGen: C0000778 OMIM: 616093 GeneReviews: Not available
Compare labs
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study.
GeneReviews: Not available
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
GeneReviews: Not available
Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
GeneReviews: Not available
Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.
GeneReviews: Not available
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
GeneReviews: Not available
Genetics of venous thrombosis: insights from a new genome wide association study.
GeneReviews: Not available
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
GeneReviews: Not available
Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
GeneReviews: Not available
Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
GeneReviews: Not available
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
GeneReviews: Not available
Genome-wide association study indicates two novel resistance loci for severe malaria.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
GeneReviews: Not available
Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.
GeneReviews: Not available
Human metabolic individuality in biomedical and pharmaceutical research.
GeneReviews: Not available
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
GeneReviews: Not available
Imputation-based meta-analysis of severe malaria in three African populations.
GeneReviews: Not available
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
GeneReviews: Not available
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
GeneReviews: Not available
Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antigen binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
fucosylgalactoside 3-alpha-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
manganese ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
histo-blood group ABO system transferase
Names
ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
B(A) alpha-1,3-galactosyltransferase
histo-blood group A2 transferase
NP_065202.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_006669.2 RefSeqGene

    Range
    5014..29951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020469.3NP_065202.2  histo-blood group ABO system transferase

    See identical proteins and their annotated locations for NP_065202.2

    Status: REVIEWED

    Source sequence(s)
    AF134412, AL772161, AV761252, U15197
    UniProtKB/Swiss-Prot
    P16442
    UniProtKB/TrEMBL
    A0A089QDC1
    Related
    ENST00000453660.4
    Conserved Domains (1) summary
    pfam03414
    Location:64353
    Glyco_transf_6; Glycosyltransferase family 6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    133250401..133275201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p13 PATCHES

    Range
    76358..101295 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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