ABO - ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Gene

Also Known as GTB; NAGAT; A3GALNT; A3GALT1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 28

About ABO

Cytogenetic location: 9q34.2 Genomic coordinates (GRCh38): 9:133,250,401-133,275,201 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 125 orthologues, 3 paralogues and is associated with 1 phenotype. Broad expression in colon (RPKM 14.5), small intestine (RPKM 11.5) and 15 other tissues.

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. [provided by RefSeq, Apr 2022]

ABO Products (1)

mRNA Protein Name
NM_020469.3 NP_065202.2 histo-blood group ABO system transferase

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables antigen binding IMP
IMP: Inferred from mutant phenotype
12198488 GOA
enables manganese ion binding IMP
IMP: Inferred from mutant phenotype
12198488 GOA
enables nucleotide binding IMP
IMP: Inferred from mutant phenotype
12198488 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABO Protein Structure

Glyco_transf_6

Glyco_transf_6: Glycosyltransferase family 6 (18 - 353)

  • 0
  • 100
  • 200
  • 300
  • 354 a.a.
Protein Preferred Names Protein Names

histo-blood group ABO system transferase

  • ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase

Recombinant ABO Proteins

Cat. No. Product Name Accession Purity
HY-P73926 Histo-blood group ABO/ABO Protein, Human (HEK293, Fc) ADX99264 (R63-P354) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Cardiomyopathy, Familial Hypertrophic, 3

  • Hypertrophic Cardiomyopathy 3

  • CMH3

  • Cardiomyopathy, Hypertrophic, 3

  • Cardiomyopathy Familial Hypertrophic 3

  • Cardiomyopathy, Familial Hypertrophic 3

  • Cardiomyopathy, Hypertrophic, Familial, Type 3
Febrile Seizures, Familial, 6

  • FEB6

  • Familial Febrile Seizures 6

  • Convulsions, Familial Febrile, 6

  • Familial Febrile Convulsions 6

  • Febrile Convulsions, Familial, 6
Epidermolysis Bullosa Simplex Localized Type

  • Epidermolysis Bullosa Simplex, Weber-Cockayne Type

  • Weber-Cockayne Syndrome

  • Ebs-Loc

  • Epidermolysis Bullosa Simplex Of Palms And Soles

  • Epidermolysis Bullosa Simplex Weber-Cockayne Type

  • Epidermolysis Bullosa Simplex, Localized

  • Epidermolysis Bullosa Of Hands And Feet

  • Weber-Cockayne Type Epidermolysis Bullosa Simplex

  • Localized Epidermolysis Bullosa Simplex

  • Localized Ebs
Postinflammatory Pulmonary Fibrosis

  • Post-Inflammatory Pulmonary Fibrosis
Mucositis

  • Inflammatory Disease Of Mucous Membrane

  • Gastrointestinal Mucositis
Blood Group Incompatibility
Malaria

  • Malaria, Susceptibility To

  • Malaria, Resistance To

  • Malaria, Cerebral

  • Cerebral Malaria

  • Malaria, Severe, Susceptibility To

  • Malaria, Severe, Resistance To

  • Malaria, Cerebral, Susceptibility To

  • Induced Malaria

  • Malaria, Vivax, Protection Against

  • Malaria, Severe

  • Malaria, Cerebral, Reduced Risk Of

  • Malaria, Protection Against

  • Resistance To Malaria Due To G6pd Deficiency

  • Malaria Due To G6pd Deficiency

  • Malarial Encephalitis

  • CM

  • Malaria Cerebral

  • Susceptibility To Malaria

  • Acute Pernicious Fever

  • Aestivo-Autumnal Fever

  • Aestivo Autumnal Malaria

  • Chagres Fever

  • Continued Malaria Fever

  • Estivo-Autumnal Fever

  • Estivo-Autumnal Malaria

  • Estivo-Autumnal Malarial Fever

  • Falciparum Fever

  • Malignant Tertian Fever

  • Malignant Tertian Malaria

  • Pernicious Intermittent Fever

  • Pernicious Malaria

  • Quotidian Malaria

  • Subtertian Fever

  • Subtertian Malaria Fever

  • Subtertian Malignant Tertian Malaria

  • Tropical Malaria

  • Algid Malaria

  • Bilious Haemoglobinuric Fever

  • Black Water Fever

  • Blackwater Fever

  • Malarial Blackwater Fever

  • Severe Malarial Falciparum

  • West African Fever

  • Malarial Haematinuria

  • Haemoglobinuric Fever

  • Haemoglobinuric Malaria

  • Severe Plasmodium Falciparum Malaria

  • Malarial Haemoglobinuria

  • Malarial Haematuria

  • Falciparum Malaria [Malignant Tertian]

  • Malaria Tropica

  • Malarial Shock

  • Chagres Virus Disease

  • Malignant Malaria

  • Mtm - [Malignant Tertian Malaria]

  • Tm -[Malignant Tertian Malaria]

  • Panama Fever

  • St - [Subtertian Malaria]

  • Malarial Quotidian

  • Benign Tertian Malaria

  • Tertian Ague

  • Vivax Fever

  • Plasmodium Vivax Malaria Nos

  • Btm - [Benign Tertian Malaria]

  • Bt - [Benign Tertian Malaria]

  • Vivax Malaria

  • Benign Tertian Vivax Malaria

  • Tertian Malaria

  • Quartan Malaria

  • Quartan Ague

  • Quartan Fever

  • Plasmodium Malariae Malaria Nos

  • Quartan Malarial

  • Malaria By Plasmodium Malariae

  • Malariae Malaria

  • Ovale Tertian Malaria

  • Plasmodium Ovale Fever

  • Malaria Fever By Plasmodium Ovale

  • Ovale Malaria

  • Malaria By Plasmodium Ovale

  • Malarial Ovale

  • Marsh Fever

  • Remittent Congestive Fever

  • Coastal Fever

  • Remittent Gastric Fever

  • Miasmatic Fever

  • Congestive Remittent Fever

  • Intermittent Fever

  • Jungle Fever

  • Paludism

  • Cameroon Fever

  • Ague

  • Corsican Fever

  • Intermittent Bilious Fever

  • Disease Due To Plasmodiidae

  • Malarial Fever

  • Plasmodiosis

  • Remittent Fever

  • Roman Fever

  • Malaria Fever Nos

  • Malaria Nos

  • Paludal Fever

  • Clinically Diagnosed Malaria

  • Clinically Diagnosed Malaria Without Parasitological Confirmation

  • Congestive Fever

  • Malarial Cachexia

  • Marsh Cachexia

  • Paludal Cachexia

  • Recurrent Malaria

  • Remittent Malaria
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Inhibitory Antibodies (1)
Cat. No. Product Name Effect
Purity Phase
HY-P991921 TNX-1500 Inhibitor / Phase 2

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-115635 ABO hydrochloride Modulator 98.70% Unkown
HY-E70051 alpha-1,3-N-Acetylgalactosaminyltransferase (Pm1138) / Unkown
HY-RS00109 ABO Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17181 Abo Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23632 Abo Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-W145682 Blood group H disaccharide / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ABO VGNC VGNC:25510
Mus musculus ABO MGD MGI:2135738
Rattus norvegicus ABO RGD RGD:2307241
Macaca mulatta ABO VGNC VGNC:69588
Others ABO NCBI