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

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

Homo sapiens

Also known as GTB; NAGAT; A3GALNT; A3GALT1

Gene ID: 28 | Gene type: protein coding

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

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) ≥95%

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

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