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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70051	alpha-1,3-N-Acetylgalactosaminyltransferase (Pm1138)		/	Unkown
HY-RS00109	ABO Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-115635	ABO hydrochloride		/	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

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