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

中文名称：ABO、α 1-3-N-乙酰半乳糖氨基转移酶和 α 1-3-半乳糖基转移酶

种属: Homo sapiens

同用名: GTB; NAGAT; A3GALNT; A3GALT1

基因 ID: 28 | 基因类型: protein coding

关于 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.

功能概要

该基因编码与第一个发现的血型系统 ABO 相关的蛋白质。 ABO 基因 (染色体 9q34.2) 的变异是 ABO 血型的基础，因此等位基因的存在决定了个体的血型。 “O”血型是由蛋白质 N 末端附近的鸟嘌呤 258 缺失引起的，这会导致几乎完全不同的蛋白质发生移码和翻译。具有 A、B 和 AB 等位基因的个体表现出将 H 抗原转化为 A 或 B 抗原的糖基转移酶活性。已发现该基因的其他次要等位基因。[RefSeq 提供，2022 年 4 月]

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 基因产物(1)

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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables antigen binding	IMP IMP: 通过突变表型推断	12198488	GOA
enables manganese ion binding	IMP IMP: 通过突变表型推断	12198488	GOA
enables nucleotide binding	IMP IMP: 通过突变表型推断	12198488	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ABO 蛋白结构

Glyco_transf_6

0
100
200
300
354 a.a.

蛋白主名

其他名称

histo-blood group ABO system transferase

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

重组 ABO 蛋白

目录号	产品名	蛋白编号	纯度
HY-P73926	Histo-blood group ABO/ABO Protein, Human (HEK293, Fc)	ADX99264 (R63-P354)	≥95%

ABO 抗体

目录号	产品名	应用	反应物种
HY-P82996	BGAT Antibody (YA2741)	WB, IP	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	Phase
HY-115635	ABO hydrochloride	Modulator	98.7%	Phase 4

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-E70051	alpha-1,3-N-Acetylgalactosaminyltransferase (Pm1138)		/	否
HY-RS00109	ABO Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 ABO

功能概要

ABO 基因产物(1)

ABO 蛋白结构

重组 ABO 蛋白

ABO 抗体

关联疾病

直系同源

热门区域

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

关于 ABO

功能概要

ABO 基因产物(1)

ABO 蛋白结构

重组 ABO 蛋白

ABO 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z