2. Gene
  3. B4GAT1 - beta-1,4-glucuronyltransferase 1 Gene

B4GAT1 - beta-1,4-glucuronyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：β-1,4-葡萄糖醛酸转移酶 1

种属: Homo sapiens

同用名: iGAT; iGNT; B3GNT1; B3GNT6; B3GN-T1; MDDGA13; BETA3GNTI

基因 ID: 11041 | 基因类型: protein coding

关于 B4GAT1

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,345,374-66,347,629 (from NCBI)

This gene has 1 transcript (splice variant), 196 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in brain (RPKM 72.1), adrenal (RPKM 23.3) and 22 other tissues.

功能概要

该基因编码 beta-1,3-N-乙酰氨基葡萄糖转移酶家族的成员。这种酶是一种 II 型跨膜蛋白。它对于合成聚-N-乙酰乳糖胺是必不可少的，聚-N-乙酰乳糖胺是血型 i 抗原的决定因素。[RefSeq 提供，2008 年 7 月]

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This Enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

B4GAT1 基因产物(1)

mRNA Protein Name
NM_006876.3 NP_006867.1 beta-1,4-glucuronyltransferase 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
25279697 GOA
enables glucuronosyltransferase activity IDA
IDA: 通过直接分析推断
25279697 GOA
enables glucuronosyltransferase activity IMP
IMP: 通过突变表型推断
23359570 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19587235 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
NOT involved in poly-N-acetyllactosamine biosynthetic process IDA
IDA: 通过直接分析推断
25279697 GOA
involved in protein O-linked mannosylation IDA
IDA: 通过直接分析推断
25279697 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
25279699 GOA
located in Golgi apparatus IMP
IMP: 通过突变表型推断
23359570 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

B4GAT1 蛋白结构

Glyco_transf_49

Glyco_transf_49: Glycosyl-transferase for dystroglycan (94 - 409)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
蛋白主名 其他名称

beta-1,4-glucuronyltransferase 1

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

B4GAT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
B4GAT1 O43505 LARGE1 Homo sapiens O95461-1
Anti Tag CoIP
19587235
种属内
B4GAT1 O43505 LARGE2 Homo sapiens Q8N3Y3
Anti Tag CoIP
28514442
种属内
B4GAT1 O43505 LARGE2 Homo sapiens Q8N3Y3
Anti Tag CoIP
19587235
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 B4GAT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7627 B3GNT1 Protein, Human (HEK293, His) O43505 (D43-C415) ≥95%

关联疾病

疾病名称 别名
Muscular Dystrophy-Dystroglycanopathy , Type A, 13

MDDGA13

Muscular Dystrophy-Dystroglycanopathy , Type A13

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, B3gnt1-Related

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A13

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3gnt1-Related

Dystrophy, Muscular, Dystroglycanopathy , Type A13
Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A
Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome

MDDGA1

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Muscular Dystrophy-Dystroglycanopathy , Type A1

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Hydrocephalus, Agyria, And Retinal Dysplasia

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1

Cerebroocular Dysgenesis

Cod

Hard +/- E Syndrome

Hydrocephalus-Agyria-Retinal Dysplasia

Meb

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Disease Pomt1-Related

Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a

Walker-Warburg Syndrome

Walker-Warburg Syndrome Pomt1-Related

Warburg Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy , Type A1

Walker-Warburg Congenital Muscular Dystrophy

Muscle Eye Brain Disease
Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone
Muscle Eye Brain Disease

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Syndrome

Meb

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

Meb Syndrome

Santavuori Congenital Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy

Congenital Muscular Dystrophy Due To Dystroglycanopathy

Mddg

Dystrophy, Muscular, Dystroglycanopathy
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70179 β-1,4-Glucuronyltransferase 1 / 否
HY-RS01326 B4GAT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus B4GAT1 VGNC VGNC:60066
Mus musculus B4GAT1 MGD MGI:1919680
Rattus norvegicus B4GAT1 RGD RGD:1309541
Bos taurus B4GAT1 VGNC VGNC:26395
Macaca mulatta B4GAT1 VGNC VGNC:70078
Canis familiaris B4GAT1 VGNC VGNC:38355
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