1. Gene
  2. MGAT5 - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase Gene

MGAT5 - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase Gene

中文名称:α-1,6-甘露糖糖蛋白 6-β-N-乙酰氨基葡萄糖转移酶

种属: Homo sapiens

同用名: GNT-V; GNT-VA; MGAT5A; glcNAc-T V

基因 ID: 4249 | 基因类型: protein coding

关于 MGAT5

Cytogenetic location: 2q21.2-q21.3 Genomic coordinates (GRCh38): 2:134,119,935-134,454,621 (from NCBI)

This gene has 5 transcripts (splice variants), 130 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 14.6), lymph node (RPKM 12.4) and 24 other tissues.

功能概要

该基因编码的蛋白质属于糖基转移酶家族。它催化将 β-1,6-N-乙酰葡糖胺添加到新合成糖蛋白上存在的双触角 N-连接寡糖的 α-连接甘露糖。它是参与调节糖蛋白寡糖生物合成的最重要的酶之一。细胞表面糖蛋白上寡糖的改变会导致细胞粘附或迁移行为发生显着变化。这种酶活性的增加与侵袭性恶性肿瘤的进展有关。[RefSeq 提供,2011 年 10 月]

The protein encoded by this gene belongs to the Glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important Enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this Enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

MGAT5 基因产物(2)

mRNA Protein Name
NM_001371457.1 NP_001358386.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A
NM_002410.5 NP_002401.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A
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
enables alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
10395745 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
10395745 GOA
enables protein phosphatase inhibitor activity IDA
IDA: 通过直接分析推断
24846175 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cell migration IDA
IDA: 通过直接分析推断
24846175 GOA
involved in positive regulation of receptor signaling pathway via STAT IDA
IDA: 通过直接分析推断
24846175 GOA
involved in protein N-linked glycosylation IDA
IDA: 通过直接分析推断
24846175 GOA
involved in protein N-linked glycosylation via asparagine IDA
IDA: 通过直接分析推断
10395745 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10395745 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

MGAT5 蛋白结构

DUF4525

DUF4525: Domain of unknown function (DUF4525) (4 - 139)

Glyco_transf_18

Glyco_transf_18: Glycosyltransferase family 18 (172 - 726)

  • 0
  • 200
  • 400
  • 600
  • 741 a.a.
蛋白主名 其他名称

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A

N-acetylglucosaminyl-transferase V

重组 MGAT5 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75927 MGAT5 Protein, Human (HEK293, His) Q09328 (L189-L741) ≥95%

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iia

CDG2A

Congenital Disorder Of Glycosylation Type Iia

Cdg Iia

Cdgiia

Congenital Disorder Of Glycosylation Type 2a

Alkuraya Syndrome

Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

Mgat2-Cdg

Cdg-Iia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

Cdgs2, Formerly

Cdgs2

Cdg Syndrome Type Iia

Carbohydrate Deficient Glycoprotein Syndrome Type Iia

N-Acetylglucosaminyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2a

Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

Cdgs Type Ii

Carbohydrate-Deficient Glycoprotein Syndrome Type 2

Glycosylation, Congenital Disorder Of, Type Iia

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

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

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MGAT5 VGNC VGNC:74716
Mus musculus MGAT5 MGD MGI:894701
Rattus norvegicus MGAT5 RGD RGD:620100
Bos taurus MGAT5 VGNC VGNC:54620
Felis catus MGAT5 VGNC VGNC:68249
Canis familiaris MGAT5 VGNC VGNC:54809
Others MGAT5 NCBI