1. Gene
  2. MGAT1 - alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Gene

MGAT1 - alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Gene

中文名称:α-1,3-甘露糖糖蛋白 2-β-N-乙酰氨基葡萄糖转移酶

种属: Homo sapiens

同用名: GnTI; MGAT; GLCT1; GLYT1; GNT-1; GNT-I; GLCNAC-TI

基因 ID: 4245 | 基因类型: protein coding

关于 MGAT1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:180,784,780-180,815,616 (from NCBI)

This gene has 25 transcripts (splice variants), 249 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 30.2), spleen (RPKM 29.9) and 25 other tissues.

功能概要

据信有超过 100 种不同的糖基转移酶参与蛋白质结合和脂质结合的寡糖的合成。 UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I 是一种内侧高尔基体酶,对于合成杂合和复杂的 N-聚糖至关重要。该蛋白由单个外显子编码,具有 II 型跨膜蛋白的典型特征。该蛋白质被认为是正常胚胎发生所必需的。已发现该基因的几种编码相同蛋白质的变体。[RefSeq 提供,2008 年 7 月]

There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi Enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MGAT1 基因产物(23)

mRNA Protein Name
NM_001114617.2 NP_001108089.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001114618.1 NP_001108090.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001114619.1 NP_001108091.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001114620.1 NP_001108092.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364377.2 NP_001351306.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364379.2 NP_001351308.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364380.2 NP_001351309.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364381.2 NP_001351310.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364382.2 NP_001351311.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364383.2 NP_001351312.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364384.2 NP_001351313.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364385.2 NP_001351314.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364386.2 NP_001351315.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364387.2 NP_001351316.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364388.2 NP_001351317.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364389.2 NP_001351318.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364390.2 NP_001351319.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364391.2 NP_001351320.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364392.2 NP_001351321.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364393.2 NP_001351322.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364394.2 NP_001351323.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_001364395.2 NP_001351324.1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
NM_002406.4 NP_002397.2 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
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-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
1702225 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
1702225 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30983867 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein N-linked glycosylation via asparagine IDA
IDA: 通过直接分析推断
1702225 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
20378551 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

MGAT1 蛋白结构

GNT-I

GNT-I: GNT-I family (12 - 444)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
蛋白主名 其他名称

alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I

MGAT1 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
Intra MGAT1 P26572 BRI3 Homo sapiens O95415
Y2H
30983867
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cataract 1, Multiple Types

Cataract 1 Multiple Types

CTRCT1

Cataract 1, Multiple Types, With Or Without Microcornea

Czp1

Cae1

Pulverulent Zonular Cataract

Cataract, Duffy-Linked

Cataract, Zonular Pulverulent, 1

Duffy Linked Cataract

Zonular Pulverulent Cataract 1

Cataract Duffy-Linked

Cataract-Microcornea Syndrome

Cataract Zonular Pulverulent 1

Ccmc

Cznp

Czp

Zonular Nuclear Pulverulent Cataract

Cataract, Zonular Pulverulent-1

Zonular Pulverulent Cataract

Cataract, Zonular Pulverulent 1

Cataract Microcornea Syndrome

Progressive Familial Heart Block, Type Ib

Progressive Familial Heart Block Type Ib

PFHB1B

Pfhbib

Progressive Familial Heart Block Type 1b

Heart Block Progressive Familial Type 1b

Progressive Familial Heart Block 1b

Cardiac Conduction Block

Right-Bundle Branch Block

Heart Block, Familial, Progressive, Type 1b

Heart Block

Right Bundle Branch Block

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

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

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

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 MGAT1 VGNC VGNC:84439
Bos taurus MGAT1 VGNC VGNC:54623
Canis familiaris MGAT1 VGNC VGNC:81792
Mus musculus MGAT1 MGD MGI:96973
Rattus norvegicus MGAT1 RGD RGD:620097
Others MGAT1 NCBI