1. Gene
  2. MGAT5B - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Gene

MGAT5B - alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Gene

中文名称:α-1,6-甘露糖基糖蛋白 6-β-N-乙酰氨基葡萄糖转移酶 B

种属: Homo sapiens

同用名: GnT-IX; GnT-VB

基因 ID: 146664 | 基因类型: protein coding

关于 MGAT5B

Cytogenetic location: 17q25.2 Genomic coordinates (GRCh38): 17:76,868,404-76,950,393 (from NCBI)

This gene has 9 transcripts (splice variants), 272 orthologues and 2 paralogues. Biased expression in brain (RPKM 5.4) and testis (RPKM 0.7).

功能概要

MGAT5B 基因编码 β-1,6-N-乙酰氨基葡萄糖转移酶 (EC 2.4.1.155) ,它在复杂细胞表面 N-聚糖的合成中发挥作用 (Kaneko 等人,2003 [PubMed 14623122]) 。[OMIM 提供, 2008 年 11 月]

The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

MGAT5B 基因产物(3)

mRNA Protein Name
NM_001199172.2 NP_001186101.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 3
NM_144677.3 NP_653278.2 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 1
NM_198955.1 NP_945193.1 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B isoform 2
基因本体论
  • 分子功能
  • 生物过程
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
19846580 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
19846580 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23088713 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein O-linked glycosylation via serine IDA
IDA: 通过直接分析推断
19846580 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

MGAT5B 蛋白结构

Glyco_transf_18

Glyco_transf_18: Glycosyltransferase family 18 (184 - 777)

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

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

N-acetylglucosaminyl-transferase Vb

MGAT5B 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
种属间
MGAT5B Q3V5L5 Hoxa1 Mus musculus P09022 23088713
种属间
MGAT5B Q3V5L5 Hoxa1 Mus musculus P09022
Y2H
23088713
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
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 MGAT5B VGNC VGNC:74566
Bos taurus MGAT5B VGNC VGNC:55847
Mus musculus MGAT5B MGD MGI:3606200
Rattus norvegicus MGAT5B RGD RGD:1305188
Canis familiaris MGAT5B VGNC VGNC:55787
Felis catus MGAT5B VGNC VGNC:63488