1. Gene
  2. MGAT4B - alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B Gene

MGAT4B - alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B Gene

中文名称:α-1,3-甘露糖糖蛋白 4-β-N-乙酰氨基葡萄糖转移酶 B

种属: Homo sapiens

同用名: GNT-IV; GNT-IVB

基因 ID: 11282 | 基因类型: protein coding

关于 MGAT4B

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,797,597-179,806,866 (from NCBI)

This gene has 23 transcripts (splice variants), 1 gene allele, 212 orthologues and 3 paralogues. Ubiquitous expression in small intestine (RPKM 64.0), duodenum (RPKM 63.6) and 24 other tissues.

功能概要

该基因编码一种关键的糖基转移酶,该酶调节高尔基体中三触角和多触角分支结构的形成。编码的蛋白质,除了相关的同工酶 A 外,还催化 N-乙酰氨基葡萄糖 (GlcNAc) 从 UDP-GlcNAc 以 beta-1,4 连接转移到 Man-alpha-1,3-Man-beta-1, R-Man-alpha-1,6 (GlcNAc-beta-1,2-Man-alpha-1,3) Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta 的 4-GlcNAc 臂-1-氨基酸编码的蛋白质可能在调节血清糖蛋白的可用性、肿瘤发生和分化中发挥作用。[RefSeq 提供,2008 年 7 月]

This gene encodes a key Glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]

MGAT4B 基因产物(2)

mRNA Protein Name
NM_014275.5 NP_055090.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B isoform 1 precursor
NM_054013.3 NP_463459.1 alpha-1,3-mannosyl-glycoprotein 4-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-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
10372966 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein glycosylation IDA
IDA: 通过直接分析推断
17006639 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

MGAT4B 蛋白结构

Glyco_transf_54

Glyco_transf_54: N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region (107 - 387)

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  • 548 a.a.
蛋白主名 其他名称

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B

N-acetylglucosaminyltransferase IVb

MGAT4B 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
MGAT4B Q9UQ53 APPBP2 Homo sapiens Q92624
Y2H Prey Pooling
32296183
种属内
MGAT4B Q9UQ53 APPBP2 Homo sapiens Q92624
Y2H Array
32296183
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
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

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
Rattus norvegicus MGAT4B RGD RGD:1562836
Mus musculus MGAT4B MGD MGI:2143974
Bos taurus MGAT4B VGNC VGNC:54624
Canis familiaris MGAT4B VGNC VGNC:51745
Felis catus MGAT4B VGNC VGNC:68248
Macaca mulatta MGAT4B VGNC VGNC:74715