1. Gene
  2. MGAT4A - alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A Gene

MGAT4A - alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A Gene

中文名称:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A

种属: Homo sapiens

同用名: GNT-IV; GnT-4a; GNT-IVA

基因 ID: 11320 | 基因类型: protein coding

关于 MGAT4A

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,619,106-98,731,132 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and 3 paralogues. Broad expression in small intestine (RPKM 18.3), colon (RPKM 13.7) 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 B 外,还催化 N-乙酰葡糖胺 (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 B, 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]

MGAT4A 基因产物(2)

mRNA Protein Name
NM_001160154.2 NP_001153626.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 2
NM_012214.3 NP_036346.1 alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1
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
17006639 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

MGAT4A 蛋白结构

Glyco_transf_54

Glyco_transf_54: N-Acetylglucosaminyltransferase-IV (GnT-IV) conserved region (81 - 380)

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  • 500
  • 535 a.a.
蛋白主名 其他名称

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

N-acetylglucosaminyltransferase IVa

关联疾病

疾病名称 别名
Choriocarcinoma

Chorioepithelioma

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

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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 MGAT4A VGNC VGNC:74714
Canis familiaris MGAT4A VGNC VGNC:54527
Mus musculus MGAT4A MGD MGI:2662992
Bos taurus MGAT4A VGNC VGNC:96699
Rattus norvegicus MGAT4A RGD RGD:1305650
Felis catus MGAT4A VGNC VGNC:68247