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  2. B4GALT3 - beta-1,4-galactosyltransferase 3 Gene

B4GALT3 - beta-1,4-galactosyltransferase 3 Gene

中文名称:β-1,4-半乳糖基转移酶 3

种属: Homo sapiens

同用名: beta4Gal-T3

基因 ID: 8703 | 基因类型: protein coding

关于 B4GALT3

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,171,310-161,177,968 (from NCBI)

This gene has 13 transcripts (splice variants), 229 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) and 25 other tissues.

功能概要

该基因是七个 beta-1,4-半乳糖基转移酶 (beta4GalT) 基因之一。它们编码 II 型膜结合糖蛋白,这些糖蛋白似乎对供体底物 UDP-半乳糖具有专一性;所有都将半乳糖以 beta1,4 键转移到类似的受体糖:GlcNAc、Glc 和 Xyl。每个 beta4GalT 在不同糖缀合物和糖结构的生物合成中具有独特的功能。作为 II 型膜蛋白,它们具有一个 N 端疏水信号序列,该序列将蛋白质引导至高尔基体,然后保持未切割状态以充当跨膜锚。通过序列相似性,beta4GalTs 形成四组:beta4GalT1 和 beta4GalT2、beta4GalT3 和 beta4GalT4、beta4GalT5 和 beta4GalT6 以及 beta4GalT7。该基因编码的酶可能主要参与聚-N-乙酰乳糖胺链的第一个 N-乙酰乳糖胺单元的合成。已为该基因发现了编码相同蛋白质的多个可变剪接转录物变体。[RefSeq 提供,2010 年 12 月]

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an Enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

B4GALT3 基因产物(3)

mRNA Protein Name
NM_001199873.1 NP_001186802.1 beta-1,4-galactosyltransferase 3
NM_001199874.1 NP_001186803.1 beta-1,4-galactosyltransferase 3
NM_003779.4 NP_003770.1 beta-1,4-galactosyltransferase 3
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 galactosyltransferase activity IDA
IDA: 通过直接分析推断
9405390 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in galactosylceramide biosynthetic process IDA
IDA: 通过直接分析推断
9405390 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

B4GALT3 蛋白结构

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (77 - 212)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (215 - 292)

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

beta-1,4-galactosyltransferase 3

N-acetyllactosamine synthase

重组 B4GALT3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7629 B4GALT3 Protein, Human (HEK293, His) O60512 (R32-S392) ≥95%

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z

Charcot-Marie-Tooth Disease Axonal Type 2z

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation

Charcot-Marie-Tooth Disease 2z

Charcot-Marie-Tooth Disease, Type 2z

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
Felis catus B4GALT3 VGNC VGNC:68988
Rattus norvegicus B4GALT3 RGD RGD:1359221
Canis familiaris B4GALT3 VGNC VGNC:38351
Macaca mulatta B4GALT3 VGNC VGNC:70210
Mus musculus B4GALT3 MGD MGI:1928767
Bos taurus B4GALT3 VGNC VGNC:26390
Others B4GALT3 NCBI