1. Gene
  2. B4GALT5 - beta-1,4-galactosyltransferase 5 Gene

B4GALT5 - beta-1,4-galactosyltransferase 5 Gene

中文名称:β-1,4-半乳糖基转移酶 5

种属: Homo sapiens

同用名: gt-V; B4Gal-T5; beta4Gal-T5; beta4GalT-V; BETA4-GALT-IV

基因 ID: 9334 | 基因类型: protein coding

关于 B4GALT5

Cytogenetic location: 20q13.13 Genomic coordinates (GRCh38): 20:49,632,945-49,713,878 (from NCBI)

This gene has 1 transcript (splice variant), 223 orthologues and 6 paralogues. Ubiquitous expression in bone marrow (RPKM 36.1), adrenal (RPKM 25.6) and 24 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。该基因编码的酶的功能尚不清楚。该基因之前被命名为 B4GALT4,但被重命名为 B4GALT5。在文献中它也被称为 beta4GalT2。[RefSeq 提供,2008 年 7 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. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]

B4GALT5 基因产物(1)

mRNA Protein Name
NM_004776.4 NP_004767.1 beta-1,4-galactosyltransferase 5
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IMP
IMP: 通过突变表型推断
24498430 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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

B4GALT5 蛋白结构

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (114 - 249)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (253 - 329)

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  • 388 a.a.
蛋白主名 其他名称

beta-1,4-galactosyltransferase 5

UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5

B4GALT5 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
B4GALT5 O43286 HSPA13 Homo sapiens P48723 33961781
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
Spindle Cell Liposarcoma
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 B4GALT5 VGNC VGNC:70212
Felis catus B4GALT5 VGNC VGNC:68996
Canis familiaris B4GALT5 VGNC VGNC:38353
Rattus norvegicus B4GALT5 RGD RGD:1310062
Bos taurus B4GALT5 VGNC VGNC:26392
Mus musculus B4GALT5 MGD MGI:1927169