1. Gene
  2. B3GNT5 - UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 Gene

B3GNT5 - UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 Gene

中文名称:UDP-GlcNAc:betaGal beta-1,3-N-乙酰氨基葡萄糖转移酶 5

种属: Homo sapiens

同用名: B3GN-T5; beta3Gn-T5

基因 ID: 84002 | 基因类型: protein coding

关于 B3GNT5

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,253,253-183,273,385 (from NCBI)

This gene has 12 transcripts (splice variants), 250 orthologues and 15 paralogues. Broad expression in bone marrow (RPKM 17.8), small intestine (RPKM 13.8) and 20 other tissues.

功能概要

该基因编码 beta-1,3-N-乙酰氨基葡萄糖转移酶家族的成员。这种酶是一种 II 型膜蛋白。它表现出将 GlcNAc 转移到糖脂底物的强烈活性,并被确定为最有可能的乳糖神经酰胺合酶候选物。这种酶对于糖脂上 Lewis X 表位的表达是必不可少的。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This Enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This Enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]

B3GNT5 基因产物(1)

mRNA Protein Name
NM_032047.5 NP_114436.1 lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase

B3GNT5 蛋白结构

Galactosyl_T

Galactosyl_T: Galactosyltransferase (102 - 299)

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

lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase

BGnT-5

关联疾病

疾病名称 别名
Salt And Pepper Syndrome

Salt & Pepper Syndrome

Salt-And-Pepper Syndrome

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 B3GNT5 VGNC VGNC:60057
Macaca mulatta B3GNT5 VGNC VGNC:70077
Canis familiaris B3GNT5 VGNC VGNC:38343
Rattus norvegicus B3GNT5 RGD RGD:70955
Mus musculus B3GNT5 MGD MGI:2137302
Bos taurus B3GNT5 VGNC VGNC:26381