1. Gene
  2. B3GALT1 - beta-1,3-galactosyltransferase 1 Gene

B3GALT1 - beta-1,3-galactosyltransferase 1 Gene

中文名称:β-1,3-半乳糖基转移酶 1

种属: Homo sapiens

同用名: beta3Gal-T1

基因 ID: 8708 | 基因类型: protein coding

关于 B3GALT1

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:167,293,001-167,874,045 (from NCBI)

This gene has 1 transcript (splice variant), 272 orthologues and 15 paralogues. Biased expression in colon (RPKM 1.2), brain (RPKM 0.9) and 2 other tissues.

功能概要

该基因是 beta-1,3-半乳糖基转移酶 (beta3GalT) 基因家族的成员。该家族使用不同的供体底物 (UDP-半乳糖和 UDP-N-乙酰氨基葡萄糖) 和不同的受体糖 (N-乙酰氨基葡萄糖、半乳糖、N-乙酰半乳糖胺) 编码具有不同酶功能的 II 型膜结合糖蛋白。 beta3GalT 基因与 Drosophila Brainiac 基因有远缘关系,其蛋白质编码序列包含在单个外显子中。 beta3GalT 蛋白还包含在 beta4GalT 或 alpha3GalT 蛋白中未发现的保守序列。由这些酶合成的碳水化合物链被指定为 1 型,而 beta4GalT 酶合成 2 型碳水化合物链。 1 型:2 型链的比例在胚胎发生过程中发生变化。通过序列相似性,beta3GalT 基因至少分为两组:beta3GalT4 和 4 个其他 beta3GalT 基因 (beta3GalT1-3、beta3GalT5) 。该基因仅在大脑中表达。编码的蛋白质对 UDP-半乳糖显示出严格的供体底物特异性。[RefSeq 提供,2008 年 7 月]

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these Enzymes are designated as type 1, whereas beta4GalT Enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 Other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]

B3GALT1 基因产物(1)

mRNA Protein Name
NM_020981.4 NP_066191.1 beta-1,3-galactosyltransferase 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 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IDA
IDA: 通过直接分析推断
9582303 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
9582303 GOA
involved in lipid glycosylation IDA
IDA: 通过直接分析推断
9582303 GOA
involved in oligosaccharide biosynthetic process IDA
IDA: 通过直接分析推断
9582303 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

B3GALT1 蛋白结构

Galactosyl_T

Galactosyl_T: Galactosyltransferase (93 - 281)

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  • 326 a.a.
蛋白主名 其他名称

beta-1,3-galactosyltransferase 1

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1

关联疾病

疾病名称 别名
Gluten Allergy

Allergy To Gluten

Gluten Allergic Reaction

Cervical Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Cervix

Adenosquamous Cell Carcinoma Of The Cervix Uteri

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 B3GALT1 RGD RGD:1311898
Bos taurus B3GALT1 VGNC VGNC:26372
Canis familiaris B3GALT1 VGNC VGNC:38333
Felis catus B3GALT1 VGNC VGNC:68930
Macaca mulatta B3GALT1 VGNC VGNC:70204
Mus musculus B3GALT1 MGD MGI:1349403