B3GALNT1 - beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) Gene

中文名称：beta-1,3-N-乙酰半乳糖氨基转移酶 1 (球糖苷血型)

种属: Homo sapiens

同用名: P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; B3GALANT1; beta3Gal-T3

关于 B3GALNT1

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) 。该基因编码的蛋白质根本不使用 N-乙酰葡糖胺作为受体糖。[RefSeq 提供，2017 年 3 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). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]