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  2. B3GALT4 - beta-1,3-galactosyltransferase 4 Gene

B3GALT4 - beta-1,3-galactosyltransferase 4 Gene

中文名称:β-1,3-半乳糖基转移酶 4

种属: Homo sapiens

同用名: GALT2; GALT4; BETA3GALT4

基因 ID: 8705 | 基因类型: protein coding

关于 B3GALT4

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:33,277,123-33,278,825 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 184 orthologues and 15 paralogues.

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) 。该基因将端粒定向到着丝粒,靠近核糖体蛋白 S18 基因。编码蛋白质的功能仅限于神经节系列糖脂生物合成。[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 oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]

B3GALT4 基因产物(1)

mRNA Protein Name
NM_003782.4 NP_003773.1 beta-1,3-galactosyltransferase 4
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 ganglioside 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

B3GALT4 蛋白结构

Galactosyl_T

Galactosyl_T: Galactosyltransferase (85 - 308)

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

beta-1,3-galactosyltransferase 4

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 4

关联疾病

疾病名称 别名
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type

Ehlers-Danlos Syndrome, Progeroid Type, 2

EDSSPD2

Ehlers-Danlos Syndrome Spondylodysplastic Type 2

Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly

Edsp2, Formerly

Defective Biosynthesis Of Proteodermatan Sulfate

Xgpt Deficiency

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

B3galt6-Related Speds

B3galt6-Related Spondylodysplastic Eds

Beta3galt6-Deficient Eds

Ehlers-Danlos Syndrome Progeroid Type 2

Speds-B3galt6

Edsp2

Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2

Ehlers-Danlos Syndrome, Progeroid Form

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome

SMAPME

Sma-Pme

Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome

Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome

Hereditary Myoclonus With Progressive Distal Muscular Atrophy

Jankovic Rivera Syndrome

Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy

Myoclonus Hereditary Progressive Distal Muscular Atrophy

Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

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 B3GALT4 VGNC VGNC:68948
Mus musculus B3GALT4 MGD MGI:1859517
Canis familiaris B3GALT4 VGNC VGNC:38335
Macaca mulatta B3GALT4 VGNC VGNC:104311
Bos taurus B3GALT4 VGNC VGNC:26374
Rattus norvegicus B3GALT4 RGD RGD:620328