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  2. B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

中文名称:β-1,4-半乳糖基转移酶 4

种属: Homo sapiens

同用名: B4Gal-T4; beta4Gal-T4

基因 ID: 8702 | 基因类型: protein coding

关于 B4GALT4

Cytogenetic location: 3q13.32 Genomic coordinates (GRCh38): 3:119,211,742-119,240,878 (from NCBI)

This gene has 20 transcripts (splice variants), 233 orthologues and 6 paralogues. Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 15.3) and 25 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。由该基因编码的酶似乎主要在糖脂生物合成中发挥作用。已发现该基因的两个可变剪接转录物变体。[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 Enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

B4GALT4 基因产物(2)

mRNA Protein Name
NM_003778.4 NP_003769.1 beta-1,4-galactosyltransferase 4
NM_212543.2 NP_997708.1 beta-1,4-galactosyltransferase 4
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetyllactosamine synthase activity IDA
IDA: 通过直接分析推断
9792633 GOA
enables UDP-galactosyltransferase activity IDA
IDA: 通过直接分析推断
9792633 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32827291 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in keratan sulfate biosynthetic process IDA
IDA: 通过直接分析推断
17690104 GOA
involved in keratan sulfate biosynthetic process IMP
IMP: 通过突变表型推断
32827291 GOA
involved in lactosylceramide biosynthetic process IDA
IDA: 通过直接分析推断
9792633 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
32827291 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

B4GALT4 蛋白结构

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (77 - 210)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (214 - 289)

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

beta-1,4-galactosyltransferase 4

N-acetyllactosamine synthase

重组 B4GALT4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7630 B4GALT4 Protein, Human (HEK293, His) O60513 (Q39-A344) ≥95%

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

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Xgpt Deficiency

EDSSPD1

Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies

Edssla

Proteodermatan Sulfate, Defective Biosynthesis Of

Pds, Defective Biosynthesis Of

Dermatan Sulfate Proteoglycan

Galactosyltransferase I Deficiency

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

Spondylodysplastic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly

Edsp1, Formerly

Ehlers-Danlos Syndrome, Progeroid Type

Galactosyltransferase 1 Deficiency

Spondylodysplastic Eds

Speds

Defective Biosynthesis Of Pds

Defective Biosynthesis Of Proteodermatan Sulfate

Edsp1

Ehlers-Danlos Syndrome, Progeroid Type, 1

Proteodermatan Sulfate Defective Biosynthesis Of

Ehlers-Danlos, Spondylodysplastic Syndrome

Ehlers-Danlos Syndrome, Progeroid Form

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
Canis familiaris B4GALT4 VGNC VGNC:38352
Macaca mulatta B4GALT4 VGNC VGNC:70211
Felis catus B4GALT4 VGNC VGNC:68990
Mus musculus B4GALT4 MGD MGI:1928387
Rattus norvegicus B4GALT4 RGD RGD:1307880
Bos taurus B4GALT4 VGNC VGNC:26391
Others B4GALT4 NCBI