1. Gene
  2. HS3ST3B1 - heparan sulfate-glucosamine 3-sulfotransferase 3B1 Gene

HS3ST3B1 - heparan sulfate-glucosamine 3-sulfotransferase 3B1 Gene

中文名称:硫酸乙酰肝素-氨基葡萄糖 3-磺基转移酶 3B1

种属: Homo sapiens

同用名: 3OST3B1; 3-OST-3B; h3-OST-3B

基因 ID: 9953 | 基因类型: protein coding

关于 HS3ST3B1

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:14,301,081-14,349,404 (from NCBI)

This gene has 2 transcripts (splice variants), 471 orthologues and 10 paralogues. Broad expression in liver (RPKM 6.8), lymph node (RPKM 3.1) and 21 other tissues.

功能概要

该基因编码的蛋白质是属于 3-O-磺基转移酶家族的 II 型整合膜蛋白。这些蛋白质催化在硫酸乙酰肝素中氨基葡萄糖的 3-OH 位置添加硫酸基团。该家族个体成员的底物特异性基于硫酸乙酰肝素链的预先修饰,因此允许该家族的不同成员在相同的硫酸乙酰肝素链上为不同的蛋白质产生结合位点。在用组蛋白脱乙酰酶抑制剂处理后,该基因的表达在胰腺细胞系中被激活。增加的表达导致促进上皮-间充质转化。此外,该蛋白催化的修饰可使单纯疱疹病毒膜融合和穿透。具有几乎相同的磺基转移酶结构域的非常密切相关的同系物映射不到 1 Mb。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 12 月]

The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

HS3ST3B1 基因产物(1)

mRNA Protein Name
NM_006041.3 NP_006032.1 heparan sulfate glucosamine 3-O-sulfotransferase 3B1
蛋白主名 其他名称

heparan sulfate glucosamine 3-O-sulfotransferase 3B1

heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1

关联疾病

疾病名称 别名
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Dihydropyrimidinase Deficiency

Dihydropyrimidinuria

Dpys Deficiency

Dph Deficiency

DPYSD

Dihydrouracil Amidohydrolase Deficiency

Dihydropyrimidinuria Due To Dpys Deficiency

Overhydrated Hereditary Stomatocytosis

Ohs

Potassium Sodium Disorder Of Erythrocyte

OHST

Stomatocytosis I

Potassium-Sodium Disorder Of Erythrocyte

Stomatocytosisiohst

Hereditary, Overhydrated, Cation-Leak Stomatocytosis

Overhydrated Cation Leak Stomatocytosis

Stomatocytosis, Overhydrated Hereditary

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
Mus musculus HS3ST3B1 MGD MGI:1333853
Rattus norvegicus HS3ST3B1 RGD RGD:1307326