1. Gene
  2. UGGT1 - UDP-glucose glycoprotein glucosyltransferase 1 Gene

UGGT1 - UDP-glucose glycoprotein glucosyltransferase 1 Gene

中文名称:UDP-葡萄糖糖蛋白葡糖基转移酶 1

种属: Homo sapiens

同用名: UGT1; HUGT1; UGCGL1

基因 ID: 56886 | 基因类型: protein coding

关于 UGGT1

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:128,091,200-128,195,677 (from NCBI)

This gene has 7 transcripts (splice variants), 218 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 7.1), colon (RPKM 6.3) and 25 other tissues.

功能概要

UDP-葡萄糖:糖蛋白葡糖基转移酶 (UGT) 是内质网 (ER) 的一种可溶性蛋白质,可选择性地重新糖基化未折叠的糖蛋白,从而为蛋白质转运出 ER 提供质量控制。[OMIM 提供,2009 年 10 月]

UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

UGGT1 基因产物(1)

mRNA Protein Name
NM_020120.4 NP_064505.1 UDP-glucose:glycoprotein glucosyltransferase 1 precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables UDP-glucose:glycoprotein glucosyltransferase activity IDA
IDA: 通过直接分析推断
10694380 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23349634 GOA
enables unfolded protein binding IDA
IDA: 通过直接分析推断
10694380 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
10694380 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23349634 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

UGGT1 蛋白结构

UDP-g_GGTase

UDP-g_GGTase: UDP-glucose:Glycoprotein Glucosyltransferase (944 - 1150)

  • 0
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  • 1200
  • 1555 a.a.
蛋白主名 其他名称

UDP-glucose:glycoprotein glucosyltransferase 1

UDP--Glc:glycoprotein glucosyltransferase

关联疾病

疾病名称 别名
Pulmonary Subvalvular Stenosis

Pulmonary Infundibular Stenosis

Congenital Infundibular Stenosis

Infundibular Pulmonic Stenosis

Infundibular Pulmonic Stenosis, Congenital

Subvalvular Pulmonic Stenosis

Terminal Osseous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defects

Terminal Osseous Dysplasia-Pigmentary Defects Syndrome

Todpd

TOD

Odpd

Odpf Syndrome

Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula

Odpf

Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula

Terminal Osseous Dysplasia With Pigmentary Defects

Dcd

Digitocutaneous Dysplasia

Terminal Osseous Dysplasia And Pigmentary Defect Syndrome

Osseous Dysplasia And Pigmentary Defects

Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

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 UGGT1 MGD MGI:2443162
Bos taurus UGGT1 VGNC VGNC:36649
Rattus norvegicus UGGT1 RGD RGD:619710
Felis catus UGGT1 VGNC VGNC:66806
Macaca mulatta UGGT1 VGNC VGNC:78981
Canis familiaris UGGT1 VGNC VGNC:48118