1. Gene
  2. PIGU - phosphatidylinositol glycan anchor biosynthesis class U Gene

PIGU - phosphatidylinositol glycan anchor biosynthesis class U Gene

中文名称:磷脂酰肌醇聚糖锚生物合成 U 类

种属: Homo sapiens

同用名: GAB1; PIG-U; NEDBSS; CDC91L1; GPIBD21

基因 ID: 128869 | 基因类型: protein coding

关于 PIGU

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:34,560,542-34,677,092 (from NCBI)

This gene has 6 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 6.6), ovary (RPKM 5.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质与酿酒酵母 Cdc91 具有相似性,后者是一种预测的整合膜蛋白,可能在细胞分裂控制中发挥作用。由该基因编码的蛋白质是 GPI 转酰胺酶的第五个亚基,可将 GPI 锚点连接到蛋白质上。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

PIGU 基因产物(1)

mRNA Protein Name
NM_080476.5 NP_536724.1 phosphatidylinositol glycan anchor biosynthesis class U protein precursor
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
contributes to GPI anchor binding IMP
IMP: 通过突变表型推断
12802054 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GPI anchor biosynthetic process IDA
IDA: 通过直接分析推断
15034568 GOA
involved in attachment of GPI anchor to protein IMP
IMP: 通过突变表型推断
12802054 GOA
involved in regulation of receptor signaling pathway via JAK-STAT IDA
IDA: 通过直接分析推断
15034568 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GPI-anchor transamidase complex IDA
IDA: 通过直接分析推断
12802054 GOA
part of GPI-anchor transamidase complex IPI
IPI: 通过物理相互作用推断
12802054 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
15034568 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

PIGU 蛋白结构

PIG-U

PIG-U: GPI transamidase subunit PIG-U (11 - 394)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 435 a.a.
蛋白主名 其他名称

phosphatidylinositol glycan anchor biosynthesis class U protein

CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1

PIGU 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra PIGU Q9H490 KASH5 Homo sapiens Q8N6L0
Y2H Array
32296183
Intra PIGU Q9H490 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis

Glycosylphosphatidylinositol Biosynthesis Defect 21

NEDBSS

Gpibd21

Developmental And Epileptic Encephalopathy 80

DEE80

Glycosylphosphatidylinositol Biosynthesis Defect 20

Gpibd20

Epileptic Encephalopathy, Early Infantile, 80

Eiee80

Developmental And Epileptic Encephalopathy, 80

Early Infantile Epileptic Encephalopathy 80

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 PIGU VGNC VGNC:64169
Bos taurus PIGU VGNC VGNC:32879
Mus musculus PIGU MGD MGI:3039607
Rattus norvegicus PIGU RGD RGD:727825
Canis familiaris PIGU VGNC VGNC:44543
Macaca mulatta PIGU VGNC VGNC:107915