1. Gene
  2. PIGS - phosphatidylinositol glycan anchor biosynthesis class S Gene

PIGS - phosphatidylinositol glycan anchor biosynthesis class S Gene

中文名称:磷脂酰肌醇聚糖锚生物合成 S 类

种属: Homo sapiens

同用名: DEE95; PIG-S; GPIBD18

基因 ID: 94005 | 基因类型: protein coding

关于 PIGS

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,553,387-28,571,524 (from NCBI)

This gene has 35 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 16.8), kidney (RPKM 16.1) and 25 other tissues.

功能概要

该基因编码一种参与 GPI 锚生物合成的蛋白质。糖基磷脂酰肌醇 (GPI) 锚是一种在许多血细胞上发现的糖脂,用于将蛋白质锚定到细胞表面。该基因编码多亚基酶 GPI 转酰胺酶的重要组成部分。 GPI 转酰胺酶通过催化完全组装的 GPI 单位向蛋白质的转移,介导 GPI 在内质网中的锚定。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit Enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

PIGS 基因产物(1)

mRNA Protein Name
NM_033198.4 NP_149975.1 GPI transamidase component PIG-S

PIGS 蛋白结构

PIG-S

PIG-S: Phosphatidylinositol-glycan biosynthesis class S protein (21 - 550)

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  • 500
  • 555 a.a.
蛋白主名 其他名称

GPI transamidase component PIG-S

GPI transamidase subunit

PIGS 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 PIGS Q96S52 KRT40 Homo sapiens Q6A162
Validated Y2H
25416956
Intra PIGS Q96S52 KRTAP10-9 Homo sapiens P60411
Y2H Array
32296183
Intra PIGS Q96S52 KRTAP10-9 Homo sapiens P60411
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP9-2 Homo sapiens Q9BYQ4
Validated Y2H
32296183
Intra PIGS Q96S52 KRTAP9-2 Homo sapiens Q9BYQ4
Y2H Array
32296183
Intra PIGS Q96S52 KRTAP9-2 Homo sapiens Q9BYQ4
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Array
32296183
Intra PIGS Q96S52 KRTAP19-2 Homo sapiens Q3LHN2
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP19-2 Homo sapiens Q3LHN2
Y2H Array
32296183
Intra PIGS Q96S52 KRTAP2-4 Homo sapiens Q9BYR9
Y2H Array
32296183
Intra PIGS Q96S52 KRTAP2-4 Homo sapiens Q9BYR9
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP2-4 Homo sapiens Q9BYR9
Validated Y2H
32296183
Intra PIGS Q96S52 NOTCH2NLC Homo sapiens P0DPK4
Y2H Array
32296183
Intra PIGS Q96S52 NOTCH2NLC Homo sapiens P0DPK4
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP6-3 Homo sapiens Q3LI67
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 KRTAP6-3 Homo sapiens Q3LI67
Y2H Array
32296183
Intra PIGS Q96S52 PIGT Homo sapiens Q969N2
Anti Tag CoIP
12802054
Intra PIGS Q96S52 PIGT Homo sapiens Q969N2
Anti Tag CoIP
11483512
Intra PIGS Q96S52 TRIP6 Homo sapiens Q15654
Y2H Prey Pooling
32296183
Intra PIGS Q96S52 TRIP6 Homo sapiens Q15654
Y2H Array
32296183
Intra PIGS Q96S52 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
25416956
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
Developmental And Epileptic Encephalopathy 95

Glycosylphosphatidylinositol Biosynthesis Defect 18

GPIBD18

DEE95

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4

Glycosylphosphatidylinositol Biosynthesis Defect 19

Gpibd19

Developmental And Epileptic Encephalopathy 77

Epileptic Encephalopathy, Early Infantile, 77

Dee77

Eiee77

Developmental And Epileptic Encephalopathy, 77

Early Infantile Epileptic Encephalopathy 77

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4

Developmental And Epileptic Encephalopathy 55

DEE55

Glycosylphosphatidylinositol Biosynthesis Defect 14

Gpibd14

Epileptic Encephalopathy, Early Infantile, 55

Eiee55

Developmental And Epileptic Encephalopathy, 55

Early Infantile Epileptic Encephalopathy 55

Encephalopathy, Epileptic, Early Infantile, Type 55

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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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