1. Gene
  2. PLA2G4E - phospholipase A2 group IVE Gene

PLA2G4E - phospholipase A2 group IVE Gene

中文名称:磷脂酶 A2 组 IVE

种属: Homo sapiens

基因 ID: 123745 | 基因类型: protein coding

关于 PLA2G4E

This gene has 9 transcripts (splice variants), 312 orthologues and 5 paralogues. Restricted expression toward skin (RPKM 22.1).

功能概要

该基因编码胞质磷脂酶 A2 IV 组家族的成员。该家族的成员参与调节膜小管介导的运输。由该家族成员编码的酶通过网格蛋白非依赖性内吞途径在运输中发挥作用。该酶通过形成小管来调节回收过程,小管将内化的网格蛋白非依赖性货物蛋白转运回细胞表面。[RefSeq 提供,2017 年 1 月]

This gene encodes a member of the cytosolic Phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]

PLA2G4E 基因产物(2)

mRNA Protein Name
NM_001206670.1 NP_001193599.1 cytosolic phospholipase A2 epsilon isoform 1
NM_001395548.1 NP_001382477.1 cytosolic phospholipase A2 epsilon isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acyltransferase activity IDA
IDA: 通过直接分析推断
29447909 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-acylphosphatidylethanolamine metabolic process IDA
IDA: 通过直接分析推断
29447909 GOA
involved in positive regulation of endocytic recycling IMP
IMP: 通过突变表型推断
24413173 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

PLA2G4E 蛋白结构

C2

C2: C2 domain (70 - 150)

PLA2_B

PLA2_B: Lysophospholipase catalytic domain (374 - 612)

  • 0
  • 200
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  • 800
  • 868 a.a.
蛋白主名 其他名称

cytosolic phospholipase A2 epsilon

cPLA2-epsilon

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iic

CDG2C

Congenital Disorder Of Glycosylation Type Iic

Leukocyte Adhesion Deficiency Type Ii

Cdg Iic

Cdgiic

Rambam-Hasharon Syndrome

Leukocyte Adhesion Deficiency, Type Ii

Lad2

Leukocyte Adhesion Deficiency 2

Cdg-Iic

Congenital Disorder Of Glycosylation, Type 2c

Rhs

Cdg Syndrome Type Iic

Lad-Ii

Rambam Hasharon Syndrome

Congenital Disorder Of Glycosylation 2c

Glycosylation, Congenital Disorder Of, Type Iic

Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency

Agat Deficiency

Gatm Deficiency

Creatine Deficiency Syndrome Due To Agat Deficiency

L-Arginine:Glycine Amidinotransferase Deficiency

CCDS3

L-Arginine:Glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3

Ectodermal Dysplasia 9, Hair/Nail Type

ECTD9

Ectodermal Dysplasia 9

Dysplasia, Ectodermal, Type 9, Hair/Nail

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 PLA2G4E VGNC VGNC:44628
Bos taurus PLA2G4E VGNC VGNC:55135
Rattus norvegicus PLA2G4E RGD RGD:1310595
Felis catus PLA2G4E VGNC VGNC:64201
Macaca mulatta PLA2G4E VGNC VGNC:84421
Mus musculus PLA2G4E MGD MGI:1919144