1. Gene
  2. PLEKHN1 - pleckstrin homology domain containing N1 Gene

PLEKHN1 - pleckstrin homology domain containing N1 Gene

中文名称:含 pleckstrin 同源结构域 N1

种属: Homo sapiens

同用名: CLPABP

基因 ID: 84069 | 基因类型: protein coding

关于 PLEKHN1

This gene has 5 transcripts (splice variants), 126 orthologues and 22 paralogues. Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues.

功能概要

启用磷脂结合活性。参与 3'-UTR 介导的 mRNA 去稳定化;凋亡过程的正调控;和对缺氧的反应。位于细胞骨架和线粒体膜上。 [由基因组资源联盟提供,2022 年 4 月]

Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in Cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHN1 基因产物(4)

mRNA Protein Name
NM_001160184.2 NP_001153656.1 pleckstrin homology domain-containing family N member 1 isoform b
NM_001367552.1 NP_001354481.1 pleckstrin homology domain-containing family N member 1 isoform c
NM_001410697.1 NP_001397626.1 pleckstrin homology domain-containing family N member 1 isoform d
NM_032129.3 NP_115505.2 pleckstrin homology domain-containing family N member 1 isoform a
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
enables cardiolipin binding IDA
IDA: 通过直接分析推断
18191643 GOA
enables phosphatidic acid binding IDA
IDA: 通过直接分析推断
18191643 GOA
enables phosphatidylinositol phosphate binding IDA
IDA: 通过直接分析推断
18191643 GOA
enables phosphatidylserine binding IDA
IDA: 通过直接分析推断
18191643 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18191643 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 3'-UTR-mediated mRNA destabilization IDA
IDA: 通过直接分析推断
29180010 GOA
involved in positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
29531808 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
29531808 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoskeleton IDA
IDA: 通过直接分析推断
18191643 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
18191643 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
27616329 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
蛋白主名 其他名称

pleckstrin homology domain-containing family N member 1

PH domain-containing family N member 1

PLEKHN1 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 PLEKHN1 Q494U1 TP53BP2 Homo sapiens Q13625-3
Y2H Prey Pooling
25416956
Intra PLEKHN1 Q494U1 REL Homo sapiens Q04864
Validated Y2H
25416956
Intra PLEKHN1 Q494U1 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra PLEKHN1 Q494U1 TRAF1 Homo sapiens Q13077
Validated Y2H
25416956
Intra PLEKHN1 Q494U1 TAX1BP1 Homo sapiens Q86VP1
Validated Y2H
25416956
Intra PLEKHN1 Q494U1 TAX1BP1 Homo sapiens Q86VP1
Y2H Array
25416956
Intra PLEKHN1 Q494U1 TCF4 Homo sapiens P15884
Y2H Prey Pooling
25416956
Intra PLEKHN1 Q494U1 TRIM27 Homo sapiens P14373
Y2H Array
25416956
Intra PLEKHN1 Q494U1 CBY2 Homo sapiens Q8NA61
Validated Y2H
25416956
Intra PLEKHN1 Q494U1 CBY2 Homo sapiens Q8NA61
Y2H Array
25416956
Intra PLEKHN1 Q494U1 LPXN Homo sapiens O60711
Validated Y2H
25416956
Intra PLEKHN1 Q494U1 RFX6 Homo sapiens Q8HWS3
Y2H Prey Pooling
25416956
Intra PLEKHN1 Q494U1 RFX6 Homo sapiens Q8HWS3
Validated Y2H
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
Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8

CMS8

Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects

Cmsppd

Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects

Congenital Myasthenic Syndrome Due To Agrin Deficiency

Myasthenic Syndrome, Congenital, Due To Agrin Deficiency

Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects

Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Neuropathy, Hereditary Sensory And Autonomic, Type Vii

Hereditary Sensory And Autonomic Neuropathy Type 7

HSAN7

Hereditary Sensory And Autonomic Neuropathy Type Vii

Hsan Vii

Cip With Hyperhidrosis And Gastrointestinal Dysfunction

Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction

Hsan With Hyperhidrosis And Gastrointestinal Dysfunction

Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction

Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Hereditary Sensory And Autonomic, 7

Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis

Neuropathy, Sensory And Autonomic, Hereditary, Type Vii

Neuropathy, Hereditary Sensory And Autonomic, Type Viii

HSAN8

Hsan Viii

Hereditary Sensory And Autonomic Neuropathy Type 8

Hereditary Sensory And Autonomic Neuropathy Type Viii

Neuropathy, Hereditary Sensory And Autonomic, 8

Neuropathy, Sensory And Autonomic, Hereditary, Type Viii

Neuropathy, Hereditary Sensory And Autonomic, Type V

HSAN5

Hereditary Sensory And Autonomic Neuropathy Type V

Hsan V

Hereditary Sensory And Autonomic Neuropathy Type 5

Congenital Insensitivity To Pain

Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers

Hsan Type V

Insensitivity To Pain, Congenital

Hereditary Sensory And Autonomic Neuropathy, Type 5

Congenital Insensitivity To Pain And Thermal Analgesia

Neuropathy, Hereditary Sensory And Autonomic, 5

Hereditary Sensory Neuropathy Type V

Hsn V

Pain Insensitivity, Congenital

Neuropathy, Sensory And Autonomic, Hereditary, Type V

Hereditary Sensory Autonomic Neuropathy, Type 5

Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]

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
Macaca mulatta PLEKHN1 VGNC VGNC:76108
Felis catus PLEKHN1 VGNC VGNC:64238
Bos taurus PLEKHN1 VGNC VGNC:33025
Mus musculus PLEKHN1 MGD MGI:2387630
Rattus norvegicus PLEKHN1 RGD RGD:1311019
Canis familiaris PLEKHN1 VGNC VGNC:44686