1. Gene
  2. PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

PI4K2A - phosphatidylinositol 4-kinase type 2 alpha Gene

中文名称:磷脂酰肌醇 4-激酶 2 型α

种属: Homo sapiens

同用名: PI4KII; PIK42A

基因 ID: 55361 | 基因类型: protein coding

关于 PI4K2A

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,640,671-97,676,434 (from NCBI)

This gene has 1 transcript (splice variant), 224 orthologues and 1 paralogue. Ubiquitous expression in placenta (RPKM 11.9), gall bladder (RPKM 10.1) and 25 other tissues.

功能概要

磷脂酰肌醇多磷酸盐 (PtdInsPs) 主要参与许多生物过程,从细胞生长和肌动蛋白细胞骨架的组织到胞吐作用和胞吐作用。 PI4KII 在 D-4 位置磷酸化 PtdIns,这是 PtdInsPs 生物合成的重要步骤 (Barylko 等人,2001 [PubMed 11244087]) 。[OMIM 提供,2008 年 3 月]

Phosphatidylinositolpolyphosphates (PtdInsPs) are centrally involved in many biologic processes, ranging from cell growth and organization of the actin Cytoskeleton to endo- and exocytosis. PI4KII phosphorylates PtdIns at the D-4 position, an essential step in the biosynthesis of PtdInsPs (Barylko et al., 2001 [PubMed 11244087]).[supplied by OMIM, Mar 2008]

PI4K2A 基因产物(1)

mRNA Protein Name
NM_018425.4 NP_060895.1 phosphatidylinositol 4-kinase type 2-alpha
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 1-phosphatidylinositol 4-kinase activity IDA
IDA: 通过直接分析推断
11279162 GOA
enables AP-3 adaptor complex binding IDA
IDA: 通过直接分析推断
21998198 GOA
enables ATP binding IDA
IDA: 通过直接分析推断
24675427 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21998198 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylinositol biosynthetic process IDA
IDA: 通过直接分析推断
11279162 GOA
involved in phosphatidylinositol phosphate biosynthetic process IDA
IDA: 通过直接分析推断
11923287 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BLOC-1 complex IDA
IDA: 通过直接分析推断
21998198 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
12324459 GOA
located in early endosome membrane IDA
IDA: 通过直接分析推断
11923287 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
35880319 GOA
located in membrane IDA
IDA: 通过直接分析推断
24675427 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
11279162 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11279162 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

PI4K2A 蛋白结构

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (135 - 437)

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  • 479 a.a.
蛋白主名 其他名称

phosphatidylinositol 4-kinase type 2-alpha

phosphatidylinositol 4-kinase type II (PI4KII)

PI4K2A 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
种属内
PI4K2A Q9BTU6 ITCH Homo sapiens Q96J02 23146885
种属内
PI4K2A Q9BTU6 ITCH Homo sapiens Q96J02
NMR
23146885
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
Cutis Laxa, Autosomal Recessive, Type Iid

ARCL2D

Autosomal Recessive Cutis Laxa Type Iid

Autosomal Recessive Cutis Laxa Type 2d

Cutis Laxa, Autosomal Recessive, 2d

Cutis Laxa, Autosomal Dominant 3

ADCL3

Autosomal Dominant Cutis Laxa 3

Cutis Laxa, Autosomal Dominant, 3

Congenital Aphakia

Congenital Absence Of Lens

Aphakia, Congenital Primary

Agenesis Of Lens

Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms

Spastic Paraplegia 15, Autosomal Recessive

SPG15

Kjellin Syndrome

Hereditary Spastic Paraplegia 15

Spastic Paraplegia And Retinal Degeneration

Autosomal Recessive Spastic Paraplegia Type 15

Hereditary Spastic Paraparesis Type 15

Spastic Paraplegia-Retinal Degeneration Syndrome

Autosomal Recessive Spastic Paraplegia 15

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome

Macrocephaly-Intellectual Disability-Autism Syndrome

MCEPHAS

Autosomal Recessive Cutis Laxa Type Ii Classic Type

Arcl2, Classic Type

Arcl2, Debre Type

Autosomal Recessive Cutis Laxa Type 2, Classic Type

Autosomal Recessive Cutis Laxa Type 2, Debre Type

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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 PI4K2A VGNC VGNC:110529
Felis catus PI4K2A VGNC VGNC:110546
Mus musculus PI4K2A MGD MGI:1934031
Bos taurus PI4K2A VGNC VGNC:107302
Rattus norvegicus PI4K2A RGD RGD:620485
Others PI4K2A NCBI