2. Gene
  3. PI4KA - phosphatidylinositol 4-kinase alpha Gene

PI4KA - phosphatidylinositol 4-kinase alpha Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷脂酰肌醇 4-激酶 α

种属: Homo sapiens

同用名: SPG84; GIDID2; PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA

基因 ID: 5297 | 基因类型: protein coding

关于 PI4KA

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:20,707,691-20,858,811 (from NCBI)

This gene has 18 transcripts (splice variants), 209 orthologues, 9 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 52.3), testis (RPKM 23.0) and 24 other tissues.

功能概要

该基因编码磷脂酰肌醇 (PI) 4-激酶，该酶催化磷脂酰肌醇 4,5-二磷酸生物合成中的第一个关键步骤。哺乳动物 PI 4-激酶已根据其分子量以及去污剂和腺苷的调节分为两种类型，II 和 III。该基因编码的蛋白质是一种不受腺苷抑制的 III 型酶。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2018 年 4 月]

This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III Enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]

PI4KA 基因产物(10)

mRNA Protein Name
NM_001362863.2 NP_001349792.1 phosphatidylinositol 4-kinase alpha isoform 3
XM_047441409.1 XP_047297365.1 phosphatidylinositol 4-kinase alpha isoform X4
XM_011530228.3 XP_011528530.1 phosphatidylinositol 4-kinase alpha isoform X5
XM_005261635.2 XP_005261692.1 phosphatidylinositol 4-kinase alpha isoform X2
NM_001362862.2 NP_001349791.1 phosphatidylinositol 4-kinase alpha isoform 2
XM_011530226.2 XP_011528528.1 phosphatidylinositol 4-kinase alpha isoform X3
NM_058004.4 NP_477352.3 phosphatidylinositol 4-kinase alpha isoform 1
NM_002650.2
XM_047441408.1 XP_047297364.1 phosphatidylinositol 4-kinase alpha isoform X1
XM_047441410.1 XP_047297366.1 phosphatidylinositol 4-kinase alpha isoform X6
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 kinase activity IDA
IDA: 通过直接分析推断
25327288 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14676841 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in modulation by host of viral process IMP
IMP: 通过突变表型推断
19376974 GOA
acts upstream of or within phosphorylation IDA
IDA: 通过直接分析推断
25327288 GOA
involved in reorganization of cellular membranes to establish viral sites of replication IMP
IMP: 通过突变表型推断
19376974 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
23229899 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
23229899 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

PI4KA 蛋白结构

PI3Ka

PI3Ka: Phosphoinositide 3-kinase family, accessory domain (PIK domain) (1586 - 1725)

PI3_PI4_kinase

PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (1846 - 2050)

  • 0
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  • 2000
  • 2102 a.a.
蛋白主名 其他名称

phosphatidylinositol 4-kinase alpha

PI4-kinase alpha

phosphatidylinositol 4-kinase 230

phosphatidylinositol 4-kinase III alpha

phosphatidylinositol 4-kinase IIII+/-

phosphatidylinositol 4-kinase, catalytic, alpha

phosphatidylinositol 4-kinase, type III, alpha

ptdIns-4-kinase alpha

testicular secretory protein Li 35

PI4KA 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
种属间
PI4KA P42356 Q99IB8-PRO_0000045602 Hepatitis C virus Q99IB8-PRO_0000045602
Confocal
23675303
种属间
PI4KA P42356 Q99IB8-PRO_0000045602 Hepatitis C virus Q99IB8-PRO_0000045602
Anti Tag CoIP
23675303
种属间
PI4KA P42356 P27958-PRO_0000037576 Hepatitis C virus P27958-PRO_0000037576
Anti Tag CoIP
21297162
种属间
PI4KA P42356 P27958-PRO_0000037576 Hepatitis C virus P27958-PRO_0000037576
Confocal
21297162
种属间
PI4KA P42356 P27958-PRO_0000037576 Hepatitis C virus P27958-PRO_0000037576
Y2H
15607035
种属间
PI4KA P42356 P27958-PRO_0000037576 Hepatitis C virus P27958-PRO_0000037576
Pull Down
15607035
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
Polymicrogyria

Pmg
Hepatitis

Chronic Hepatitis

Chronic Persistent Hepatitis

Acute Hepatitis

Hepatitis, Chronic

Acute And Subacute Liver Necrosis

Acute/Subac. Necrosis Of Liver

Animal Hepatitis

Hepatitis Chronic

Hepatitis A

Hepatitis, Animal

Hepatitis Due To Toxoplasmosis

Hepatitis In Toxoplasmosis

Toxoplasmal Hepatitis

Chronic Hepatitis, Unspecified

Chronic Active Hepatitis Nec

Other Specified Chronic Hepatitis

Chronic Persistent Hepatitis Nec

Chronic Lobular Hepatitis Nec
Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

22q11.2 Distal Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2 ,Distal
Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Yunis Varon Syndrome

YVS

Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

Yunis-Varón Syndrome
Hepatitis C

Chronic Hepatitis C

Hepatitis C Infection

Hepatitis Nona Nonb

Nanbh

Viral Hepatitis C

Hepatitis C Chronic

Hepatitis C, Chronic

Chronic Type C Viral Hepatitis

Chronic Hcv - [Hepatitis C Virus] Infection

Hepatitis C Nos

Hepatitis C Infection Nos

Hepatitis C-Related Cirrhosis

Type C Viral Hepatitis

Hep C Nos
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Hypomyelinating Leukodystrophy

Hld

Leukodystrophy, Hypomyelinating
Mouth Disease

Mouth Diseases

Mouth Disorders
Leukodystrophy

Leukodystrophies
Klippel-Feil Syndrome 4
Hepatitis C Virus

Hepatitis C Virus, Susceptibility To

Hepatitis C Virus Infection, Response To Therapy Of

Hcv

Hcv, Susceptibility To

Hepatitis C Virus, Resistance To

Hepatitis C Virus, Response To Therapy Of

Resistance To Hepatitis C Virus
Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp
Heparin Cofactor Ii Deficiency

Thrombophilia Due To Heparin Cofactor Ii Deficiency

THPH10

Hcf Ii Deficiency

Hcf2 Deficiency

Thrombophilia 10 Due To Heparin Cofactor Ii Deficiency

Hcf 2 Deficiency

Thrombophilia Due To Heparin Cofactor 2 Deficiency

Thrombophilia, Due To Heparin Cofactor Ii Deficiency
Spastic Paraplegia 84, Autosomal Recessive

SPG84

Hereditary Spastic Paraplegia 84

Spastic Paraplegia 84 Autosomal Recessive

Doid:0112347
Intestinal Atresia
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities

Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis

NEDSPLB

Pmgycha
Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Mental Retardation And Progressive Skeletal Sclerosis

Lms
Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory
Gastrointestinal Defects And Immunodeficiency Syndrome 2

GIDID2

Multiple Intestinal Atresia With Or Without Leukopenia
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-125118 GSK-A1 Inhibitor ≥99.0% 否
HY-100603 GSK-F1 Inhibitor 95.00% 否
HY-RS10466 PI4KA Human Pre-designed siRNA Set A / 否
HY-RS10467 Pi4ka Mouse Pre-designed siRNA Set A / 否
HY-RS10468 Pi4ka Rat Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PI4KA RGD RGD:621213
Bos taurus PI4KA VGNC VGNC:56989
Felis catus PI4KA VGNC VGNC:97556
Macaca mulatta PI4KA VGNC VGNC:97116
Canis familiaris PI4KA VGNC VGNC:59063
Mus musculus PI4KA MGD MGI:2448506
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