PI4KA - phosphatidylinositol 4-kinase alpha Gene

Also Known as SPG84; GIDID2; PIK4CA; PMGYCHA; pi4K230; PI4K-ALPHA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5297

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables kinase activity	IDA IDA: Inferred from direct assay	25327288	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14676841	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in modulation by host of viral process	IMP IMP: Inferred from mutant phenotype	19376974	GOA
acts upstream of or within phosphorylation	IDA IDA: Inferred from direct assay	25327288	GOA
involved in reorganization of cellular membranes to establish viral sites of replication	IMP IMP: Inferred from mutant phenotype	19376974	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	23229899	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23229899	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PI4KA Protein Structure

PI3Ka

PI3_PI4_kinase

0
400
800
1200
1600
2000
2102 a.a.

Protein Preferred Names	Protein Names
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 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Cross	PI4KA	P42356	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Confocal	23675303
Cross	PI4KA	P42356	Q99IB8-PRO_0000045602	Hepatitis C virus	Q99IB8-PRO_0000045602	Anti Tag CoIP	23675303
Cross	PI4KA	P42356	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Anti Tag CoIP	21297162
Cross	PI4KA	P42356	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Confocal	21297162
Cross	PI4KA	P42356	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Y2H	15607035
Cross	PI4KA	P42356	P27958-PRO_0000037576	Hepatitis C virus	P27958-PRO_0000037576	Pull Down	15607035

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-125118	GSK-A1	Inhibitor	99.04%	Unkown
HY-100603	GSK-F1	Inhibitor	95.06%	Unkown
HY-RS10466	PI4KA Human Pre-designed siRNA Set A		/	Unkown
HY-RS10467	Pi4ka Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS10468	Pi4ka Rat Pre-designed siRNA Set A		/	Unkown
HY-100603B	(R)-GSK-F1	Inhibitor	/	Unkown
HY-148956	PI4KA-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	PI4KA	NCBI