PI4KA - phosphatidylinositol 4-kinase alpha Gene

Homo sapiens

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

Gene ID: 5297 | Gene type: protein coding

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

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

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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-125118	GSK-A1	Inhibitor	≥99.0%	Unkown
HY-100603	GSK-F1		95.00%	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

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

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