PIK3R4 - phosphoinositide-3-kinase regulatory subunit 4 Gene

Also Known as p150; VPS15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 30849

About PIK3R4

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,678,934-130,746,829 (from NCBI)

This gene has 8 transcripts (splice variants) and 216 orthologues. Ubiquitous expression in thyroid (RPKM 9.2), testis (RPKM 8.7) and 25 other tissues.

Summary

Predicted to enable protein serine/threonine kinase activity. Involved in positive regulation of phosphatidylinositol 3-kinase activity; receptor catabolic process; and regulation of cytokinesis. Located in late endosome and microtubule Cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]

PIK3R4 Products (1)

mRNA	Protein	Name
NM_014602.3	NP_055417.1	phosphoinositide 3-kinase regulatory subunit 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14617358	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome maturation	IDA IDA: Inferred from direct assay	10625637	GOA
involved in early endosome to late endosome transport	IDA IDA: Inferred from direct assay	14617358	GOA
involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA IDA: Inferred from direct assay	21062745	GOA
involved in phosphatidylinositol-3-phosphate biosynthetic process	IDA IDA: Inferred from direct assay	8999962	GOA
involved in receptor catabolic process	IMP IMP: Inferred from mutant phenotype	20643123	GOA
involved in regulation of autophagy	IDA IDA: Inferred from direct assay	16799551	GOA
involved in regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	20643123	GOA
involved in regulation of macroautophagy	IDA IDA: Inferred from direct assay	10625637	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in late endosome	IDA IDA: Inferred from direct assay	14617358	GOA
part of phosphatidylinositol 3-kinase complex, class III	IPI IPI: Inferred from physical interaction	25490155	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

PIK3R4 Protein Structure

Pkinase

WD40

0
300
600
900
1200
1358 a.a.

Protein Preferred Names	Protein Names
phosphoinositide 3-kinase regulatory subunit 4	PI3-kinase p150 subunit

PIK3R4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Anti Tag CoIP	24785657
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Y2H Array	32296183
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Pull Down	32707033
Intra	PIK3R4	Q99570	NRBF2	Homo sapiens	Q96F24	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

PIK3R4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83078	PI 3 Kinase p150 Antibody (YA2823)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P84751	PI 3 Kinase p150 Antibody (YA4448)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84751A	PI 3 Kinase p150 Antibody (YA4448)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human

Related Diseases

Diseases	Alias
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Retinitis Pigmentosa 62	RP62 Retinitis Pigmentosa, Type 62
Myopathy, X-Linked, With Excessive Autophagy	X-Linked Myopathy With Excessive Autophagy Xmea MEAX Vacuolar Myopathy
Vici Syndrome	Absent Corpus Callosum Cataract Immunodeficiency VICIS Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum Dionisi Vici Sabetta Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome Dionisi-Vici-Sabetta-Gambarara Syndrome Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Danon Disease	Pseudoglycogenosis Ii Antopol Disease Glycogen Storage Disease Iib Glycogen Storage Disease Type 2b Glycogen Storage Disease Type Iib Gsd2b Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency Vacuolar Cardiomyopathy And Myopathy X-Linked Vacuolar Cardiomyopathy And Myopathy, X-Linked Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly Gsd2b, Formerly Gsd Iib, Formerly Glycogen Storage Cardiomyopathy Glycogen Storage Disease Limited To The Heart Pseudoglycogenosis 2 X-Linked Vacuolar Cardiomyopathy And Myopathy Lysosomal Glycogen Storage Disease With Normal Acid Maltase Glycogen Storage Disease Due To Lamp-2 Deficiency Gsd Due To Lamp-2 Deficiency Glycogenosis Due To Lamp-2 Deficiency Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity DAND Gsd-Iib
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10539	PIK3R4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIK3R4	RGD	RGD:1311809
Mus musculus	PIK3R4	MGD	MGI:1922919
Bos taurus	PIK3R4	VGNC	VGNC:32895
Felis catus	PIK3R4	VGNC	VGNC:68859
Canis familiaris	PIK3R4	VGNC	VGNC:44561
Macaca mulatta	PIK3R4	VGNC	VGNC:84060
Others	PIK3R4	NCBI