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Aliases for PIK3R4 Gene

Aliases for PIK3R4 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 4 2 3 5
  • Phosphoinositide 3-Kinase Adaptor Protein 3 4
  • PI3-Kinase Regulatory Subunit 4 3 4
  • PI3-Kinase P150 Subunit 3 4
  • EC 2.7.11.1 4 56
  • VPS15 3 4
  • Phosphoinositide-3-Kinase, Regulatory Subunit 4, P150 3
  • Phosphoinositide-3-Kinase, Regulatory Subunit 4 2
  • Phosphoinositide 3-Kinase Regulatory Subunit 4 3
  • Phosphatidylinositol 3-Kinase-Associated P150 3
  • P150 3

External Ids for PIK3R4 Gene

Previous GeneCards Identifiers for PIK3R4 Gene

  • GC03P127093
  • GC03M131114
  • GC03M131679
  • GC03M131718
  • GC03M131630
  • GC03M131880
  • GC03M130397
  • GC03M127782

Summaries for PIK3R4 Gene

GeneCards Summary for PIK3R4 Gene

PIK3R4 (Phosphoinositide-3-Kinase Regulatory Subunit 4) is a Protein Coding gene. Diseases associated with PIK3R4 include Danon Disease. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and NFAT and Cardiac Hypertrophy. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and binding.

UniProtKB/Swiss-Prot for PIK3R4 Gene

  • Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123).

Tocris Summary for PIK3R4 Gene

  • PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.

Gene Wiki entry for PIK3R4 Gene

Additional gene information for PIK3R4 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R4 Gene

Genomics for PIK3R4 Gene

GeneHancer (GH) Regulatory Elements for PIK3R4 Gene

Promoters and enhancers for PIK3R4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I130745 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 580.1 -0.3 -255 3.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B ZNF766 PIK3R4 ASTE1 RN7SKP212
GH03I130746 Enhancer 0.2 Ensembl 550.8 +1.8 1751 0.2 PIK3R4 GC03P130677
GH03I131380 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 20.4 -634.7 -634669 2.6 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ZNF48 YY1 POLR2B NUDT16 LOC339874 PIK3R4 ATP2C1 MRPL3 ASTE1
GH03I131501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14 -755.8 -755763 2.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MRPL3 LOC105374114 PIK3R4 ENSG00000261167 DNAJC13
GH03I130657 Enhancer 1 Ensembl ENCODE 17.6 +86.3 86269 5.7 PKNOX1 FEZF1 ZNF2 ZNF366 SCRT2 FOS ZNF680 OVOL3 TSHZ1 ZEB2 PIK3R4 GC03P130677 GC03P130602 COL6A6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIK3R4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIK3R4 gene promoter:

Genomic Locations for PIK3R4 Gene

Genomic Locations for PIK3R4 Gene
chr3:130,678,934-130,746,852
(GRCh38/hg38)
Size:
67,919 bases
Orientation:
Minus strand
chr3:130,397,778-130,465,696
(GRCh37/hg19)

Genomic View for PIK3R4 Gene

Genes around PIK3R4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3R4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3R4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R4 Gene

Proteins for PIK3R4 Gene

  • Protein details for PIK3R4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99570-PI3R4_HUMAN
    Recommended name:
    Phosphoinositide 3-kinase regulatory subunit 4
    Protein Accession:
    Q99570
    Secondary Accessions:
    • Q2TBF4

    Protein attributes for PIK3R4 Gene

    Size:
    1358 amino acids
    Molecular mass:
    153103 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex the core of which is composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 associating with additional regulatory/auxilliary subunits to form alternative complex forms. Alternative complex forms containing a forth regulatory subunit in a mutually exclusive manner are PI3K complex I (PI3KC3-C1) containing ATG14, and PI3K complex II (PI3KC3-C2) containing UVRAG (PubMed:8999962, PubMed:19270696, PubMed:23878393, PubMed:25490155). PI3KC3-C1 displays a V-shaped architecture with PIK3R4 serving as a bridge between PIK3C3 and the ATG14:BECN1 subcomplex (PubMed:25490155). Both, PI3KC3-C1 and PI3KC3-C2, can associate with further regulatory subunits, such as RUBCN, SH3GLB1/Bif-1, AMBRA1 and NRBF2 (PubMed:19270696, PubMed:20643123, PubMed:24785657). PI3KC3-C1 probably associates with PIK3CB (By similarity). Interacts with RAB7A in the presence of PIK3C3/VPS34 (PubMed:14617358). Interacts with NRBF2 (PubMed:24785657).

neXtProt entry for PIK3R4 Gene

Selected DME Specific Peptides for PIK3R4 Gene

Q99570:
  • NLYDRISTRPFL
  • SILTYSR
  • KKPVIPV
  • YLPEDNP
  • DYLKQQRGNAFPE
  • RWIAFQILTAVDQAHK
  • RLCVFFGRQK
  • DSKLAALELILHLAPRL
  • RRTCYIAPERF

Post-translational modifications for PIK3R4 Gene

Other Protein References for PIK3R4 Gene

Domains & Families for PIK3R4 Gene

Gene Families for PIK3R4 Gene

Suggested Antigen Peptide Sequences for PIK3R4 Gene

Graphical View of Domain Structure for InterPro Entry

Q99570

UniProtKB/Swiss-Prot:

PI3R4_HUMAN :
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.
genes like me logo Genes that share domains with PIK3R4: view

Function for PIK3R4 Gene

Molecular function for PIK3R4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Regulatory subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and cytokinesis, probably in the context of PI3KC3-C2 (PubMed:20643123).

Enzyme Numbers (IUBMB) for PIK3R4 Gene

Gene Ontology (GO) - Molecular Function for PIK3R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity NAS 8999962
GO:0004674 protein serine/threonine kinase activity IBA --
GO:0005515 protein binding IPI 14617358
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PIK3R4: view
genes like me logo Genes that share phenotypes with PIK3R4: view

Animal Models for PIK3R4 Gene

MGI Knock Outs for PIK3R4:

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIK3R4 Gene

Localization for PIK3R4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3R4 Gene

Late endosome. Cytoplasmic vesicle, autophagosome. Membrane; Lipid-anchor. Note=As component of the PI3K complex I localized to pre-autophagosome structures. As component of the PI3K complex II localized predominantly to endosomes. Localizes also to discrete punctae along the ciliary axoneme (By similarity). {ECO:0000250 UniProtKB:Q8VD65, ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIK3R4 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
nucleus 4
lysosome 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIK3R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005643 nuclear pore IBA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IDA,IEA 14617358
GO:0005776 autophagosome IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PIK3R4: view

Pathways & Interactions for PIK3R4 Gene

genes like me logo Genes that share pathways with PIK3R4: view

SIGNOR curated interactions for PIK3R4 Gene

Activates:

Gene Ontology (GO) - Biological Process for PIK3R4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation NAS 8999962
GO:0006623 protein targeting to vacuole IBA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016236 macroautophagy TAS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PIK3R4: view

Drugs & Compounds for PIK3R4 Gene

(27) Drugs for PIK3R4 Gene - From: DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist 0
BAY80-6946 Pharma Inhibition, Biomarker, inhibitor PI3K Inhibitors, Kinase Inhibitors 0

(2) Additional Compounds for PIK3R4 Gene - From: Tocris and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
LY 294002 hydrochloride
934389-88-5

(5) Tocris Compounds for PIK3R4 Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
LY 294002 hydrochloride Prototypical PI 3-kinase inhibitor; also inhibits other kinases 934389-88-5
PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK 371935-79-4
Quercetin Non-selective PI 3-kinase inhibitor 117-39-5
Wortmannin Potent, irreversible inhibitor of PI 3-kinase. Also inhibitor of PLK1 19545-26-7
genes like me logo Genes that share compounds with PIK3R4: view

Transcripts for PIK3R4 Gene

Unigene Clusters for PIK3R4 Gene

Phosphoinositide-3-kinase, regulatory subunit 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - -
SP2:
SP3:
SP4: - -
SP5: -
SP6: - - - - -

ExUns: 21 ^ 22 ^ 23
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PIK3R4 Gene

GeneLoc Exon Structure for
PIK3R4
ECgene alternative splicing isoforms for
PIK3R4

Expression for PIK3R4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIK3R4 Gene

Protein differential expression in normal tissues from HIPED for PIK3R4 Gene

This gene is overexpressed in Platelet (11.2), Bone marrow mesenchymal stem cell (9.2), and Lymph node (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIK3R4 Gene



Protein tissue co-expression partners for PIK3R4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIK3R4 Gene:

PIK3R4

SOURCE GeneReport for Unigene cluster for PIK3R4 Gene:

Hs.149032

mRNA Expression by UniProt/SwissProt for PIK3R4 Gene:

Q99570-PI3R4_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for PIK3R4 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with PIK3R4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIK3R4 Gene

Orthologs for PIK3R4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIK3R4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3R4 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia PIK3R4 33 34
  • 93.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3R4 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIK3R4 33 34
  • 88.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3R4 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pik3r4 33
  • 85.78 (n)
mouse
(Mus musculus)
Mammalia Pik3r4 33 16 34
  • 85.71 (n)
chicken
(Gallus gallus)
Aves PIK3R4 33 34
  • 80.73 (n)
lizard
(Anolis carolinensis)
Reptilia PIK3R4 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r4 33
  • 76.57 (n)
Str.13268 33
zebrafish
(Danio rerio)
Actinopterygii pik3r4 33 34
  • 72.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta ird1 33 34
  • 50.5 (n)
CG9746 35
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000602 33
  • 49.51 (n)
worm
(Caenorhabditis elegans)
Secernentea ZK930.1 35
  • 31 (a)
vps-15 34
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS15 33 34 36
  • 44.08 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11924g 33
  • 44.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL316C 33
  • 42.9 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G29380 33
  • 48.51 (n)
rice
(Oryza sativa)
Liliopsida Os02g0796700 33
  • 44.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppk19 33
  • 49.24 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06626 33
  • 46.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for PIK3R4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIK3R4 Gene

ENSEMBL:
Gene Tree for PIK3R4 (if available)
TreeFam:
Gene Tree for PIK3R4 (if available)

Paralogs for PIK3R4 Gene

No data available for Paralogs for PIK3R4 Gene

Variants for PIK3R4 Gene

Sequence variations from dbSNP and Humsavar for PIK3R4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs181132426 A breast cancer sample 130,705,686(-) C/G/T coding_sequence_variant, missense_variant
rs1000021511 -- 130,685,019(-) A/G intron_variant
rs1000101900 -- 130,704,703(-) T/C intron_variant
rs1000128103 -- 130,732,073(-) G/T intron_variant
rs1000165057 -- 130,703,167(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PIK3R4 Gene

Variant ID Type Subtype PubMed ID
esv34166 CNV loss 18971310
nsv1005160 CNV gain 25217958
nsv460855 CNV loss 19166990
nsv509852 OTHER sequence alteration 20534489

Variation tolerance for PIK3R4 Gene

Residual Variation Intolerance Score: 19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.53; 55.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIK3R4 Gene

Human Gene Mutation Database (HGMD)
PIK3R4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3R4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R4 Gene

Disorders for PIK3R4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIK3R4 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
danon disease
  • vacuolar cardiomyopathy and myopathy, x-linked
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PIK3R4

genes like me logo Genes that share disorders with PIK3R4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIK3R4 Gene

Publications for PIK3R4 Gene

  1. Human VPS34 and p150 are Rab7 interacting partners. (PMID: 14617358) Stein MP … Wandinger-Ness A (Traffic (Copenhagen, Denmark) 2003) 3 4 22 58
  2. Characterization of p150, an adaptor protein for the human phosphatidylinositol (PtdIns) 3-kinase. Substrate presentation by phosphatidylinositol transfer protein to the p150.Ptdins 3-kinase complex. (PMID: 8999962) Panaretou C … Waterfield MD (The Journal of biological chemistry 1997) 2 3 4 58
  3. NRBF2 regulates macroautophagy as a component of Vps34 Complex I. (PMID: 24785657) Cao Y … Backer JM (The Biochemical journal 2014) 3 4 58
  4. Role of membrane association and Atg14-dependent phosphorylation in beclin-1-mediated autophagy. (PMID: 23878393) Fogel AI … Youle RJ (Molecular and cellular biology 2013) 3 4 58
  5. A phosphatidylinositol 3-kinase class III sub-complex containing VPS15, VPS34, Beclin 1, UVRAG and BIF-1 regulates cytokinesis and degradative endocytic traffic. (PMID: 20643123) Thoresen SB … Stenmark H (Experimental cell research 2010) 3 4 58

Products for PIK3R4 Gene

Sources for PIK3R4 Gene

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