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Aliases for PIK3R5 Gene

Aliases for PIK3R5 Gene

  • Phosphoinositide-3-Kinase Regulatory Subunit 5 2 3 5
  • Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Regulatory Subunit 3 4
  • PI3-Kinase P101 Subunit 3 4
  • PtdIns-3-Kinase P101 3 4
  • Protein FOAP-2 3 4
  • P101-PI3K 3 4
  • Phosphoinositide-3-Kinase, Regulatory Subunit 5 2
  • Phosphoinositide 3-Kinase Regulatory Subunit 5 3
  • PtdIns-3-Kinase Regulatory Subunit 4
  • PI3-Kinase Regulatory Subunit 5 4
  • F730038I15Rik 3
  • FOAP-2 3
  • P101 3

External Ids for PIK3R5 Gene

Previous GeneCards Identifiers for PIK3R5 Gene

  • GC17M008724

Summaries for PIK3R5 Gene

Entrez Gene Summary for PIK3R5 Gene

  • Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]

GeneCards Summary for PIK3R5 Gene

PIK3R5 (Phosphoinositide-3-Kinase Regulatory Subunit 5) is a Protein Coding gene. Diseases associated with PIK3R5 include Ataxia-Oculomotor Apraxia 3 and Spinocerebellar Ataxia With Axonal Neuropathy Type 2. Among its related pathways are Signaling by GPCR and IL-2 Pathway. GO annotations related to this gene include G-protein beta/gamma-subunit complex binding and 1-phosphatidylinositol-3-kinase regulator activity. An important paralog of this gene is PIK3R6.

UniProtKB/Swiss-Prot for PIK3R5 Gene

  • Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).

Tocris Summary for PIK3R5 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 PIK3R5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIK3R5 Gene

Genomics for PIK3R5 Gene

Regulatory Elements for PIK3R5 Gene

Enhancers for PIK3R5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F008944 1.2 FANTOM5 Ensembl ENCODE 71 +20.1 20133 2.5 PKNOX1 ZNF146 SMAD5 MTA2 TRIM22 MNT TBX21 IKZF1 TARDBP NBN PIK3R5 ENSG00000266389 GC17M008877
GH17F008920 0.3 FANTOM5 57.3 +44.8 44760 0.4 HDGF JUND TBL1XR1 ZBED1 STAT3 BMI1 RELA PIK3R5 NDEL1 GC17M008877
GH17F008951 0.9 FANTOM5 Ensembl ENCODE 40.4 +8.9 8860 11.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 BMI1 YBX1 ZBTB40 CBX5 ZNF143 PIK3R5 SPDYE4 GC17M008877
GH17F008921 0.9 FANTOM5 Ensembl ENCODE 35.8 +42.2 42241 3.2 HDGF ESRRA ZNF146 TBL1XR1 RELA GATA3 ZNF366 POLR2A GATA2 CREM PIK3R5 RNF222 NDEL1 GC17M008877
GH17F008933 1.2 FANTOM5 Ensembl ENCODE 27.3 +30.6 30641 2.3 SRF ZBED1 JUNB USF2 REST ZNF48 RELA SREBF1 ZFHX2 RAD51 PIK3R5 SPDYE4 NTN1 NDEL1 GC17M008877
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PIK3R5 on UCSC Golden Path with GeneCards custom track

Promoters for PIK3R5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001340614 312 2001 PKNOX1 WRNIP1 GLIS2 ZNF143 ETV6 CREM SP3 SMAD5 CBFB JUNB

Genomic Location for PIK3R5 Gene

Chromosome:
17
Start:
8,878,911 bp from pter
End:
8,965,712 bp from pter
Size:
86,802 bases
Orientation:
Minus strand

Genomic View for PIK3R5 Gene

Genes around PIK3R5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIK3R5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIK3R5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIK3R5 Gene

Proteins for PIK3R5 Gene

  • Protein details for PIK3R5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WYR1-PI3R5_HUMAN
    Recommended name:
    Phosphoinositide 3-kinase regulatory subunit 5
    Protein Accession:
    Q8WYR1
    Secondary Accessions:
    • B0LPH4
    • D3DTS3
    • Q5G936
    • Q5G938
    • Q5G939
    • Q8IZ23
    • Q9Y2Y2

    Protein attributes for PIK3R5 Gene

    Size:
    880 amino acids
    Molecular mass:
    97348 Da
    Quaternary structure:
    • Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers.

    Alternative splice isoforms for PIK3R5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIK3R5 Gene

Post-translational modifications for PIK3R5 Gene

  • Ubiquitination at Lys 429
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIK3R5 (PIK3R5)

No data available for DME Specific Peptides for PIK3R5 Gene

Domains & Families for PIK3R5 Gene

Protein Domains for PIK3R5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIK3R5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WYR1

UniProtKB/Swiss-Prot:

PI3R5_HUMAN :
  • The heterodimerization region allows the binding to the catalytic subunit.
Domain:
  • The heterodimerization region allows the binding to the catalytic subunit.
genes like me logo Genes that share domains with PIK3R5: view

No data available for Gene Families for PIK3R5 Gene

Function for PIK3R5 Gene

Molecular function for PIK3R5 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Greatly activated by G gamma proteins.
UniProtKB/Swiss-Prot Function:
Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity).

Gene Ontology (GO) - Molecular Function for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016301 kinase activity IEA --
GO:0031683 G-protein beta/gamma-subunit complex binding ISS --
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS --
GO:0046935 1-phosphatidylinositol-3-kinase regulator activity IBA --
genes like me logo Genes that share ontologies with PIK3R5: view
genes like me logo Genes that share phenotypes with PIK3R5: view

Human Phenotype Ontology for PIK3R5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIK3R5 Gene

MGI Knock Outs for PIK3R5:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PIK3R5 Gene

Localization for PIK3R5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIK3R5 Gene

Nucleus. Cytoplasm. Cell membrane; Peripheral membrane protein. Note=Predominantly localized in the nucleus in absence of PIK3CG/p120. Colocalizes with PIK3CG/p120 in the cytoplasm. Translocated to the plasma membrane in a beta-gamma G protein-dependent manner. {ECO:0000250 UniProtKB:O02696}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIK3R5 Gene COMPARTMENTS Subcellular localization image for PIK3R5 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005942 phosphatidylinositol 3-kinase complex IBA --
genes like me logo Genes that share ontologies with PIK3R5: view

Pathways & Interactions for PIK3R5 Gene

genes like me logo Genes that share pathways with PIK3R5: view

Gene Ontology (GO) - Biological Process for PIK3R5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007186 G-protein coupled receptor signaling pathway ISS,IBA --
GO:0014065 phosphatidylinositol 3-kinase signaling ISS,IBA --
GO:0016310 phosphorylation IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with PIK3R5: view

No data available for SIGNOR curated interactions for PIK3R5 Gene

Drugs & Compounds for PIK3R5 Gene

(36) Drugs for PIK3R5 Gene - From: ApexBio, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
3-Methyladenine Experimental Pharma Class III PI3K inhibitor, Class III PI 3-kinase inhibitor; also inhibits autophagy 0
XL147 Investigational Pharma inhibitor PI3K inhibitor,selective and reversible, Kinase Inhibitors, Phosphatidylinositol-3- kinase (PI-3K) inhibitors 0
SF1126 Investigational Pharma inhibitor Kinase Inhibitors 0
GSK2636771 Pharma inhibitor PIK3 inhibitor, Kinase Inhibitors 0
A66 Pharma P110α inhibitor 0

(1) Additional Compounds for PIK3R5 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LY 294002 hydrochloride
934389-88-5

(5) Tocris Compounds for PIK3R5 Gene

Compound Action Cas Number
3-Methyladenine Class III PI 3-kinase inhibitor; also inhibits autophagy 5142-23-4
740 Y-P Cell-permeable PI 3-kinase activator 1236188-16-1
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
PI 828 PI 3-kinase inhibitor, more potent than LY 294002 (Cat. No. 1130) 942289-87-4

(13) ApexBio Compounds for PIK3R5 Gene

Compound Action Cas Number
A66 P110α inhibitor 1166227-08-2
AS-605240 Potent and selective PI 3-Kγ inhibitor 648450-29-7
BEZ235 Tosylate MTOR/P13K inhibitor 1028385-32-1
GSK2636771 PIK3 inhibitor 1372540-25-4
HS-173 1276110-06-5
IC-87114 PI3Kδ inhibitor 371242-69-2
IPI-145 (INK1197) PI3K-δ/PI3K-γ inhibitor 1201438-56-3
PI-3065 P110δkinase inhibitor 955977-50-1
SAR245409 (XL765) mTOR/PI3K inhibitor 1349796-36-6
TG100-115 PI3Kγ/PI3Kδ inhibitor 677297-51-7
TG100713 925705-73-3
Wortmannin PI3K inhibitor,selective and irreversible 19545-26-7
XL147 PI3K inhibitor,selective and reversible 956958-53-5
genes like me logo Genes that share compounds with PIK3R5: view

Transcripts for PIK3R5 Gene

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20a · 20b · 20c
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:

Relevant External Links for PIK3R5 Gene

GeneLoc Exon Structure for
PIK3R5
ECgene alternative splicing isoforms for
PIK3R5

Expression for PIK3R5 Gene

mRNA expression in normal human tissues for PIK3R5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIK3R5 Gene

This gene is overexpressed in Whole Blood (x22.8) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for PIK3R5 Gene

This gene is overexpressed in Heart (45.3) and CD8 Tcells (23.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PIK3R5 Gene



Protein tissue co-expression partners for PIK3R5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIK3R5 Gene:

PIK3R5

SOURCE GeneReport for Unigene cluster for PIK3R5 Gene:

Hs.278901

mRNA Expression by UniProt/SwissProt for PIK3R5 Gene:

Q8WYR1-PI3R5_HUMAN
Tissue specificity: Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli.
genes like me logo Genes that share expression patterns with PIK3R5: view

Primer Products

Orthologs for PIK3R5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIK3R5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIK3R5 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia PIK3R5 34 35
  • 88.52 (n)
cow
(Bos Taurus)
Mammalia PIK3R5 34 35
  • 87.1 (n)
rat
(Rattus norvegicus)
Mammalia Pik3r5 34
  • 84.75 (n)
mouse
(Mus musculus)
Mammalia Pik3r5 34 16 35
  • 84.69 (n)
oppossum
(Monodelphis domestica)
Mammalia PIK3R5 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIK3R5 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIK3R5 34 35
  • 68 (n)
-- 35
  • 60 (a)
OneToMany
-- 35
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia PIK3R5 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pik3r5 34
  • 60.9 (n)
Str.19584 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2361 34
zebrafish
(Danio rerio)
Actinopterygii pik3r5 34 35
  • 53.76 (n)
Species where no ortholog for PIK3R5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PIK3R5 Gene

ENSEMBL:
Gene Tree for PIK3R5 (if available)
TreeFam:
Gene Tree for PIK3R5 (if available)

Paralogs for PIK3R5 Gene

Paralogs for PIK3R5 Gene

genes like me logo Genes that share paralogs with PIK3R5: view

Variants for PIK3R5 Gene

Sequence variations from dbSNP and Humsavar for PIK3R5 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs371789171 A colorectal cancer sample 8,911,413(+) GCGGC(A/G)GCTGA intron-variant, reference, missense, utr-variant-5-prime
rs61761068 Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217], Pathogenic 8,887,116(-) ACCTG(C/T)CCCCT reference, missense
rs758111706 Likely benign 8,888,215(+) CGATC(A/G)GAGCC reference, synonymous-codon
rs62620227 Uncertain significance 8,880,725(+) AGGAG(A/G)CGTCT reference, missense
rs797045887 Uncertain significance 8,890,812(-) ACACC(A/G)CCCTG intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PIK3R5 Gene

Variant ID Type Subtype PubMed ID
dgv3096n100 CNV gain 25217958
esv2282824 CNV deletion 18987734
esv2658276 CNV deletion 23128226
esv2715621 CNV deletion 23290073
esv2715622 CNV deletion 23290073
esv2715623 CNV deletion 23290073
esv3302889 CNV tandem duplication 20981092
nsv1129589 CNV tandem duplication 24896259
nsv1160448 CNV duplication 26073780
nsv1970 CNV deletion 18451855
nsv510696 CNV deletion 20534489
nsv827881 CNV loss 20364138
nsv833354 CNV loss 17160897

Variation tolerance for PIK3R5 Gene

Residual Variation Intolerance Score: 59.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIK3R5 Gene

Human Gene Mutation Database (HGMD)
PIK3R5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIK3R5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIK3R5 Gene

Disorders for PIK3R5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PIK3R5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ataxia-oculomotor apraxia 3
  • cerebellar ataxia
spinocerebellar ataxia with axonal neuropathy type 2
  • aoa2
apraxia
  • dyspraxia
spinocerebellar ataxia, autosomal recessive 1
  • ataxia with oculomotor apraxia type 2
supraglottis cancer
  • ca larynx - supraglottis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PI3R5_HUMAN
  • Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. {ECO:0000269 PubMed:22065524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIK3R5

Genetic Association Database (GAD)
PIK3R5
Human Genome Epidemiology (HuGE) Navigator
PIK3R5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIK3R5
genes like me logo Genes that share disorders with PIK3R5: view

No data available for Genatlas for PIK3R5 Gene

Publications for PIK3R5 Gene

  1. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. (PMID: 22065524) Tassan N.A. … Bohlega S. (Hum. Mutat. 2012) 3 4 64
  2. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L. … Crovella S. (Vaccine 2010) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
  5. p84, a new Gbetagamma-activated regulatory subunit of the type IB phosphoinositide 3-kinase p110gamma. (PMID: 15797027) Suire S. … Stephens L. (Curr. Biol. 2005) 3 4 64

Products for PIK3R5 Gene

Sources for PIK3R5 Gene

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