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PIK3R5 Gene

protein-coding   GIFtS: 62
GCID: GC17M008724

Phosphoinositide-3-Kinase, Regulatory Subunit 5

  See PIK3R5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphoinositide-3-Kinase, Regulatory Subunit 51 2     FOAP-22
Phosphatidylinositol 4,5-Bisphosphate 3-Kinase Regulatory Subunit2 3     P101-PI3K2
Protein FOAP-22 3     Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Regulatory Subunit2
PtdIns-3-Kinase P1012 3     Phosphoinositide 3-Kinase Regulatory Subunit 52
PI3-Kinase P101 Subunit2 3     p101-PI3K3
p1012 5     PI3-Kinase Regulatory Subunit 53
F730038I15Rik2     PtdIns-3-Kinase Regulatory Subunit3

External Ids:    HGNC: 300351   Entrez Gene: 235332   Ensembl: ENSG000001415067   OMIM: 6113175   UniProtKB: Q8WYR13   
ORGUL members:         

Export aliases for PIK3R5 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 autosomal recessive 1. GO annotations related to this gene include 1-phosphatidylinositol-3-kinase regulator activity and G-protein beta/gamma-subunit complex binding. An important paralog of this gene is PIK3R6.

UniProtKB/Swiss-Prot: PI3R5_HUMAN, Q8WYR1
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)

summary for PIK3R5 Gene:
PI 3-Kinases (phosphoinositide 3-kinases, PI3Ks) are 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, cell survival, degranulation, vesicular trafficking and cell
migration. The PI 3-kinases are grouped into three distinct classes. Class I PI 3-kinases are heteromeric
consisting of a regulatory subunit and a 110 kDA catalytic subunits (3 forms in class 1A : alpha-, beta- and
delta- and one in class 1B : gamma-). PI 3-kinases p110 alpha- and beta- are ubiquitously expressed whilst
p110 delta- expression is associated with leukocytes. Activating mutations in the p110alpha- subunit have
recently been discovered in certain types of cancer cell. Class II PI 3-kinases are large homomeric enzymes
(C2alpha-, beta- and gamma-) that are sensitive to wortmannin (although less sensitive than Class 1 PI
3-kinases) but are resistant to LY 292002. Class III contains just one member, hVps34p, which is thought to
play an important role in both protein sorting and nutrient sensing in concert with the mTOR pathway.

Gene Wiki entry for PIK3R5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIK3R5 gene promoter:
         Elk-1   AML1a   Tal-1   AP-4   Tal-1beta   E47   PPAR-alpha   ZIC2/Zic2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PIK3R5 promoter sequence
   Search Chromatin IP Primers for PIK3R5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIK3R5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

PIK3R5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIK3R5 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M008724:  view genomic region     (about GC identifiers)

Start:
8,782,233 bp from pter      End:
8,869,029 bp from pter
Size:
86,797 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PI3R5_HUMAN, Q8WYR1 (See protein sequence)
Recommended Name: Phosphoinositide 3-kinase regulatory subunit 5  
Size: 880 amino acids; 97348 Da
Subunit: Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with
beta-gamma G protein dimers
Secondary accessions: B0LPH4 D3DTS3 Q5G936 Q5G938 Q5G939 Q8IZ23 Q9Y2Y2
Alternative splicing: 2 isoforms:  Q8WYR1-1   Q8WYR1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIK3R5: NX_Q8WYR1

Explore proteomics data for PIK3R5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys429
  • Modification sites at PhosphoSitePlus

  • See PIK3R5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001136105.1  NP_001238780.1  NP_001238781.1  NP_001238782.1  NP_001238784.1  NP_055123.2  

    ENSEMBL proteins: 
     ENSP00000269300   ENSP00000462433   ENSP00000462824   ENSP00000462680   ENSP00000461966  
     ENSP00000392812  
    Reactome Protein details: Q8WYR1

    PIK3R5 Human Recombinant Protein Products:

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    Novus Biologicals PIK3R5 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIK3R5

     
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    antibodies-online proteins for PIK3R5 

     
    antibodies-online peptides for PIK3R5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019522 PI3K_1B_gamma_p101_su

    Graphical View of Domain Structure for InterPro Entry Q8WYR1

    ProtoNet protein and cluster: Q8WYR1

    UniProtKB/Swiss-Prot: PI3R5_HUMAN, Q8WYR1
    Domain: The heterodimerization region allows the binding to the catalytic subunit


    Find genes that share domains with PIK3R5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PI3R5_HUMAN, Q8WYR1
    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)
    Enzyme regulation: Greatly activated by G gamma proteins (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031683G-protein beta/gamma-subunit complex binding ISS--
    GO:00469351-phosphatidylinositol-3-kinase regulator activity IEA--
         
    Find genes that share ontologies with PIK3R5           About GenesLikeMe


    Phenotypes:
         7 GenomeRNAi human phenotypes for PIK3R5:
     Decreased cilium length after   Decreased focal adhesion (FA)   Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 
     Gemcitabine induced cell-death  Increased circadian period len  Weaker migration 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pik3r5):
     cellular  hematopoietic system  immune system 

    Find genes that share phenotypes with PIK3R5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Pik3r5tm1Lste for PIK3R5

       genOway: Develop your customized and physiologically relevant rodent model for PIK3R5

    miRNA
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    hsa-miR-516b hsa-miR-514 hsa-miR-514b-3p hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIK3R5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PIK3R5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): PIK3R5 (NM_001142633)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIK3R5
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    Addgene plasmids for PIK3R5 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PI3R5_HUMAN, Q8WYR1: Nucleus (By similarity). Cytoplasm (By similarity). Membrane; Peripheral membrane protein
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus3
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005942phosphatidylinositol 3-kinase complex ----
    GO:00059441-phosphatidylinositol-4-phosphate 3-kinase, class IB complex ISS--

    Find genes that share ontologies with PIK3R5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PIK3R5 About   (see all 67)  
    See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Toll-like receptor signaling pathway
    Toll-like receptor signaling pathway0.94
    Chagas disease (American trypanosomiasis)0.32
    Toll-like receptor signaling pathway0.94
    Hepatitis B0.31
    Regulation of toll-like receptor signaling pathway0.93
    3PI Metabolism
    PI Metabolism0.65
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the plasma membrane0.65
    4Focal adhesion
    Focal adhesion0.65
    Focal Adhesion0.65
    5Inositol phosphate metabolism (KEGG)
    Phosphatidylinositol signaling system0.61
    superpathway of inositol phosphate compounds0.60


    Find genes that share SuperPaths with PIK3R5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PIK3R5 (see all 128)
        UVB-Induced MAPK Signaling
    Fc-GammaR Pathway
    Toll-Like Receptors Pathway
    Molecular Mechanisms of Cancer
    eIF2 Pathway

    1 Cell Signaling Technology (CST) Pathway for PIK3R5
        PI3K / Akt Signaling

    Selected Tocris Bioscience Pathways for PIK3R5 (see all 9)
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    Toll-like Receptor Pathway

    Selected GeneGo (Thomson Reuters) Pathways for PIK3R5 (see all 11)
        G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions
    Development A3 receptor signaling
    Development EDNRB signaling
    Inhibitory action of Lipoxins on neutrophil migration

    Selected BioSystems Pathways for PIK3R5 (see all 8)
        Focal Adhesion
    ErbB signaling pathway
    Type II diabetes mellitus
    Toll-like receptor signaling pathway
    Regulation of Actin Cytoskeleton

    3 Reactome Pathways for PIK3R5
        Synthesis of PIPs at the plasma membrane
    GPVI-mediated activation cascade
    G beta:gamma signalling through PI3Kgamma

    2 PharmGKB Pathways for PIK3R5
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PIK3R5) (see all 61):
        ErbB signaling pathway
    Ras signaling pathway
    Rap1 signaling pathway
    Chemokine signaling pathway
    HIF-1 signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Array including PIK3R5: 
              VEGF Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PIK3R5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PIK3R5 (Q8WYR13 ENSP000002693004) via UniProtKB, MINT, STRING, and/or I2D (see all 166)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDHBP219123, ENSP000003646494I2D: score=2 STRING: ENSP00000364649
    ADAMTS2O954503, ENSP000002515824I2D: score=1 STRING: ENSP00000251582
    PIK3CGP487363, ENSP000003521214I2D: score=3 STRING: ENSP00000352121
    CYP4A11Q029283, ENSP000003110954I2D: score=1 STRING: ENSP00000311095
    TTRP027663, ENSP000002370144I2D: score=1 STRING: ENSP00000237014
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006661phosphatidylinositol biosynthetic process TAS--
    GO:0007186G-protein coupled receptor signaling pathway ISS--
    GO:0007596blood coagulation TAS--
    GO:0008219cell death IEA--

    Find genes that share ontologies with PIK3R5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for PIK3R5 (see all 28)     About this table
    CompoundAction CAS #
    A66highly specific and selective p110alpha inhibitor[1166227-08-2]
    AS-605240Potent and selective inhibitor of PI 3-kinase beta.[648450-29-7]http://www.apexbt.com/search.php?catalog=A5176
    AZD6482Potent and selective inhibitor of PI 3-kinase beta[1173900-33-8]
    BEZ235 (NVP-BEZ235)imidazoquinoline derivative inhibiting both PI3K and mTOR kinases[915019-65-7]
    BKM120small-molecule inhibitor of pan-Class I PI3K[944396-07-0]
    BYL-719selective PI3Kalfa inhibitor[1217486-61-7]
    CAL-101 (Idelalisib, GS-1101)p110delta selective PI3K inhibitor[870281-82-6]
    CAL-130novel PI3K inhibitor. [1431697-74-3]
    CUDC-907dual PI3K and HDAC inhibitor[1339928-25-4]
    CZC24832selective inhibitor of PI3Kgamma[1159824-67-5]

    Compounds for PIK3R5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CZC 24832Selective inhibitor of PI 3-Kinase gamma[1159824-67-5]
    QuercetinNon-selective PI 3-kinase inhibitor[117-39-5]
    PI 103 hydrochloride Inhibitor of PI 3-kinase, mTOR and DNA-PK [371935-74-9]
    AS 605240Potent and selective PI 3-kinase gamma (PI3Kgamma) inhibitor[648450-29-7]
    740 Y-PCell-permeable PI 3-kinase activator[1236188-16-1]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PIK3R5 gene (6 alternative transcripts): 
    NM_001142633.2  NM_001251851.1  NM_001251852.1  NM_001251853.1  NM_001251855.1  NM_014308.3  

    Unigene Cluster for PIK3R5:

    Phosphoinositide-3-kinase, regulatory subunit 5
    Hs.278901  [show with all ESTs]
    Unigene Representative Sequence: NM_001251851
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269300 ENST00000581552 ENST00000585260 ENST00000583810 ENST00000584803
    ENST00000578515 ENST00000578743 ENST00000577214 ENST00000583039 ENST00000584456
    ENST00000578457 ENST00000580959 ENST00000583812 ENST00000577981 ENST00000581895
    ENST00000583222 ENST00000447110(uc002glt.3 uc010vuz.2 uc021tqc.1 uc010cob.2 uc010coa.2 uc002glu.4)

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    SwitchGear 3'UTR luciferase reporter plasmidPIK3R5 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 2): PIK3R5 (NM_001142633)
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      QuantiFast Probe-based Assays in human, mouse, rat PIK3R5

    Additional mRNA sequence: 

    AB028925.1 AF128881.1 AK309074.1 AY725851.1 AY725852.1 AY725853.1 AY725854.1 BC028212.1 

    8 DOTS entries:

    DT.40228263  DT.413468  DT.120915088  DT.91916131  DT.120915086  DT.97809619  DT.97826869  DT.99959317 

    Selected AceView cDNA sequences (see all 94):

    AF128881 BX415964 BG231785 AI224130 CD743007 NM_014308 AI299749 AI298753 
    CD370815 AB028925 AW188135 BE219115 CD742744 BG236366 CB045516 BU859135 
    AA868047 AW572143 BU626695 BE042519 BQ706151 BQ012026 BC028212 AA487061 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIK3R5 (see all 9)    About this scheme

    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:                                                                                                              -                                             


    ECgene alternative splicing isoforms for PIK3R5

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PIK3R5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATAACCAG
    PIK3R5 Expression
    About this image


    PIK3R5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     NULL (Uncategorized)
             Definitive endoderm-like cells
     
     Bone (Muscoskeletal System)
             Bone Marrow
    PIK3R5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIK3R5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.278901

    UniProtKB/Swiss-Prot: PI3R5_HUMAN, Q8WYR1
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including PIK3R5: 
              VEGF Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for PIK3R5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pik3r51 , 5 phosphoinositide-3-kinase, regulatory subunit 5, p1 more1, 5 84.69(n)1
    86.68(a)1
      11 (41.69 cM)5
    3202071  NM_177320.21  NP_796294.21 
     684321215 
    chicken
    (Gallus gallus)
    Aves PIK3R51 phosphoinositide 3-kinase regulatory subunit 5 68(n)
    65.33(a)
      417319  NM_001030697.1  NP_001025868.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIK3R56
    phosphoinositide-3-kinase, regulatory subunit 5
    60(a)
    1 ↔ 1
    2(105263903-105304192)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.23612 Xenopus laevis transcribed sequence with weak similarity more 77.21(n)    BQ399922.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pik3r51 phosphoinositide-3-kinase, regulatory subunit 5 53.76(n)
    49.17(a)
      323588  XM_002662345.2  XP_002662391.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIK3R5 gene
    PIK3R62  

    Find genes that share paralogs with PIK3R5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIK3R5 (see all 1928)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617610681,2,,4
    C,FAtaxia-oculomotor apraxia 3 (AOA3)4 --8779792(-) ACCTGC/TCCCCT 12 P S mis14Minor allele frequency- T:0.01NS NA 4710
    VAR_0362274
    A colorectal cancer sample4--see VAR_0362272 R C mis40--------
    rs1446290731,2
    Cuntested18779790(+) TCAGGG/AGGCAG 12 /P syn11Minor allele frequency- A:0.00NA 4540
    rs617611121,2
    C,F--8687784(-) ACATGG/AGAGGT 6 -- int14Minor allele frequency- A:0.08NS WA 204
    rs617611111,2
    C,F--8687824(-) GGCACG/CGTTAC 6 -- int14Minor allele frequency- C:0.11NS WA 204
    rs617611101,2
    C,F--8687844(-) GGAAGG/TCAGGG 6 -- int13Minor allele frequency- T:0.10NS WA 200
    rs1819478601,2
    --8687863(+) CCGCCA/TCCCCA 6 -- int10--------
    rs1146192971,2
    F--8688005(+) TGGCCT/CCGCCT 6 -- int11Minor allele frequency- C:0.07WA 118
    rs1863799471,2
    --8688066(+) CCCCAG/TGGCCC 6 -- int10--------
    rs718479751,2
    C--8700503(+) TGTAT-/TGGTGTG 6 -- int10--------

    HapMap Linkage Disequilibrium report for PIK3R5 (8782233 - 8869029 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for PIK3R5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658276CNV Deletion23128226
    esv2715622CNV Deletion23290073
    esv2715621CNV Deletion23290073
    esv2282824CNV Deletion18987734
    esv2715623CNV Deletion23290073
    nsv833354CNV Loss17160897
    nsv1970CNV Loss18451855
    nsv510696CNV Loss20534489
    nsv827881CNV Loss20364138
    esv259863OTHER Complex20981092

    Human Gene Mutation Database (HGMD): PIK3R5
    1 Site Specific Mutation Identification with PCR Assay for PIK3R5:
    Cosmic IdAA Change
    33390p.R28C
    2 Site Specific Cancer Mutation PCR Panels containing PIK3R5:
    PI3K-PTEN Pathway
    Cancer Comprehensive Panel 384HT
    SeqTarget long-range PCR primers for resequencing PIK3R5
    DNA2.0 Custom Variant and Variant Library Synthesis for PIK3R5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611317   
    OMIM disorders: 615217  
    UniProtKB/Swiss-Prot: PI3R5_HUMAN, Q8WYR1
  • Ataxia-oculomotor apraxia 3 (AOA3) [MIM:615217]: An autosomal recessive disease characterized by
    cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 4 diseases for PIK3R5:    
    About MalaCards
    ataxia-oculomotor apraxia 3    spinocerebellar ataxia autosomal recessive 1    apraxia    doid:4019

    2 diseases from the University of Copenhagen DISEASES database for PIK3R5:
    Apraxia     DOID:4019

    Find genes that share disorders with PIK3R5           About GenesLikeMe

    Genetic Association Database (GAD): PIK3R5
    Human Genome Epidemiology (HuGE) Navigator: PIK3R5 (5 documents)

    Export disorders for PIK3R5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PIK3R5 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with PIK3R5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. (PubMed id 22065524)1, 2 Tassan N.A.... Bohlega S. (Hum. Mutat. 2012)
    2. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PubMed id 20056178)1, 4 Segat L....Crovella S. (Vaccine 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    5. p84, a new Gbetagamma-activated regulatory subunit of the type IB phosphoinositide 3-kinase p110gamma. (PubMed id 15797027)1, 2 Suire S....Stephens L. (Curr. Biol. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Roles of G beta gamma in membrane recruitment and activation of p110 gamma/p101 phosphoinositide 3-kinase gamma. (PubMed id 12507995)1, 3 Brock C....NA1rnberg B. (J. Cell Biol. 2003)
    8. p87 and p101 subunits are distinct regulators determining class IB phosphoinositide 3-kinase (PI3K) specificity. (PubMed id 24014027)1 Shymanets A....NA1rnberg B. (J. Biol. Chem. 2013)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23533 HGNC: 30035 AceView: P101-PI3K Ensembl:ENSG00000141506 euGenes: HUgn23533
    ECgene: PIK3R5 Kegg: 23533 H-InvDB: PIK3R5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PIK3R5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PIK3R5 gene:
    Search GeneIP for patents involving PIK3R5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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