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PIK3C3 Gene

protein-coding   GIFtS: 72
GCID: GC18P039535

Phosphatidylinositol 3-Kinase, Catalytic Subunit Type 3

(Previous names: phosphoinositide-3-kinase, class 3)
Microbiology & Infectious Diseases Congress
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(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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Aliases
Phosphatidylinositol 3-Kinase, Catalytic Subunit Type 31 2     PI3K Type 32 3
Phosphoinositide-3-Kinase, Class 31 2     PtdIns-3-Kinase Type 32 3
Phosphatidylinositol 3-Kinase P100 Subunit2 3     EC 2.7.1.1373 8
VPS342 3     Phosphatidylinositol 3-Kinase Catalytic Subunit Type 32
hVps342 3     Phosphoinositide-3-Kinase Class 33
PI3-Kinase Type 32 3     EC 2.7.18

External Ids:    HGNC: 89741   Entrez Gene: 52892   Ensembl: ENSG000000781427   OMIM: 6026095   UniProtKB: Q8NEB93   

Export aliases for PIK3C3 gene to outside databases

Previous GC identifers: GC18P039741 GC18P039321 GC18P039423 GC18P037787 GC18P037789 GC18P036394


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PIK3C3 Gene:
PIK3C3 (phosphatidylinositol 3-kinase, catalytic subunit type 3) is a protein-coding gene. Diseases associated with PIK3C3 include centronuclear myopathy, and myopathy. GO annotations related to this gene include 1-phosphatidylinositol-3-kinase activity and protein kinase activity. An important paralog of this gene is PIK3C2B.

UniProtKB/Swiss-Prot: PK3C3_HUMAN, Q8NEB9
Function: Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate which
plays a key role in initiation and maturation of autophagosomes. Involved in the transport of lysosomal enzyme
precursors to lysosomes. Required for the abcission step in cytokinesis. Required for transport from early to
late endosomes

summary for PIK3C3 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 PIK3C3 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:
NC_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIK3C3 gene promoter:
         Bach1   p53   HNF-1A   Evi-1   Gfi-1   GATA-6   HNF-1   Sox9   Ik-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIK3C3 promoter sequence
   Search Chromatin IP Primers for PIK3C3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIK3C3


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

Entrez Gene cytogenetic band: 18q12.3   Ensembl cytogenetic band:  18q12.3   HGNC cytogenetic band: 18q12.3

PIK3C3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIK3C3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P039535:  view genomic region     (about GC identifiers)

Start:
39,535,171 bp from pter      End:
39,667,794 bp from pter
Size:
132,624 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PK3C3_HUMAN, Q8NEB9 (See protein sequence)
Recommended Name: Phosphatidylinositol 3-kinase catalytic subunit type 3  
Size: 887 amino acids; 101549 Da
Cofactor: Manganese
Subunit: Heterodimer. This subunit, part of a complex composed of regulatory and catalytic subunits, associates
with regulatory subunit PIK3R4. Forms a complex with BECN1, PIK3R4 and either UVRAG and KIAA0226/Rubicon, or with
ATG14. In this complex, presence of UVRAG and ATG14 are mutually exclusive. Part of a complex composed of PIK3R4
and PIK3CB (By similarity). Interacts with RAB7A in the presence of PIK3R4. Interacts with BECN1P1/BECN2
2 PDB 3D structures from and Proteopedia for PIK3C3:
3IHY (3D)        3LS8 (3D)    
Secondary accessions: Q15134

Explore the universe of human proteins at neXtProt for PIK3C3: NX_Q8NEB9

Explore proteomics data for PIK3C3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PIK3C3 (Q8NEB9) (see all 25)
     YSCDLDI  LFHIDFG  SCAGYCV  FRYYLTN 


    See PIK3C3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002638.2  
    ENSEMBL proteins: 
     ENSP00000262039   ENSP00000381845   ENSP00000465621   ENSP00000464909   ENSP00000466946  
     ENSP00000471229   ENSP00000471443   ENSP00000472464   ENSP00000472926   ENSP00000471957  
     ENSP00000473061   ENSP00000469362   ENSP00000470524   ENSP00000471498  
    Reactome Protein details: Q8NEB9

    PIK3C3 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for PIK3C3
    OriGene MassSpec for PIK3C3
    OriGene Custom Protein Services for PIK3C3
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    Novus Biologicals PIK3C3 Protein
    Novus Biologicals PIK3C3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PIK3C3

    PIK3C3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PIK3C3
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    Abcam antibodies for PIK3C3
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    ThermoFisher Antibodies for PIK3C3
    LSBio Antibodies in human, mouse, rat for PIK3C3

    PIK3C3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for PIK3C3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PIK3C3
    Cloud-Clone Corp. CLIAs for PIK3C3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: phosphatidylinositol 3-kinase, catalytic subunit type 3
    Phosphatidylinositol 3-kinase family

    Selected InterPro protein domains (see all 9):
     IPR001263 PInositide-3_kin_accessory_dom
     IPR002420 PI3K_C2_dom
     IPR011009 Kinase-like_dom
     IPR008290 PI3K_Vps34
     IPR000403 PI3/4_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q8NEB9

    ProtoNet protein and cluster: Q8NEB9

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB000403 Phosphatidylinositol 3- and 4-kinase


    UniProtKB/Swiss-Prot: PK3C3_HUMAN, Q8NEB9
    Similarity: Belongs to the PI3/PI4-kinase family
    Similarity: Contains 1 C2 PI3K-type domain
    Similarity: Contains 1 PI3K/PI4K domain
    Similarity: Contains 1 PIK helical domain


    PIK3C3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PK3C3_HUMAN, Q8NEB9
    Function: Catalytic subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate which
    plays a key role in initiation and maturation of autophagosomes. Involved in the transport of lysosomal enzyme
    precursors to lysosomes. Required for the abcission step in cytokinesis. Required for transport from early to
    late endosomes
    Catalytic activity: ATP + 1-phosphatidyl-1D-myo-inositol = ADP + 1-phosphatidyl-1D-myo-inositol 3-phosphate

         Enzyme Numbers (IUBMB): EC 2.7.1.1371 2 EC 2.7.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity IEA--
    GO:0005488binding ----
    GO:0005515protein binding IPI14617358
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
         
    PIK3C3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PIK3C3:
     Decreased focal adhesion (FA)   Increased cilium length after   Upregulation of Wnt/beta-caten 

         14 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Pik3c3):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     muscle  nervous system  normal  vision/eye 

    PIK3C3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pik3c3tm1.1Fawa for PIK3C3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIK3C3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PIK3C3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PIK3C3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PIK3C3

    miRNA
    Products:
        
    miRTarBase miRNAs that target PIK3C3:
    hsa-mir-98-5p (MIRT027827), hsa-mir-149-5p (MIRT045507)

    Block miRNA regulation of human, mouse, rat PIK3C3 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PIK3C3:
    hsa-miR-338-5p hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidPIK3C3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PIK3C3
    Predesigned siRNA for gene silencing in human, mouse, rat PIK3C3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PIK3C3

    Clone
    Products:
         
    OriGene clones in human, mouse for PIK3C3 (see all 7)
    OriGene ORF clones in mouse, rat for PIK3C3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PIK3C3 (NM_002647)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PIK3C3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIK3C3

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PIK3C3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIK3C3


    (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
    PK3C3_HUMAN, Q8NEB9: Midbody. Late endosome. Note=Localizes also to discrete punctae along the ciliary axoneme
    and to the base of the ciliary axoneme (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol3
    vacuole3
    lysosome2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005770late endosome IDA14617358
    GO:0005829cytosol TAS--
    GO:0005930axoneme ISS--
    GO:0005942phosphatidylinositol 3-kinase complex IBA--
    GO:0030496midbody IDA--

    PIK3C3 for ontologies           About GeneDecksing


    (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 PIK3C3 About   (see all 26)                                                                                              See pathways by source

    SuperPathContained pathways About
    1PI Metabolism
    PI Metabolism0.65
    Synthesis of PIPs at the Golgi membrane0.00
    3-phosphoinositide biosynthesis0.47
    Synthesis of PIPs at the early endosome membrane0.00
    Synthesis of PIPs at the late endosome membrane0.00
    2Inositol phosphate metabolism (KEGG)
    Inositol phosphate metabolism0.61
    superpathway of inositol phosphate compounds0.60
    Phosphatidylinositol signaling system0.61
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    IRS-related events triggered by IGF1R0.92
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    PI3K Cascade0.87
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.80
    5Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PIK3C3
        ICos-ICosL Pathway in T-Helper Cell
    PI3K Signaling in B-Lymphocyte
    CD28 Signaling in T-Helper Cell

    3 Cell Signaling Technology (CST) Pathways for PIK3C3
        Apoptosis and Autophagy
    PI3K / Akt Signaling
    Glucose / Energy Metabolism

    Selected Tocris Bioscience Pathways for PIK3C3 (see all 9)
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    Toll-like Receptor Pathway

    4 GeneGo (Thomson Reuters) Pathways for PIK3C3
        Normal wtCFTR traffic / Sorting endosome formation
    Delta508-CFTR traffic / Sorting endosome formation in CF
    Transport Clathrin-coated vesicle cycle
    wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

    Selected BioSystems Pathways for PIK3C3 (see all 6)
        Senescence and Autophagy
    Insulin Signaling
    AMPK signaling
    Regulation of Actin Cytoskeleton
    3-phosphoinositide biosynthesis

    5 Reactome Pathways for PIK3C3
        PI3K Cascade
    Toll Like Receptor 9 (TLR9) Cascade
    Synthesis of PIPs at the late endosome membrane
    Synthesis of PIPs at the early endosome membrane
    Synthesis of PIPs at the Golgi membrane


    Selected Kegg Pathways  (Kegg details for PIK3C3) (see all 6):
        Inositol phosphate metabolism
    Metabolic pathways
    Phosphatidylinositol signaling system
    Regulation of autophagy
    Phagosome


    PIK3C3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PIK3C3: 
              mTOR Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Autophagy in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PIK3C3

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

    Selected Interacting proteins for PIK3C3 (Q8NEB91, 2, 3 ENSP000002620394) via UniProtKB, MINT, STRING, and/or I2D (see all 378)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly IEA--
    GO:0000910cytokinesis IMP--
    GO:0002224toll-like receptor signaling pathway TAS--
    GO:0006468protein phosphorylation ----
    GO:0006644phospholipid metabolic process TAS--

    PIK3C3 for ontologies           About GeneDecksing



    (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 PIK3C3 (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 PIK3C3 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]

    Selected HMDB Compounds for PIK3C3 (see all 385)    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Phosphatidyl-1D-myo-inositol 3-phosphate1-Phosphatidyl-1D-myo-inositol 3-phosphate (see all 3)----
    1-Phosphatidyl-D-myo-inositol1-Phosphatidyl-1D-myo-inositol (see all 6)----
    1D-Myo-inositol 1,3-bisphosphateD-myo-Inositol 1,3-bisphosphate (see all 7)103597-56-4--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Manganesemanganese 7439-96-5--
    PI(16:0/16:0)Phosphatidylinositol(32:0) (see all 8)----
    PI(16:0/16:1(9Z))Phosphatidylinositol(32:1) (see all 14)----
    PI(16:0/16:2(9Z,12Z))Phosphatidylinositol(16:0/16:2n4) (see all 18)----
    PI(16:0/18:0)Phosphatidylinositol(16:0/18:0) (see all 8)----

    1 DrugBank Compound for PIK3C3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-(5-(4-CHLORO-3-(2-HYDROXY-ETHYLSULFAMOYL)- PHENYLTHIAZOLE-2-YL)-ACETAMIDE-- --target--10592235

    5 Novoseek inferred chemical compound relationships for PIK3C3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 3-phosphate 88.9 3 18725540 (3)
    phosphatidylinositol 65.3 1 11001925 (1)
    phosphoinositide 60.1 2 12023895 (1), 17371248 (1)
    rapamycin 52.3 3 15371835 (1), 17371248 (1), 17956340 (1)
    lipid 11.9 1 18048384 (1)



    PIK3C3 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PIK3C3 gene: 
    NM_002647.2  

    Unigene Cluster for PIK3C3:

    Phosphatidylinositol 3-kinase, catalytic subunit type 3
    Hs.464971  [show with all ESTs]
    Unigene Representative Sequence: AK090567
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262039(uc002lao.3 uc002lap.3 uc010xcl.2 uc002laq.3)
    ENST00000398870(uc002lar.1) ENST00000586545 ENST00000590220 ENST00000585528
    ENST00000591011 ENST00000589550 ENST00000593098 ENST00000590013 ENST00000596052
    ENST00000597477 ENST00000589056 ENST00000587402 ENST00000588631 ENST00000587261
    ENST00000588156 ENST00000587328
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PIK3C3 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PIK3C3:
    hsa-miR-338-5p hsa-miR-1236
    SwitchGear 3'UTR luciferase reporter plasmidPIK3C3 3' UTR sequence
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    Additional mRNA sequence: 

    AK022653.1 AK090567.1 AK298517.1 AK308364.1 BC010388.1 BC033004.2 BC053651.1 Z46973.1 

    12 DOTS entries:

    DT.445315  DT.100786018  DT.70105376  DT.91728751  DT.100786020  DT.101968856  DT.91728744  DT.100786019 
    DT.100786022  DT.95212231  DT.97782606  DT.40296217 

    Selected AceView cDNA sequences (see all 138):

    AA243771 AA757165 AA515103 AW002678 CA312357 BI856936 CB055190 BI822976 
    NM_002647 BX101437 BP336805 BU608793 AL561220 AA773745 BQ011941 CA312884 
    BU622899 AK090567 AA346544 AA243786 AI288485 BQ027504 AA773168 AI740511 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIK3C3 (see all 11)    About this scheme

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

    ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c · 27d · 27e
    SP1:                    -           -     -     -           -                                             
    SP2:                    -           -     -     -           -                                             
    SP3:                                                                                                      
    SP4:                    -                                                                                 
    SP5:                    -           -     -     -                                                         


    ECgene alternative splicing isoforms for PIK3C3

    (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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    PIK3C3 expression in normal human tissues (normalized intensities)      PIK3C3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACCTGAGT
    PIK3C3 Expression
    About this image


    PIK3C3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Endochondral Facial Bones
     
     Limb (Muscoskeletal System)
             Pelvic Girdle
     
     Cartilage (Muscoskeletal System)
             Meckel's Cartilage
    PIK3C3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIK3C3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.464971

    UniProtKB/Swiss-Prot: PK3C3_HUMAN, Q8NEB9
    Tissue specificity: Ubiquitously expressed, with a highest expression in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PIK3C3: 
              mTOR Signaling in human mouse rat
              Cancer Drug Targets in human mouse rat
              Autophagy in human mouse rat
              Cell Death PathwayFinder 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 eukaryotes.

    Orthologs for PIK3C3 gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pik3c31 , 5 phosphoinositide-3-kinase, class 31, 5 87.75(n)1
    97.97(a)1
      18 (17.41 cM)5
    2253261  NM_181414.51  NP_852079.21 
     302727475 
    chicken
    (Gallus gallus)
    Aves PIK3C31 phosphoinositide-3-kinase, class 3 82.39(n)
    93.68(a)
      100857877  XM_003642902.2  XP_003642950.2 
    lizard
    (Anolis carolinensis)
    Reptilia PIK3C36
    phosphatidylinositol 3-kinase, catalytic subunit t...
    95(a)
    1 ↔ 1
    1(37056120-37182872)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.112372 Xenopus laevis transcribed sequence with moderate similarity more 78.43(n)    CA788683.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc13g062 Transcribed sequence with strong similarity to protein more 74.84(n)    57072647 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pi3K59F1 , 3 phosphorylation phosphatidylinositol
    3-kinase3
    Phosphotidylinositol 3 kinase 59F1
    61(a)3
    58.99(n)1
    61.76(a)1
      377331  NM_057785.41  NP_477133.11 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-341 , 3 vps-341 38(a)3
    50.83(n)1
    41.57(a)1
      I(6036624-6041500)3
    1722801  NM_001025783.21  NP_001020954.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS34(YLR240W)4
    VPS341
    Phosphatidylinositol 3-kinase responsible for the synthesis more4
    VPS341
    48.13(n)1
    39.35(a)1
      12(617533-620160)4
    8509411, 4  NP_013341.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS341 VPS34 53.23(n)
    45.77(a)
      842344  NM_104735.3  NP_176251.1 
    rice
    (Oryza sativa)
    Liliopsida Os.111112 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.48(n)    AK111613.1 


    ENSEMBL Gene Tree for PIK3C3 (if available)
    TreeFam Gene Tree for PIK3C3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIK3C3 gene
    PIK3C2B2  PIK3CD2  PIK3CA2  PIK3C2G2  PIK3CG2  PIK3CB2  PIK3C2A2  
    5 SIMAP similar genes for PIK3C3 using alignment to 13 protein entries:     PK3C3_HUMAN (see all proteins):
    PIK3C2G    PIK3C2B    PIK3C2A    PI4KB    PIK3CB

    PIK3C3 for paralogs           About GeneDecksing



    (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 PIK3C3 (see all 2672)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs664850571,2
    C--36394696(-) CTAAA-/CACTGC
            
    CATAC
    1 -- int12Minor allele frequency- CACTGC:0.25NA 4
    rs668297531,2
    C--36492925(-) CCCTT-/TATATATATATATATATATA
    TATATATATATATATATATATA
    TATAT
    1 -- cds11Minor allele frequency- TATATATATATATATATATATATATATATATATATATATATA:0.00NA 2
    rs1809804371,2
    --39533223(+) TCCTTC/TACACA 1 -- us2k10--------
    rs1153373301,2
    F--39533228(+) TACACA/TTTGTC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1380372531,2
    --39533235(+) TGTCAA/GTATTT 1 -- us2k10--------
    rs1837289751,2
    --39533497(+) TTCTAC/TCCAAA 1 -- us2k10--------
    rs1881552901,2
    --39533577(+) TTTTCC/TTTTTC 1 -- us2k10--------
    rs1434750751,2
    --39533584(+) TTTCCA/GGGTTA 1 -- us2k10--------
    rs607923451,2
    --39533611(+) TCACCC/TTTTCT 1 -- us2k10--------
    rs1861774051,2
    --39533684(+) GATGTA/CCGTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PIK3C3 (39535171 - 39667794 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PIK3C3 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2316444CNV Deletion18987734
    esv2717009CNV Deletion23290073
    esv2717012CNV Deletion23290073
    esv2717011CNV Deletion23290073
    esv1518239CNV Deletion17803354
    esv2717010CNV Deletion23290073
    esv2674644CNV Deletion23128226
    nsv507870CNV Insertion20534489
    esv1001271CNV Insertion20482838
    esv34153CNV Loss18971310

    Human Gene Mutation Database (HGMD): PIK3C3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIK3C3
    DNA2.0 Custom Variant and Variant Library Synthesis for PIK3C3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602609    OMIM disorders: --

    Selected diseases for PIK3C3 (see all 26):    About MalaCards
    centronuclear myopathy    myopathy    kaposi's sarcoma    bipolar disorder
    esophagitis    hiv-1    esophageal squamous cell carcinoma    hepatitis c virus
    tuberculosis    sarcoma    schizophrenia    hepatitis c
    type 1 diabetes    squamous cell carcinoma    myeloid leukemia    adenocarcinoma
    alzheimer's disease    obesity    hepatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for PIK3C3:
    Centronuclear myopathy

    PIK3C3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): PIK3C3
    Human Genome Epidemiology (HuGE) Navigator: PIK3C3 (11 documents)

    Export disorders for PIK3C3 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 PIK3C3 gene, integrated from 10 sources (see all 120):
    (articles sorted by number of sources associating them with PIK3C3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human phosphatidylinositol 3-kinase complex related to the yeast Vps34p-Vps15p protein sorting system. (PubMed id 7628435)1, 2, 3 Volinia S.... Waterfield M.D. (EMBO J. 1995)
    2. Human VPS34 and p150 are Rab7 interacting partners. (PubMed id 14617358)1, 2, 9 Stein M.P.... Wandinger-Ness A. (Traffic 2003)
    3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (Carcinogenesis 2010)
    4. Promoter variant of PIK3C3 is associated with autoimmunity against Ro and Sm epitopes in African-American lupus patients. (PubMed id 20671926)1, 4 Kariuki S.N....Niewold T.B. (amp 2010)
    5. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    6. A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length. (PubMed id 19359265)1, 4 Mangino M....Spector T.D. (J. Med. Genet. 2009)
    7. Two Beclin 1-binding proteins, Atg14L and Rubicon, reciprocally regulate autophagy at different stages. (PubMed id 19270696)1, 2 Matsunaga K.... Yoshimori T. (Nat. Cell Biol. 2009)
    8. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    9. Replication of a genome-wide case-control study of esophageal squamous cell carcinoma. (PubMed id 18649358)1, 4 Ng D....Taylor P.R. (Int. J. Cancer 2008)
    10. Investigation of variants in the promoter region of PIK3C3 in schizophrenia. (PubMed id 18420347)1, 4 Tang R....Shi Y. (Neurosci. Lett. 2008)

    (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: 5289 HGNC: 8974 AceView: PIK3C3 Ensembl:ENSG00000078142 euGenes: HUgn5289
    ECgene: PIK3C3 Kegg: 5289 H-InvDB: PIK3C3

    (According to HUGE)
    About This Section

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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 PIK3C3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PIK3C3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PIK3C3 gene:
    Search GeneIP for patents involving PIK3C3

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



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