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    PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [ Homo sapiens (human) ]

    Gene ID: 5290, updated on 11-Oct-2020

    Summary

    Official Symbol
    PIK3CAprovided by HGNC
    Official Full Name
    phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaprovided by HGNC
    Primary source
    HGNC:HGNC:8975
    See related
    Ensembl:ENSG00000121879 MIM:171834
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCM; CWS5; MCAP; PI3K; CLAPO; CLOVE; MCMTC; PI3K-alpha; p110-alpha
    Summary
    Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
    Expression
    Ubiquitous expression in fat (RPKM 10.3), gall bladder (RPKM 7.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See PIK3CA in Genome Data Viewer
    Location:
    3q26.32
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (179148114..179240093)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (178866311..178952500)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger matrin-type 3 Neighboring gene uncharacterized LOC101928739 Neighboring gene potassium calcium-activated channel subfamily M regulatory beta subunit 3 Neighboring gene LRR binding FLII interacting protein 1 pseudogene 1 Neighboring gene CRISPRi-validated cis-regulatory element chr3.5052

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
    MedGen: C2751313 OMIM: 613089 GeneReviews: Not available
    Compare labs
    Colorectal cancer
    MedGen: C1527249 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi Compare labs
    Congenital macrodactylia
    MedGen: C0265552 OMIM: 155500 GeneReviews: Not available
    Compare labs
    Cowden syndrome 5
    MedGen: C3554518 OMIM: 615108 GeneReviews: Not available
    Compare labs
    Epidermal nevus
    MedGen: C0334082 OMIM: 162900 GeneReviews: Not available
    Compare labs
    Familial cancer of breast Compare labs
    Hepatocellular carcinoma
    MedGen: C2239176 OMIM: 114550 GeneReviews: Not available
    Compare labs
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Megalencephaly-capillary malformation-polymicrogyria syndrome Compare labs
    Neoplasm of ovary
    MedGen: C0919267 OMIM: 167000 GeneReviews: Not available
    Compare labs
    Neoplasm of stomach
    MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
    Compare labs
    Seborrheic keratosis
    MedGen: C0022603 OMIM: 182000 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2015-03-12)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2015-03-12)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of IL-6 and IL-8 via the p38 signaling pathway and the PI3K/Akt signaling pathway in astrocytes PubMed
    env HIV-1 gp120-induced PI3-kinase activity and calcium mobilization are inhibited by pertussis toxin and blocking antibodies directed against CCR5 and CXCR4, suggesting that this signaling is mediated through these chemokine receptors PubMed
    env Insulin-like growth factor-I (IGF-I) and erythropoietin treatment protect against HIV/gp120-mediated neuronal damage in culture and in vivo, in part, through cooperative activation of phosphatidylinositol 3-kinase/Akt/GSK-3beta signaling PubMed
    env Concomitant activation of Lyn, Pyk2, and class IA PI3K are required for gp120-induced IL-1beta production PubMed
    env CCR5 activation by gp120 triggers the assembly of endogenous Lyn, PI3K, and Pyk2 and is associated with PI3K and Pyk2 translocation from the cytoplasm to the membrane where they colocalized with Lyn PubMed
    env CD45 modulates HIV-1 gp120-induced apoptosis by regulating Fas ligand induction and activation of the phosphoinositide 3-kinase/Akt pathway PubMed
    env Pre-treatment of endothelial cells with fibroblast growth factor 2 (FGF2) protects cells from HIV-1 gp120 angiotoxicity; this protection is regulated by crosstalk among the ERK, PI3K-AKT and PKC signaling pathways PubMed
    env HIV-1 gp120-induced TNF-alpha production by primary human macrophages is mediated by phosphatidylinositol-3 (PI-3) kinase and mitogen-activated protein (MAP) kinase pathways PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 disrupts the association between phospholipase C gamma-1 and phosphoinositide 3 kinase (PI3-kinase), and this effect is dependent on PI3-kinase activity PubMed
    env PI3-kinase activation induced by HIV-1 gp160 leads to downregulation of LFA-1-mediated T cell adhesion to B cells PubMed
    Nef nef HIV-1 Nef interacts with AKT1 and PI3K via its C and N terminal extremity, respectively PubMed
    nef HIV-1 Nef activation of AKT1 is mediated by PI3K in peripheral blood lymphocytes PubMed
    nef HIV-1 Nef involves the PI3K-PKC pathway for induction of IL6 and CXCL8 (IL8) expression PubMed
    nef HIV-1 Nef synergizes with KSHV oncoprotein K1 to activate PI3K/AKT/mTOR signaling pathway, and induces cell proliferation and microtubule formation in endothelial cells PubMed
    nef In the context of Nef-associated kinase complex (NAKC), hnRNP-K interacts with HIV-1 Nef and recruits LCK, PKCdelta, and PI-3 kinase PubMed
    nef The presence of HIV-1 Nef in Jurkat cells stimulated with a combination of PMA and anti-CD28 upregulates the levels of PI3K production PubMed
    nef Downregulation of cell surface major histocompatibility complex class I (MHC-I) protein expression by HIV-1 Nef depends on a phosphoinositide 3-kinase (PI3K)-regulated signaling pathway, suggesting an interaction between Nef and PI3K PubMed
    nef The association of phosphatidylinositol (PI) 3-kinase with platelet-derived growth factor (PDGF) activated receptor was downregulated by HIV-1 nef expression PubMed
    Tat tat HIV-1 Tat and cocaine treatment activates PI3K and AKT in human pulmonary arterial smooth muscle cells PubMed
    tat HIV-1 Tat induces phosphorylation of PI3K, AKT, PTEN, and GSK-3beta activating PI3K and AKT and inactivating PTEN and GSK-3beta in vIL-6 expressing cells PubMed
    tat HIV-1 Tat-induced upregulation of IDO production requires the activity of IFN-gamma signaling pathway such as JAK and PI3K in human monocyte derived-dendritic cells PubMed
    tat PI3K/Akt, TRPC, and GSK3beta signaling pathways are all involved in PDGF-C mediated neuroprotection against HIV-1 Tat in human neuroblastoma cells PubMed
    tat Arctigenin regulates the upstream PI3K enzyme from converting PIP2 to PIP3 in Tat-expressing CHME5 cells PubMed
    tat Phosphatidylinositol 3-kinase/Akt signaling pathway is involved in HIV-1 Tat-induced NADPH oxidase stimulation and LTR transactivation PubMed
    tat HIV-1 Tat in combination with KSHV kaposin A activates the MEK/ERK, STAT3, and PI3K/Akt signals in NIH3T3 cells PubMed
    tat HIV-1 Tat-mediated cytopathic changes in human brain micro vascular endothelial cells involves its interaction with phosphatidylinositol 3-kinase (PI3K) PubMed
    tat Pro-survival effects of intracellular HIV-1 Tat in a microglial cell line is attributed to activation of the PI-3-kinase (PI3K)/Akt pathway via decreasing expression of PTEN, a negative regulator of the PI-3-K pathway PubMed
    tat HIV-1 Tat activates phosphatidylinositol 3-kinase (PI3K), leading to the activation of Akt/PKB, decreased levels of cAMP and CREB phosphorylation, and the protection of cells from apoptosis PubMed
    tat Phosphatidylinositol 3-kinase inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter by affecting the formation of the Tat-associated kinase transactivating complex PubMed
    tat HIV-1 Tat induced release of MCP-1 from human lung microvascular endothelial cells involves an interaction between Tat and PI3 kinase PubMed
    tat Activation of protein kinase C-epsilon by HIV-1 Tat involves an interaction with PI 3-kinase PubMed
    Vpr vpr PI3K/Akt mediated activation of NFKB1 (NF-kappa-B) is involved in HIV-1 Vpr induced upregulation of IL6 in astrocytes PubMed
    vpr PI3K/Akt mediated activation of NFKB1 (NF-kappa-B) is involved in HIV-1 Vpr induced upregulation of CXCL8 (IL8) in astrocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142161, MGC142163

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    1-phosphatidylinositol-3-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    1-phosphatidylinositol-4-phosphate 3-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor substrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    kinase activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol 3-kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol 3-kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    phosphatidylinositol kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-3,4-bisphosphate 5-kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ERBB2 signaling pathway TAS
    Traceable Author Statement
    more info
     
    Fc-epsilon receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Fc-gamma receptor signaling pathway involved in phagocytosis TAS
    Traceable Author Statement
    more info
     
    G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    T cell costimulation TAS
    Traceable Author Statement
    more info
     
    T cell receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    activation of protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    anoikis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
     
    cardiac muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    endothelial cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    energy homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    glucose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    hypomethylation of CpG island IEA
    Inferred from Electronic Annotation
    more info
     
    insulin receptor signaling pathway via phosphatidylinositol 3-kinase TAS
    Traceable Author Statement
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    liver development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of anoikis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fibroblast apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macroautophagy NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylinositol 3-kinase signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phosphatidylinositol phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol-3-phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol-mediated signaling TAS
    Traceable Author Statement
    more info
     
    phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of TOR signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of phosphatidylinositol 3-kinase signaling TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein kinase B signaling TAS
    Traceable Author Statement
    more info
     
    protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cellular respiration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of genetic imprinting IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    vascular endothelial growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    vasculature development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol 3-kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol 3-kinase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol 3-kinase complex, class IA IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phosphatidylinositol 3-kinase complex, class IA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol 3-kinase complex, class IB IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform
    Names
    PI3-kinase p110 subunit alpha
    phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha
    phosphatidylinositol 3-kinase, catalytic, alpha polypeptide
    phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha
    phosphoinositide-3-kinase, catalytic, alpha polypeptide
    ptdIns-3-kinase subunit p110-alpha
    serine/threonine protein kinase PIK3CA
    NP_006209.2
    XP_006713721.1
    XP_011511196.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012113.2 RefSeqGene

      Range
      5001..91190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_310

    mRNA and Protein(s)

    1. NM_006218.4NP_006209.2  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform

      See identical proteins and their annotated locations for NP_006209.2

      Status: REVIEWED

      Source sequence(s)
      AC076966, AI379480, AU129890, AW445128, BQ228953, BX437219, BX473473, BX484734, U79143
      Consensus CDS
      CCDS43171.1
      UniProtKB/Swiss-Prot
      P42336
      UniProtKB/TrEMBL
      Q4LE51
      Related
      ENSP00000263967.3, ENST00000263967.4
      Conserved Domains (5) summary
      cd08398
      Location:325484
      C2_PI3K_class_I_alpha; C2 domain present in class I alpha phosphatidylinositol 3-kinases (PI3Ks)
      cd00872
      Location:525696
      PI3Ka_I; Phosphoinositide 3-kinase (PI3K) class I, accessory domain ; PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, PI3K class I prefer phosphoinositol (4,5) ...
      cd05175
      Location:6951064
      PI3Kc_IA_alpha; Catalytic domain of Class IA Phosphoinositide 3-kinase alpha
      pfam00794
      Location:173292
      PI3K_rbd; PI3-kinase family, ras-binding domain
      pfam02192
      Location:32107
      PI3K_p85B; PI3-kinase family, p85-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      179148114..179240093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713658.4XP_006713721.1  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform isoform X1

      See identical proteins and their annotated locations for XP_006713721.1

      UniProtKB/Swiss-Prot
      P42336
      UniProtKB/TrEMBL
      Q4LE51
      Related
      ENSP00000493507.1, ENST00000643187.1
      Conserved Domains (5) summary
      cd08398
      Location:325484
      C2_PI3K_class_I_alpha; C2 domain present in class I alpha phosphatidylinositol 3-kinases (PI3Ks)
      cd00872
      Location:525696
      PI3Ka_I; Phosphoinositide 3-kinase (PI3K) class I, accessory domain ; PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, PI3K class I prefer phosphoinositol (4,5) ...
      cd05175
      Location:6951064
      PI3Kc_IA_alpha; Catalytic domain of Class IA Phosphoinositide 3-kinase alpha
      pfam00794
      Location:173292
      PI3K_rbd; PI3-kinase family, ras-binding domain
      pfam02192
      Location:32107
      PI3K_p85B; PI3-kinase family, p85-binding domain
    2. XM_011512894.2XP_011511196.1  phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform isoform X1

      See identical proteins and their annotated locations for XP_011511196.1

      UniProtKB/Swiss-Prot
      P42336
      UniProtKB/TrEMBL
      Q4LE51
      Conserved Domains (5) summary
      cd08398
      Location:325484
      C2_PI3K_class_I_alpha; C2 domain present in class I alpha phosphatidylinositol 3-kinases (PI3Ks)
      cd00872
      Location:525696
      PI3Ka_I; Phosphoinositide 3-kinase (PI3K) class I, accessory domain ; PIK domain is conserved in all PI3 and PI4-kinases. Its role is unclear but it has been suggested to be involved in substrate presentation. In general, PI3K class I prefer phosphoinositol (4,5) ...
      cd05175
      Location:6951064
      PI3Kc_IA_alpha; Catalytic domain of Class IA Phosphoinositide 3-kinase alpha
      pfam00794
      Location:173292
      PI3K_rbd; PI3-kinase family, ras-binding domain
      pfam02192
      Location:32107
      PI3K_p85B; PI3-kinase family, p85-binding domain
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