Format

Send to:

Choose Destination

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

Gene ID: 5290, updated on 12-Jul-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
109.20200522 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
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit, alpha isoform
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)
    smart00143
    Location:31108
    PI3K_p85B; PI3-kinase family, p85-binding domain
    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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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)
    smart00143
    Location:31108
    PI3K_p85B; PI3-kinase family, p85-binding domain
    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
  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)
    smart00143
    Location:31108
    PI3K_p85B; PI3-kinase family, p85-binding domain
    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
Support Center