PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta)

Gene

• Entrez ID: 5291
• Gene name: Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
• Gene symbol: PIK3CB
• Synonyms: P110BETA, PI3K, PI3KBETA, PIK3C1
• Chromosome: 3
• Chromosome location: 3q22.3
• Summary: This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1577033077	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025952	hsa-miR-7-5p	Microarray	19073608
MIRT732928	hsa-miR-101-3p	qRT-PCR, Western blot	26458815
MIRT732929	hsa-miR-125b-5p	qRT-PCR, Western blot	26458815
MIRT761252	hsa-miR-1207-3p	PAR-CLIP	27292025
MIRT768876	hsa-miR-4424	PAR-CLIP	27292025
MIRT770941	hsa-miR-4682	PAR-CLIP	27292025
MIRT779200	hsa-miR-6787-3p	PAR-CLIP	27292025
MIRT780001	hsa-miR-6830-5p	PAR-CLIP	27292025
MIRT782393	hsa-miR-8077	PAR-CLIP	27292025
MIRT783738	hsa-miR-130b-5p	HITS-CLIP	27418678
MIRT784226	hsa-miR-2117	HITS-CLIP	27418678
MIRT784592	hsa-miR-3124-3p	HITS-CLIP	27418678
MIRT785569	hsa-miR-4277	HITS-CLIP	27418678
MIRT786614	hsa-miR-4753-3p	HITS-CLIP	27418678
MIRT788881	hsa-miR-6809-3p	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	TAS	10570282
GO:0001952	Process	Regulation of cell-matrix adhesion	IMP	25139353
GO:0002931	Process	Response to ischemia	ISS	30496354
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	IMP	18558630
GO:0005515	Function	Protein binding	IPI	19380743, 20713702, 22402981, 23397142, 25241761, 25556234, 25814554, 26496610, 27107012, 28514442, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	30496354
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA	21873635
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006935	Process	Chemotaxis	TAS	10570282
GO:0007165	Process	Signal transduction	NAS	10570282
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	TAS	21035500
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	21321382
GO:0007411	Process	Axon guidance	TAS
GO:0010508	Process	Positive regulation of autophagy	TAS	21321382
GO:0010595	Process	Positive regulation of endothelial cell migration	IGI	18558630
GO:0010628	Process	Positive regulation of gene expression	IMP	25139353
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IBA	21873635
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IGI	30496354
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	IMP	18558630, 25339672
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	ISS	30496354
GO:0014065	Process	Phosphatidylinositol 3-kinase signaling	TAS	21321382
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS
GO:0016020	Component	Membrane	IBA	21873635
GO:0016301	Function	Kinase activity	IDA	25327288
GO:0016303	Function	1-phosphatidylinositol-3-kinase activity	IBA	21873635
GO:0016310	Process	Phosphorylation	IDA	25327288
GO:0016477	Process	Cell migration	IBA	21873635
GO:0016477	Process	Cell migration	TAS	21035500, 21321382
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030168	Process	Platelet activation	TAS	21035500
GO:0030496	Component	Midbody	IDA
GO:0033031	Process	Positive regulation of neutrophil apoptotic process	IMP	25339672
GO:0035004	Function	Phosphatidylinositol 3-kinase activity	TAS	21035500
GO:0035005	Function	1-phosphatidylinositol-4-phosphate 3-kinase activity	IBA	21873635
GO:0035022	Process	Positive regulation of Rac protein signal transduction	IGI	18558630
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IBA	21873635
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043407	Process	Negative regulation of MAP kinase activity	ISS	30496354
GO:0046854	Process	Phosphatidylinositol phosphorylation	IBA	21873635
GO:0046934	Function	Phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IBA	21873635
GO:0048015	Process	Phosphatidylinositol-mediated signaling	TAS
GO:0050852	Process	T cell receptor signaling pathway	TAS
GO:0050900	Process	Leukocyte migration	TAS
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IMP	18558630
GO:0051897	Process	Positive regulation of protein kinase B signaling	IMP	18558630
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0051898	Process	Negative regulation of protein kinase B signaling	IGI	30496354
GO:0052742	Function	Phosphatidylinositol kinase activity	IBA	21873635
GO:0052812	Function	Phosphatidylinositol-3,4-bisphosphate 5-kinase activity	IEA
GO:0070527	Process	Platelet aggregation	TAS	21035500
GO:1900747	Process	Negative regulation of vascular endothelial growth factor signaling pathway	IGI	30496354
GO:1903671	Process	Negative regulation of sprouting angiogenesis	IMP	30496354
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	TAS	21321382

Other IDs

• MIM: 602925
• HGNC: 8976
• e!Ensembl: ENSG00000051382

Protein

• UniProt ID: P42338
• Protein name: Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform (PI3-kinase subunit beta) (PI3K-beta) (PI3Kbeta) (PtdIns-3-kinase subunit beta) (EC 2.7.1.153) (Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit beta) (PtdIns-3-kinase subunit p110-beta) (p110beta)
• Protein function: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G-protein coupled receptors (GPCRs) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signaling pathways for stable platelet adhesion and aggregation. Plays a role in platelet activation signaling triggered by GPCRs, alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) and ITAM (immunoreceptor tyrosine-based activation motif)-bearing receptors such as GP6. Regulates the strength of adhesion of ITGA2B/ ITGB3 activated receptors necessary for the cellular transmission of contractile forces. Required for platelet aggregation induced by F2 (thrombin) and thromboxane A2 (TXA2). Has a role in cell survival. May have a role in cell migration. Involved in the early stage of autophagosome formation. Modulates the intracellular level of PtdIns3P (phosphatidylinositol 3-phosphate) and activates PIK3C3 kinase activity. May act as a scaffold, independently of its lipid kinase activity to positively regulate autophagy. May have a role in insulin signaling as scaffolding protein in which the lipid kinase activity is not required. May have a kinase-independent function in regulating cell proliferation and in clathrin-mediated endocytosis. Mediator of oncogenic signal in cell lines lacking PTEN. The lipid kinase activity is necessary for its role in oncogenic transformation. Required for the growth of ERBB2 and RAS driven tumors.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02192	PI3K_p85B	42 → 117	PI3-kinase family, p85-binding domain	Family
  PF00794	PI3K_rbd	180 → 288	PI3-kinase family, ras-binding domain	Domain
  PF00792	PI3K_C2	347 → 490	Phosphoinositide 3-kinase C2	Domain
  PF00613	PI3Ka	527 → 711	Phosphoinositide 3-kinase family, accessory domain (PIK domain)	Family
  PF00454	PI3_PI4_kinase	799 → 1017	Phosphatidylinositol 3- and 4-kinase	Family

• Sequence:

  MCFSFIMPPAMADILDIWAVDSQIASDGSIPVDFLLPTGIYIQLEVPREATISYIKQMLW
  KQVHNYPMFNLLMDIDSYMFACVNQTAVYEELEDETRRLCDVRPFLPVLKLVTRSCDPGE
  KLDSKIGVLIGKGLHEFDSLKDPEVNEFRRKMRKFSEEKILSLVGLSWMDWLKQTYPPEH
  EPSIPENLEDKLYGGKLIVAVHFENCQDVFSFQVSPNMNPIKVNELAIQKRLTIHGKEDE
  VSPYDYVLQVSGRVEYVFGDHPLIQFQYIRNCVMNRALPHFILVECCKIKKMYEQEMIAI
  EAAINRNSSNLPLPLPPKKTRIISHVWENNNPFQIVLVKGNKLNTEETVKVHVRAGLFHG
  TELLCKTIVSSEVSGKNDHIWNEPLEFDINICDLPRMARLCFAVYAVLDKVKTKKSTKTI
  NPSKYQTIRKAGKVHYPVAWVNTMVFDFKGQLRTGDIILHSWSSFPDELEEMLNPMGTVQ
  TNPYTENATALHVKFPENKKQPYYYPPFDKIIEKAAEIASSDSANVSSRGGKKFLPVLKE
  ILDRDPLSQLCENEMDLIWTLRQDCREIFPQSLPKLLLSIKWNKLEDVAQLQALLQIWPK
  LPPREALELLDFNYPDQYVREYAVGCLRQMSDEELSQYLLQLVQVLKYEPFLDCALSRFL
  LERALGNRRIGQFLFWHLRSEVHIPAVSVQFGVILEAYCRGSVGHMKVLSKQVEALNKLK
  TLNSLIKLNAVKLNRAKGKEAMHTCLKQSAYREALSDLQSPLNPCVILSELYVEKCKYMD
  SKMKPLWLVYNNKVFGEDSVGVIFKNGDDLRQDMLTLQMLRLMDLLWKEAGLDLRMLPYG
  CLATGDRSGLIEVVSTSETIADIQLNSSNVAAAAAFNKDALLNWLKEYNSGDDLDRAIEE
  FTLSCAGYCVASYVLGIGDRHSDNIMVKKTGQLFHIDFGHILGNFKSKFGIKRERVPFIL
  TYDFIHVIQQGKTGNTEKFGRFRQCCEDAYLILRRHGNLFITLFALMLTAGLPELTSVKD
  IQYLKDSLALGKSEEEALKQFKQKFDEALRESWTTKVNWMAHTVRKDYRS

• Sequence length: 1070