PIK3R5 (phosphoinositide-3-kinase regulatory subunit 5)

Gene

• Entrez ID: 23533
• Gene name: Phosphoinositide-3-kinase regulatory subunit 5
• Gene symbol: PIK3R5
• Synonyms (NCBI Gene): F730038I15Rik, FOAP-2, P101-PI3K, p101
• Chromosome: 17
• Chromosome location: 17p13.1
• Summary: Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks ar

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IEA
GO:0005943	Component	Phosphatidylinositol 3-kinase complex, class IA	EXP	10358071
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	IEA
GO:0005944	Component	Phosphatidylinositol 3-kinase complex, class IB	ISS
GO:0006955	Process	Immune response	NAS	31480354
GO:0007186	Process	G protein-coupled receptor signaling pathway	EXP	10358071
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	ISS
GO:0034451	Component	Centriolar satellite	IDA
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0043491	Process	Phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS

Other IDs

• MIM: 611317
• HGNC: 30035
• e!Ensembl: ENSG00000141506

Protein

• UniProt ID: Q8WYR1
• Protein name: Phosphoinositide 3-kinase regulatory subunit 5 (PI3-kinase regulatory subunit 5) (PI3-kinase p101 subunit) (Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit) (PtdIns-3-kinase regulatory subunit) (Protein FOAP-2) (PtdIns-3-kinase p101) (p1
• Protein function: Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity). {ECO:0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10486	PI3K_1B_p101	6 → 880	Phosphoinositide 3-kinase gamma adapter protein p101 subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with high expression in fetal brain compared to adult brain. Abundant expression is observed in cerebellum, cerebral cortex, cerebral meninges, and vermis cerebelli. {ECO:0000269|PubMed:15797027, ECO:0000269|PubM
• Sequence:

  MQPGATTCTEDRIQHALERCLHGLSLSRRSTSWSAGLCLNCWSLQELVSRDPGHFLILLE
  QILQKTREVQEKGTYDLLTPLALLFYSTVLCTPHFPPDSDLLLKAASTYHRFLTWPVPYC
  SICQELLTFIDAELKAPGISYQRLVRAEQGLPIRSHRSSTVTVLLLNPVEVQAEFLAVAN
  KLSTPGHSPHSAYTTLLLHAFQATFGAHCDVPGLHCRLQAKTLAELEDIFTETAEAQELA
  SGIGDAAEARRWLRTKLQAVGEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDSFDI
  LQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGHCAERDSLLSTSSLASHDSTLS
  LASSQASGPALSRHLLTSFVSGLSDGMDSGYVEDSEESSSEWPWRRGSQERRGHRRPGQK
  FIRIYKLFKSTSQLVLRRDSRSLEGSSDTALPLRRAGSLCSPLDEPVSPPSRAQRSRSLP
  QPKLGTQLPSWLLAPASRPQRRRPFLSGDEDPKASTLRVVVFGSDRISGKVARAYSNLRR
  LENNRPLLTRFFKLQFFYVPVKRSHGTSPGACPPPRSQTPSPPTDSPRHASPGELGTTPW
  EESTNDISHYLGMLDPWYERNVLGLMHLPPEVLCQQSLKAEAQALEGSPTQLPILADMLL
  YYCRFAARPVLLQVYQTELTFITGEKTTEIFIHSLELGHSAATRAIKASGPGSKRLGIDG
  DREAVPLTLQIIYSKGAISGRSRWSNLEKVCTSVNLNKACRKQEELDSSMEALTLNLTEV
  VKRQNSKSKKGFNQISTSQIKVDKVQIIGSNSCPFAVCLDQDERKILQSVVRCEVSPCYK
  PEKSDLSSPPQTPPDLPAQAAPDLCSLLCLPIMTFSGALP

• Sequence length: 880

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Ataxia with oculomotor apraxia type 3	Uncertain significance; Benign; Conflicting classifications of pathogenicity; not provided	rs746906096, rs775905402, rs144891748, rs4791764, rs4791765, rs381198, rs92535, rs16957702, rs381309, rs394811, rs11650737, rs9915880, rs62620227, rs2507725779, rs148129311, rs763464528, rs760651514, rs9903447, rs9902600, rs897094487, rs61761068	RCV001331707 RCV001333825 RCV001334818 RCV001788913 RCV001788914 RCV001788915 RCV001788916 RCV001787924 RCV001787925 RCV001787926 RCV001787927 RCV001787928 RCV001334816 RCV003134922 RCV003134923 RCV003134924 RCV003148388 RCV001788103 RCV001788102 RCV003233253 RCV000041972
Malignant lymphoma, large B-cell, diffuse	Benign	rs9915880, rs9903447, rs9902600	RCV005889260 RCV005892453 RCV005892452
PIK3R5-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs768534293, rs376161216, rs150203145, rs1379060098, rs140727165, rs150063233, rs141086831, rs62638685	RCV003934553 RCV003944139 RCV003964095 RCV003941642 RCV003934723 RCV003949507 RCV003926121 RCV003948392
Spastic ataxia	Uncertain significance	rs749281989	RCV001647215
Squamous cell carcinoma of the head and neck	Benign	rs9915880	RCV005889259

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34580602
Colorectal Neoplasms	Associate	26222778
Diabetes Mellitus Type 2	Associate	28934129, 32596376
Heart Failure	Associate	37909603
Hypertension	Associate	34775477
Infections	Associate	33092168
Inflammation	Associate	34580602, 37909603
Leukemia Myeloid Acute	Associate	34187569
Melanoma	Associate	22912864
Neoplasms	Associate	30915882
Sarcopenia	Associate	37909603
Squamous Cell Carcinoma of Head and Neck	Associate	25374236