PIK3R1

PIK3R1

A gene on chromosome 5q13.1 that encodes a regulatory subunit of phosphoinositide 3-kinase. PIK3R1 binds to activated (phosphorylated) protein-Tyr kinases through its SH2 domain and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. It is necessary for the insulin-driven increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues, and it plays an important role in signalling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. PIK3R1 also plays a role in ITGB2 signalling.
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573); while the other genes associated with these pathways are down-regulated (ATM, CAMK4, FNBPI, ITPR1, NAPEPLD, PIK3R1, PRKA, PRKCH, and RHOH).
4) performance of gene set consisting of DNAJB5, RAC3, SLA2, HDLBP, PRG2, PER1, PIK3R1, and EAPP to dinstinguish between high and low [PM.
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
The group with only TERT mutations has a high prevalence of loss of chromosome 4 and acquired PIK3CA or PIK3R1 mutations.
PTGS2 (rs6685280) y STAT3 (rs 12949918) se encuentran asociados significativa e independientemente con susceptibilidad al CaR y tres SNP adicionales (AKTl [rsl 130214], PIK3R1 [rs251408] y STAT3 [rs3809758]) lo estan con CaP agresivo (51).
At the molecular level, these carcinomas are characterized by high-frequency genetic alterations in the PIK3CA, PIK3R1, and PTEN genes that produce inappropriate activation of the PI3K (phosphoinositide 3-kinase) [4] pathway (28-32).
CE decreased the expression of further genes encoding insulin-signaling pathway proteins including GSK3B, IGF1R, IGF2R, and PIK3R1.
1] phase of factor 1 mitotic cell cycle Guanine nucleotide GNB2 signaling pathway binding protein (G protein), beta polypeptide 2 Keratin 13 KRT13 Intermediate filament Keratin 15 KRT15 Intermediate filament Laminin, alpha 3 LAMA3 Cell surface receptor Phosphoinositide- PIK3R1 Phosphatidylinositol 3-kinase, regulatory 3-kinase activity subunit, polypeptide 1 Protocadherin 1 PCDH1 Cell-cell signaling Transducin (beta)-like TBL1XR1 Regulation of 1X-linked receptor 1 transcription Vav 3 oncogene VAV3 Small GTPase-mediated signal transduction V-myc myelocytomatosis MYCL 1 Transcription factor viral oncogene homolog 1 activity Xeroderma pigmentosum, XPA Nucleotide-excision complementation group A repair [iAs.
The most-common, potentially targetable alterations were mutations, amplifications, and homozygous deletions of PIK3CA (n = 8; 40%), PTEN (n = 5; 25%), CDKN2A/B (n = 4; 20%), CCND3 (n = 3; 15%), CCNE1 (n = 2; 10%), and EGFR (n = 2; 10%), with AKT3, CCND1, CCND2, CDK4, FBXW7, FGFR1, HRAS, NF1, PIK3R1, and SRC altered in a single case (Figure 1; Table 1).
68 TNBCs, (%) 9 TP53 pathway TP53 mut (75); gain of MDM2 (30) PIK3CA/PTEN PIK3CA mut (42); PTEN pathway mut/loss (19); INPP4B loss (30) RB1 pathway Cyclin D1 amp (38); CDK4 gain (24) mRNA expression HER2 amplicon signature; high proliferation Copy number Most aneuploid; high genomic instability; 1q, 8q gain; 8p loss; 17q12 focal ERBB2 amp (71) DNA mutations TP53 (75); PIK3CA (42); PIK3R1 (8) DNA methylation -- Protein expression High protein and phosphoprotein expression of EGFR and HER2 Reprinted with permission from Macmillan Publishers Ltd: Cancer Genome Atlas Network, (180) 2012, Nature 490(7418):67.
OncoMap Genes and Mutations (a) Gene Mutations ABL1 16 AKT1 1 AKT2 2 APC 13 BRAF 50 CDK4 1 CDKN2A 11 CSF1R 7 CTNNB1 33 EGFR 51 ERBB2 8 FGFR1 2 FGFR2 6 FGFR3 8 FLT3 9 GNA11 2 GNAQ 3 GNAS 3 HRAS 16 IDH1 3 IDH2 2 JAK2 1 JAK3 3 KIT 27 KRAS 24 MAP2K1 7 MET 6 MLH1 1 MYC 6 NPM1 3 NRAS 22 PDGFRA 20 PIK3CA 23 PIK3R1 14 PTEN 15 RB1 11 RET 14 SRC 1 STK11 12 TP53 7 VHL 7 (a) OncoMap 4 consists of 439 assays designed to interrogate 471 unique mutations in 41 cancer genes.