{"entity":{"id":"pik3r1","kind":"target","name":"PIK3R1","aka":["phosphoinositide-3-kinase regulatory subunit 1","Phosphatidylinositol 3-kinase regulatory subunit alpha","GRB1","p85-ALPHA","p85","p85alpha"],"tldr":"PIK3R1 (Phosphatidylinositol 3-kinase regulatory subunit alpha) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Colorectal cancer, Breast cancer and 5 more.","summary":"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. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signalling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Doxorubicin, Buparlisib, MTOR Kinase Inhibitor PP242 and Aspirin. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.85, literature 0.98, genetic association 0.71, somatic mutation 0.91). IntOGen calls it a driver in 24 cohorts (9 activating, 14 loss-of-function), covering Adenoid Cystic Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Glioblastoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8979"},{"label":"UniProt P27986","url":"https://www.uniprot.org/uniprotkb/P27986/entry"},{"label":"NCBI Gene 5295","url":"https://www.ncbi.nlm.nih.gov/gene/5295"},{"label":"Ensembl ENSG00000145675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145675"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","colorectal","breast-cancer","skin-cancer","sarcoma","gastric","leukaemia","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67; IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 14 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3R1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8979","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27986","url":"https://www.uniprot.org/uniprotkb/P27986/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3R1","url":"https://civicdb.org/features/4289","note":"4 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Glioblastoma, Breast Cancer, Sarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000145675","url":"https://platform.opentargets.org/target/ENSG00000145675/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: colorectal cancer 0.68, ovarian cancer 0.56, endometrial cancer 0.71, melanoma 0.57, glioblastoma 0.59, skin cancer 0.63 (GraphQL API, CC0)"},{"label":"IntOGen PIK3R1","url":"https://www.intogen.org/search?gene=PIK3R1","note":"driver in 24 cohorts (Act 9, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:8979","ensembl":"ENSG00000145675","uniprot":"P27986","entrez":"5295","biology":"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. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signalling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signalling. Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement. Location: Cytoplasm (UniProt). Locus 5q13.1 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.71 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Colorectal cancer: Open Targets association 0.68 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Sarcomas: CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 2 cohorts (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/pik3r1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}