{"entity":{"id":"rb1","kind":"target","name":"RB1","aka":["RB transcriptional corepressor 1","Retinoblastoma-associated protein","PPP1R130"],"tldr":"RB1 (Retinoblastoma-associated protein) is a protein that switches other genes on and off. 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 Bladder & urothelial cancer, Lung cancer, Neuroendocrine tumours and 5 more.","summary":"Tumour suppressor that is a key regulator of the G1/S transition of the cell cycle. The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 9 variants, naming Palbociclib, Fulvestrant, Gemcitabine and Olaparib and others. Open Targets scores its association with cancer at 0.93 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.92, literature 1.00, genetic association 0.95, somatic mutation 0.98, animal model 0.68). IntOGen calls it a driver in 65 cohorts (1 activating, 61 loss-of-function), covering Adrenocortical Carcinoma, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma, Oesophageal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9884","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884"},{"label":"UniProt P06400","url":"https://www.uniprot.org/uniprotkb/P06400/entry"},{"label":"NCBI Gene 5925","url":"https://www.ncbi.nlm.nih.gov/gene/5925"},{"label":"Ensembl ENSG00000139687","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139687"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","lung-cancer","neuroendocrine","sarcoma","hcc","breast-cancer","skin-cancer","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bladder-cancer-signalling","cancer-stem-cells-plasticity","cml-signalling","hepatocellular-carcinoma-signalling","lineage-plasticity-neuroendocrine","resistance-routes-map","sclc-signalling"],"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: CIViC lists 16 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 61 cohorts; CIViC holds 18 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: Urinary Bladder Cancer; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9884","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06400","url":"https://www.uniprot.org/uniprotkb/P06400/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RB1","url":"https://civicdb.org/features/4795","note":"18 evidence items, 0 assertions, 9 variants; diseases: Breast Cancer, Triple-negative Breast Cancer, Lung Non-small Cell Carcinoma, Glioblastoma, Oestrogen Receptor-positive Breast Cancer and 6 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000139687","url":"https://platform.opentargets.org/target/ENSG00000139687/associations","note":"association with cancer (MONDO_0004992) 0.93; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.70, small cell lung carcinoma 0.73, colorectal cancer 0.53, oesophageal cancer 0.55, hepatocellular carcinoma 0.63, prostate cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen RB1","url":"https://www.intogen.org/search?gene=RB1","note":"driver in 65 cohorts (Act 1, LoF 61); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:9884","ensembl":"ENSG00000139687","uniprot":"P06400","entrez":"5925","biology":"Tumour suppressor that is a key regulator of the G1/S transition of the cell cycle. The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription. Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase. RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilising histone methylation. Location: Nucleus; Cytoplasm (UniProt). Locus 13q14.2 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.80 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 8 cohorts (BLADDER, BLCA)","Lung cancer: Open Targets association 0.80 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.79 with neuroendocrine neoplasm (MONDO_0019496)","Sarcomas: Open Targets association 0.78 with sarcoma (MONDO_0005089); IntOGen driver in 4 cohorts (LIPO, LMS, SOFT_TISSUE)","Hepatocellular carcinoma: Open Targets association 0.63 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 7 cohorts (HCC)","Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/rb1/","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":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"neuroendocrine","kind":"cancer","name":"Neuroendocrine tumours","route":"/cancers/neuroendocrine/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"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/"}],"pathway":[{"id":"bladder-cancer-signalling","kind":"pathway","name":"Bladder cancer (KEGG map)","route":"/pathways/bladder-cancer-signalling/"},{"id":"cancer-stem-cells-plasticity","kind":"pathway","name":"Cancer stem cells & phenotypic plasticity","route":"/pathways/cancer-stem-cells-plasticity/"},{"id":"cml-signalling","kind":"pathway","name":"Chronic myeloid leukaemia (KEGG map)","route":"/pathways/cml-signalling/"},{"id":"hepatocellular-carcinoma-signalling","kind":"pathway","name":"Hepatocellular carcinoma (KEGG map)","route":"/pathways/hepatocellular-carcinoma-signalling/"},{"id":"lineage-plasticity-neuroendocrine","kind":"pathway","name":"Lineage plasticity & neuroendocrine transformation","route":"/pathways/lineage-plasticity-neuroendocrine/"},{"id":"resistance-routes-map","kind":"pathway","name":"Resistance routes: how a blocked pathway comes back","route":"/pathways/resistance-routes-map/"},{"id":"sclc-signalling","kind":"pathway","name":"Small cell lung cancer (KEGG map)","route":"/pathways/sclc-signalling/"}]}}