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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. This dossier gathers the 0 products (0 approved), 0 trials, 0 pathways and 0 resistance routes in the corpus that involve it, with external identifiers so it can be joined to UniProt, ChEMBL, Open Targets and the rest of 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).
| Cancer | Prevalence | Measure | Note | Source |
|---|---|---|---|---|
| Small-cell lung cancer | 73-100% | Biallelic inactivation | cBioPortal: 87 of 120, 72.5%, carry a non-synonymous RB1 mutation in sclc_ucologne_2015, against 34 of 566, 6.0%, in lung adenocarcinoma. Biallelic inactivation was found in nearly all of the 110 sequenced genomes, and the two tumours with wild-type RB1 showed chromothripsis leading to cyclin D1 overexpression, an alternative route to the same deregulation (George 2015). | cBioPortal (TCGA) |
| Triple-negative breast cancer | 15-20% | Mutation or deletion (loss) | RB1 mutation or loss in 20% of basal-like tumours (Cancer Genome Atlas 2012); RB1 loss of heterozygosity in 72% of basal-like tumours among 88 carcinomas, with low RB1 mRNA (Herschkowitz 2008); cBioPortal: deep deletion in 13 of 119, 10.9%, and mutation in 6 of 123, 4.9%, in brca_tcga_pan_can_atlas_2018; mutation in 18 of 299, 6.0%, and deep deletion in 8 of 320, 2.5%, in brca_metabric; mutation in 17 of 176, 9.7%, and deep deletion in 11 of 176, 6.2%, in breast_msk_2018. Copy-number deletion of RB1 marked the BL1 subtype (Bareche 2018). | doi.org |
| Prostate cancer | 3-23% | Deep deletion, and inactivating mutation | cBioPortal deep deletion: 46 of 489, 9.4%, in prad_tcga_pan_can_atlas_2018; 41 of 1,013, 4.0%, in prad_p1000; 13 of 424, 3.1%, in prad_mcspc_mskcc_2020; 76 of 2,260, 3.4%, in prostate_msk_2024; 43 of 444, 9.7%, in prad_su2c_2019; 29 of 149, 19.5%, in prad_fhcrc; 14 of 61, 23.0%, in prad_mich. Mutation adds 1.5 to 10% (16 of 444, 3.6%, in prad_su2c_2019; 8 of 114, 7.0%, in nepc_wcm_2016). | cBioPortal (TCGA) |
Approximate, population-level figures; the measure column says what was counted. Ranges show the midpoint as a bar.
No product in the corpus is aimed at this target yet.
No trial in the corpus names this target or one of its products.
No recorded escape route names this target.
No pathway diagram carries this target as a node.
No companion diagnostic in the registry measures this target.
No model entry for this target yet; check the cancer entries on the models page.
No open questions recorded for this target yet. Suggest one.
Query for this target: (TITLE:"RB1" OR ABSTRACT:"RB1" OR TITLE:"RB transcriptional corepressor 1" OR ABSTRACT:"RB transcriptional corepressor 1" OR TITLE:"Retinoblastoma-associated protein" OR ABSTRACT:"Retinoblastoma-associated protein" OR TITLE:"PPP1R130" OR ABSTRACT:"PPP1R130") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about RB1, not a curated reading list.
The dossier as machine-readable JSON, at /api/v1/dossiers/rb1.json: identifiers from HGNC, Ensembl, UniProt and ChEMBL, products with status, trials, pathways, hotspots, open questions and assays. The full entity record is in the open API at /api/v1/entities/rb1.json. Licence CC BY-NC 4.0.