{"entity":{"id":"notch1","kind":"target","name":"NOTCH1","aka":["notch receptor 1","Neurogenic locus notch homolog protein 1","TAN1"],"tldr":"NOTCH1 (Neurogenic locus notch homolog protein 1) 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 Leukaemia, Non-Hodgkin lymphoma, Head and neck squamous cell carcinoma and 5 more.","summary":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.\n\nCIViC holds 33 clinical evidence items and 0 assertions across 33 variants, naming Prednisone, Porcupine Inhibitor WNT974, Nirogacestat and NOTCH1 Antibody (PF-06293622) and others. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes clinical 0.08, affected pathway 0.97, literature 1.00, genetic association 0.00, somatic mutation 0.95, animal model 0.43). IntOGen calls it a driver in 39 cohorts (10 activating, 29 loss-of-function), covering Acute Lymphoblastic Leukaemia, Angiosarcoma, Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881"},{"label":"UniProt P46531","url":"https://www.uniprot.org/uniprotkb/P46531/entry"},{"label":"NCBI Gene 4851","url":"https://www.ncbi.nlm.nih.gov/gene/4851"},{"label":"Ensembl ENSG00000148400","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148400"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","head-and-neck","lung-cancer","esophageal","salivary-gland","colorectal","cervical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["field-cancerisation"],"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 0.08; IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 29 cohorts; CIViC holds 33 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: T-cell Acute Lymphoblastic Leukaemia; Adult T-cell Leukaemia/lymphoma; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOTCH1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46531","url":"https://www.uniprot.org/uniprotkb/P46531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH1","url":"https://civicdb.org/features/50","note":"33 evidence items, 0 assertions, 33 variants; diseases: T-cell Acute Lymphoblastic Leukaemia, Chronic Lymphocytic Leukaemia, Lung Non-small Cell Carcinoma, Mantle Cell Lymphoma, Colorectal Cancer and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000148400","url":"https://platform.opentargets.org/target/ENSG00000148400/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: oesophageal cancer 0.56, cervical cancer 0.53, head and neck squamous cell carcinoma 0.69, acute lymphoblastic leukaemia 0.79, B-cell chronic lymphocytic leukaemia 0.74, non-Hodgkin lymphoma 0.81 (GraphQL API, CC0)"},{"label":"IntOGen NOTCH1","url":"https://www.intogen.org/search?gene=NOTCH1","note":"driver in 39 cohorts (Act 10, LoF 29); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:7881","ensembl":"ENSG00000148400","uniprot":"P46531","entrez":"4851","biology":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. Location: Cell membrane; Late endosome membrane; Nucleus (UniProt). Locus 9q34.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.82 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.81 with non-Hodgkin lymphoma (MONDO_0018908)","Head and neck squamous cell carcinoma: Open Targets association 0.69 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease","Lung cancer: Open Targets association 0.66 with lung cancer (MONDO_0008903)","Oesophageal cancer: Open Targets association 0.56 with oesophageal cancer (MONDO_0007576); IntOGen driver in 3 cohorts (ESCA)","Salivary gland cancers: IntOGen driver in 3 cohorts (SACA)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/notch1/","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":"cervical","kind":"cancer","name":"Cervical cancer","route":"/cancers/cervical/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"salivary-gland","kind":"cancer","name":"Salivary gland cancers","route":"/cancers/salivary-gland/"}],"pathway":[{"id":"field-cancerisation","kind":"pathway","name":"Field cancerisation","route":"/pathways/field-cancerisation/"}]}}