{"entity":{"id":"setdb1","kind":"target","name":"SETDB1","aka":["SET domain bifurcated histone lysine methyltransferase 1","Histone-lysine N-methyltransferase SETDB1","KG1T","KIAA0067","KMT1E","TDRD21"],"tldr":"SETDB1 (Histone-lysine N-methyltransferase SETDB1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Colorectal cancer, Hepatocellular carcinoma and 5 more.","summary":"Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes.\n\nIntOGen calls it a driver in 8 cohorts (5 activating, 3 loss-of-function), covering Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10761"},{"label":"UniProt Q15047","url":"https://www.uniprot.org/uniprotkb/Q15047/entry"},{"label":"NCBI Gene 9869","url":"https://www.ncbi.nlm.nih.gov/gene/9869"},{"label":"Ensembl ENSG00000143379","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143379"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","colorectal","hcc","head-and-neck","pancreatic","mesothelioma","endometrial","cll"],"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: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETDB1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10761","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15047","url":"https://www.uniprot.org/uniprotkb/Q15047/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SETDB1","url":"https://www.intogen.org/search?gene=SETDB1","note":"driver in 8 cohorts (Act 5, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:10761","ensembl":"ENSG00000143379","uniprot":"Q15047","entrez":"9869","biology":"Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1. Location: Nucleus; Cytoplasm; Chromosome (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/setdb1/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"cll","kind":"cancer","name":"Chronic lymphocytic leukaemia","route":"/cancers/cll/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"mesothelioma","kind":"cancer","name":"Mesothelioma","route":"/cancers/mesothelioma/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"}]}}