# SETDB1

Source: https://onco.cc/targets/setdb1/  
OnCo record `setdb1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

IntOGen 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.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: SET domain bifurcated histone lysine methyltransferase 1; Histone-lysine N-methyltransferase SETDB1; KG1T; KIAA0067; KMT1E; TDRD21
- Tags: cancer-genes-wave
- Symbol: SETDB1
- Class: transcription
- 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).
- Where found: 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)

## 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.

## Sources

- HGNC HGNC:10761: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10761
- UniProt Q15047: https://www.uniprot.org/uniprotkb/Q15047/entry
- NCBI Gene 9869: https://www.ncbi.nlm.nih.gov/gene/9869
- Ensembl ENSG00000143379: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143379

## Connected records

- collections: [IntOGen](https://onco.cc/collections/intogen/)
- cancers: [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Chronic lymphocytic leukaemia](https://onco.cc/cancers/cll/), [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Endometrial cancer](https://onco.cc/cancers/endometrial/), [Head and neck squamous cell carcinoma](https://onco.cc/cancers/head-and-neck/), [Hepatocellular carcinoma](https://onco.cc/cancers/hcc/), [Mesothelioma](https://onco.cc/cancers/mesothelioma/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/)

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JSON: https://onco.cc/api/v1/entities/setdb1.json