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Available structures
PDBOrtholog search: PDBe RCSB
AliasesSETDB1, ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21, SET domain bifurcated 1, SET domain bifurcated histone lysine methyltransferase 1
External IDsMGI: 1934229 HomoloGene: 32157 GeneCards: SETDB1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for SETDB1
Genomic location for SETDB1
Band1q21.3Start150,926,263 bp[1]
End150,964,744 bp[1]
RNA expression pattern
PBB GE SETDB1 203155 at fs.png

PBB GE SETDB1 214197 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 1: 150.93 – 150.96 MbChr 3: 95.32 – 95.36 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the SETDB1 gene.[5][6]SETDB1 is also known as KMT1E or H3K9 methyltransferase ESET.


The SET domain is a highly conserved, approximately 150-amino acid motif implicated in the modulation of chromatin structure. It was originally identified as part of a larger conserved region present in the Drosophila Trithorax protein and was subsequently identified in the Drosophila Su(var)3-9 and 'Enhancer of zeste' proteins, from which the acronym SET is derived. Studies have suggested that the SET domain may be a signature of proteins that modulate transcriptionally active or repressed chromatin states through chromatin remodeling activities.[6]

Model organisms[edit]

Model organisms have been used in the study of SETDB1 function. A conditional knockout mouse line, called Setdb1tm1a(EUCOMM)Wtsi[12][13] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty seven tests were carried out on mutant mice and four significant abnormalities were observed.[10] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and two significant abnormalities were observed. Females had abnormal peripheral blood lymphocytes data and both sexes displayed increased bone strength and mineral content.[10]


SETDB1 has been shown to interact with TRIM28.[18]>


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143379 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015697 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Harte PJ, Wu W, Carrasquillo MM, Matera AG (June 1999). "Assignment of a novel bifurcated SET domain gene, SETDB1, to human chromosome band 1q21 by in situ hybridization and radiation hybrids". Cytogenet. Cell Genet. 84 (1–2): 83–6. doi:10.1159/000015220. PMID 10343109.
  6. ^ a b "Entrez Gene: SETDB1 SET domain, bifurcated 1".
  7. ^ "Peripheral blood lymphocytes data for Setdb1". Wellcome Trust Sanger Institute.
  8. ^ "Salmonella infection data for Setdb1". Wellcome Trust Sanger Institute.
  9. ^ "Citrobacter infection data for Setdb1". Wellcome Trust Sanger Institute.
  10. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  11. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ^ "International Knockout Mouse Consortium".
  13. ^ "Mouse Genome Informatics".
  14. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  15. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ^ Collins FS, Rossant J, Wurst W (2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  17. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  18. ^ Schultz DC, Ayyanathan K, Negorev D, Maul GG, Rauscher FJ (April 2002). "SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins". Genes Dev. 16 (8): 919–32. doi:10.1101/gad.973302. PMC 152359. PMID 11959841.

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.