SETDB1

Histone-lysine N-methyltransferase SETDB1 is an is_associated_with::enzyme that in humans is encoded by the SETDB1 is_associated_with::gene.

Function
The is_associated_with::SET domain is a highly conserved, approximately 150-amino acid motif implicated in the modulation of is_associated_with::chromatin structure. It was originally identified as part of a larger conserved region present in the is_associated_with::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.

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

Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Twenty seven tests were carried out on is_associated_with::mutant mice and four significant abnormalities were observed. No is_associated_with::homozygous is_associated_with::mutant embryos were identified during gestation, and therefore none survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::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.

Interactions
SETDB1 has been shown to interact with is_associated_with::TRIM28. >