SETDB1

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SETDB1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SETDB1, ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21, SET domain bifurcated 1
External IDs MGI: 1934229 HomoloGene: 32157 GeneCards: SETDB1
RNA expression pattern
PBB GE SETDB1 203155 at fs.png

PBB GE SETDB1 214197 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001145415
NM_001243491
NM_012432

NM_001163641
NM_001163642
NM_018877

RefSeq (protein)

NP_001138887
NP_001230420
NP_036564

n/a

Location (UCSC) Chr 1: 150.93 – 150.96 Mb Chr 3: 95.32 – 95.36 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Histone-lysine N-methyltransferase SETDB1 is an enzyme that in humans is encoded by the SETDB1 gene.[3][4]

Function[edit]

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.[4]

Model organisms[edit]

Model organisms have been used in the study of SETDB1 function. A conditional knockout mouse line, called Setdb1tm1a(EUCOMM)Wtsi[10][11] 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.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty seven tests were carried out on mutant mice and four significant abnormalities were observed.[8] 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.[8]

Interactions[edit]

SETDB1 has been shown to interact with TRIM28.[16]>

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ a b "Entrez Gene: SETDB1 SET domain, bifurcated 1". 
  5. ^ "Peripheral blood lymphocytes data for Setdb1". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Setdb1". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Setdb1". Wellcome Trust Sanger Institute. 
  8. ^ 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. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ 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 3572410Freely accessible. PMID 21677750. 
  13. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ 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. 
  15. ^ 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 3218837Freely accessible. PMID 21722353. 
  16. ^ 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 152359Freely accessible. 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.