SETDB1

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.

SETDB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3DLM, 4X3S, 5KE2
Identifiers
Aliases	SETDB1, ESET, H3-K9-HMTase4, KG1T, KMT1E, TDRD21, SET domain bifurcated 1, SET domain bifurcated histone lysine methyltransferase 1
External IDs	OMIM: 604396; MGI: 1934229; HomoloGene: 32157; GeneCards: SETDB1; OMA:SETDB1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.3 Start 150,926,263 bp[1] End 150,964,744 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.1 Start 95,230,836 bp[2] End 95,264,513 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve monocyte granulocyte right lobe of thyroid gland right ovary left ovary left testis right testis right uterine tube left lobe of thyroid gland Top expressed in secondary oocyte zygote primary oocyte Ileal epithelium tail of embryo otic placode genital tubercle superior surface of tongue gallbladder ventricular zone More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity DNA binding promoter-specific chromatin binding zinc ion binding histone-lysine N-methyltransferase activity metal ion binding protein binding chromatin binding histone methyltransferase activity (H3-K9 specific) Cellular component intracellular membrane-bounded organelle plasma membrane nucleoplasm chromosome nucleus cytosol cytoplasm Biological process regulation of transcription, DNA-templated positive regulation of DNA methylation-dependent heterochromatin assembly response to vitamin transcription, DNA-templated methylation histone lysine methylation Ras protein signal transduction response to ethanol chromatin organization negative regulation of single stranded viral RNA replication via double stranded DNA intermediate histone H3-K9 methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9869 84505 Ensembl ENSG00000143379 ENSMUSG00000015697 UniProt Q15047 O88974 RefSeq (mRNA) NM_001145415 NM_001243491 NM_012432 NM_001366417 NM_001366418 NM_001163641 NM_001163642 NM_018877 RefSeq (protein) NP_001138887 NP_001230420 NP_036564 NP_001353346 NP_001353347 n/a Location (UCSC) Chr 1: 150.93 – 150.96 Mb Chr 3: 95.23 – 95.26 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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]

During meiosis, synapsis of homologous chromosomes ensures correct homologous chromosome segregation. Asynapsed homologs are transcriptionally inactivated by a process of meiotic silencing.^[7] Meiotic silencing depends on the DNA damage response network.^[7] SETDB1 protein has been identified as the bridge linking the DNA damage response to chromosome silencing in male mice.^[7]

Interactions

SETDB1 has been shown to interact with TRIM28.^[8]>

See also

• SETD1A, a protein that is highly homologous to SETDB1