Histone-Lysine N-Methyltransferase SETDB1

Preferred Label : Histone-Lysine N-Methyltransferase SETDB1;

NCIt synonyms : SETDB1; ESET; ERG-Associated Protein with Set Domain; Histone H3-K9 Methyltransferase 4; EC 2.1.1.43; SET Domain Bifurcated 1; Lysine N-Methyltransferase 1E; Histone-Lysine N-Methyltransferase H3 Lysine-9 Specific 4; H3-K9-HMTase 4; Histone-H3-K9 Methyltransferase-4;

NCIt definition : Histone-lysine N-methyltransferase SETDB1 (1291 aa, 143 kDa) is encoded by the human SETDB1 gene. This protein is involved in histone methylation.;

NCIt note : Histone H3-K9 Methyltransferase 4 methylates histone H3 Lys-9 in epigenetic transcriptional repression that recruits HP1 proteins to methylated histones. SETDB1 contains an MBD domain, a pre-SET, a SET, and a post-SET domain, and 2 Tudor domains; pre-SET, SET and post-SET are required for methyltransferase activity. Isoform 2 lacks all methyltransferase domains. The conserved SET domain is implicated in transcriptional modulation of active or repressed chromatin through remodeling. Targeted to histone by TRIM28/TIF1B, SETDB1 contributes to euchromatic gene silencing by KRAB zinc-finger proteins and may interact with ERG.;

Details

Origin ID

C29940;

UMLS CUI

C1122259;

OMIM relation
- Set domain protein, bifurcated, 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
UMLS correspondences (same concept)
- SETDB1 protein, human [MeSH concept]
- SETDB1 protein, human [MeSH Supplementary Concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Methyltransferase Gene [NCIt concept]
- SETDB1 Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_structural_domain_or_motif
- SET Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Lysine Degradation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Chromatin Remodeling [NCIt concept]
- Gene Expression [NCIt concept]
- Histone Methylation [NCIt concept]
- Methylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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