Recombinant Human Histone-lysine N-methyltransferase EHMT1 (EHMT1), partial

1. Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD and mood disorders. PMID: 29416845
2. our biochemical characterization clearly demonstrates that the previously reported two missense mutations of EHMT1 deteriorate HMT activity and GLP function, which presumably cause KS. PMID: 29459631
3. Neurodevelopmental disorders may be related to deficits in activity-dependent wiring of brain circuits during development. Although Kleefstra syndrome has been associated with dendritic and synaptic defects in mice and Drosophila, little is known about the role of EHMT1 in the development of cortical neuronal networks. We investigated the impact of EHMT1 deficiency at the network and single cell level. PMID: 27767173
4. These results suggest that EHMT2 downregulation in CD4(+) T-cells may be linked to a protection mechanism against the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). PMID: 28608127
5. Regulated methylation and phosphorylation serve as a switch controlling G9a and GLP coactivator function, suggesting that this mechanism may be a general paradigm for directing specific transcription factor and coregulator actions on different genes. PMID: 28615290
6. missense variants in EHMT1 that lead to protein misfolding and disrupted histone mark binding can lead to Kleefstra Syndrome [case reports] PMID: 28057753
7. we find an estrogen receptor-independent synthetic lethal interaction between a GATA3 frameshift mutant with an extended C-terminus and the histone methyltransferases G9A and GLP, indicating perturbed epigenetic regulation PMID: 27588951
8. Selective degradation of the mutant EHMT1 mRNA leads to Kleefstra syndrome. PMID: 27651234
9. G9a and GLP are required for stable maintenance of imprinted DNA methylation in embryonic stem cells. PMID: 27052169
10. the clinical picture we found in Norwegian patients with Kleefstra syndrome is similar to the findings described in the literature. An interesting point is that in the literature >85% of the patients have a deletion of 9q34.3 and the remaining have a mutation in the EHMT1 gene, whereas in this study we found 50% with a deletion, and 50% with a mutation. PMID: 26808425
11. This study demonstrate that the increases in a restrictive epigenome seen in schizophrenia are sex dependent. Specifically,H3K9me2 were significantly increased in lymphocytes from men with schizophrenia. PMID: 25935252
12. data provide genetic and pharmacologic evidence that EHMT1 and EHMT2 are epigenetic regulators involved in gamma-globin repression and represent a novel therapeutic target for SCD. PMID: 26320100
13. The expression level of EHMT1 and EHMT2 inversely correlates with the type I interferon responsiveness in chronic myeloid leukemia cell lines. PMID: 25079219
14. The current knowledge on the mechanisms of action and function of EHMT1, with particular emphasis on their interplay in the regulation of chromatin states and biological processes. PMID: 25365549
15. Haploinsufficiency of EHMT1 caused by either microdeletions at 9q34.3 or intragenic mutations are associated with Kleefstra syndrome. PMID: 25380126
16. PRC2 and G9a/GLP interact physically and functionally. PMID: 24389103
17. Data indicate that Kleefstra syndrome patient carrying a splice-site mutation in EHMT1 inherited from the mother who showed tissue-specific mosaicism. PMID: 23232695
18. Results suggest that GLP may play a significant role in the maintenance of HIV-1 latency by catalyzing dimethylation of H3K9. PMID: 23541084
19. EHMT1 protein binds to nuclear factor-kappaB p50 and represses gene expression. PMID: 22801426
20. Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. PMID: 22726846
21. These results have important implications for the genetic screening of Kleefstra syndrome and for studies of the functional significance of EHMT1. PMID: 21538692
22. the first descriptions of affected parent-to-child transmission of Kleefstra syndrome caused by small interstitial deletions, approximately 200 kb, involving part of the EHMT1 gene. PMID: 21204793
23. MDM2 mediates formation of p53-SUV39H1/EHMT1 complex capable of methylating H3-K9 in vitro and on p53 target promoters in vivo. PMID: 20588255
24. G9a and Glp methylate lysine 373 in the tumor suppressor p53 PMID: 20118233
25. This indicates that haploinsufficiency of Eu-HMTase1 is responsible for the 9q submicroscopic subtelomeric deletion syndrome PMID: 15805155
26. Haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome. PMID: 16826528
27. G9a and GLP contain a new type of methyllysine binding module (the ankyrin repeat domains) and are the first examples of protein (histone) methyltransferases harboring in a single polypeptide the activities that generate and read the same epigenetic mark. PMID: 18264113
28. Normal head and neck tissues have unique epigenetic profiles demarcated by distinct HKMTase gene expression. PMID: 19128641
29. Seq. analysis of EHMT1 in patients with 9qSTD phenotype without deletion id'd six patients with an intragenic EHMT1 mutation. PMID: 19264732
30. We found robust DNA hypomethylation in G9a/GLP knockdown of murine ES cells but a lack of DNA methylation changes in G9a/GLP knockdown human cancer cells; intriguingly, this distinction also extended to markers of global DNA methylation. PMID: 19531572

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HGNC: 24650

OMIM: 607001

KEGG: hsa:79813

STRING: 9606.ENSP00000417980

UniGene: Hs.495511