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

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

  • 中文名稱：
    人EHMT1重組蛋白
  • 貨號(hào)：
    CSB-YP862048HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人EHMT1重組蛋白
  • 貨號(hào)：
    CSB-EP862048HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人EHMT1重組蛋白
  • 貨號(hào)：
    CSB-EP862048HU-B
  • 規(guī)格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    人EHMT1重組蛋白
  • 貨號(hào)：
    CSB-BP862048HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人EHMT1重組蛋白
  • 貨號(hào)：
    CSB-MP862048HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    EHMT1
  • Uniprot No.：
  • 別名：
    bA188C12.1; DKFZp667M072; EHMT 1; EHMT1; EHMT1_HUMAN; Eu-HMTase1; Euchromatic histone lysine N methyltransferase 1; Euchromatic histone methyltransferase 1; Euchromatic histone-lysine N-methyltransferase 1; EUHMTASE1; FLJ12879; FP13812; G9a like protein 1; G9a like protein; G9a-like protein 1; GLP 1; GLP; GLP1; H3 K9 HMTase 5; H3-K9-HMTase 5; Histone H3 K9 methyltransferase 5; Histone H3-K9 methyltransferase 5; Histone lysine N methyltransferase H3 lysine 9 specific 5; Histone-lysine N-methyltransferase EHMT1; KIAA1876; Lysine N methyltransferase 1D; Lysine N-methyltransferase 1D; RP11 188C12.1
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標(biāo)簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng)：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with probable chromatin reader BAZ2B.
  • 基因功能參考文獻(xiàn)：
    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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  • 相關(guān)疾?。?/div>
    Kleefstra syndrome 1 (KLEFS1)
  • 亞細(xì)胞定位：
    Nucleus. Chromosome. Note=Associates with euchromatic regions.
  • 蛋白家族：
    Class V-like SAM-binding methyltransferase superfamily
  • 組織特異性：
    Widely expressed.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 24650

    OMIM: 607001

    KEGG: hsa:79813

    STRING: 9606.ENSP00000417980

    UniGene: Hs.495511