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Mouse Anti-EHMT1 Recombinant Antibody (B0422) (V2LY-0425-LY1609)


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Summary

Host Animal
Mouse
Specificity
Mouse, Human
Clone
B0422
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
EHMT1 (aa1-100) partial recombinant protein.
Host Species
Mouse
Specificity
Mouse, Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal Antibody

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Euchromatic Histone Lysine Methyltransferase 1
Entrez Gene ID
Human79813
Mouse77683
UniProt ID
HumanP18146
MouseP08046
Research Area
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 (By similarity).
Biological Process
Chromatin organization Source: UniProtKB
DNA methylation Source: UniProtKB
Histone methylation Source: UniProtKB
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Peptidyl-lysine dimethylation Source: UniProtKB
Peptidyl-lysine monomethylation Source: UniProtKB
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Regulation of embryonic development Source: UniProtKB
Response to fungicide Source: Ensembl
Cellular Location
Nucleus; Chromosome. Associates with euchromatic regions.
Involvement in disease
Kleefstra syndrome 1 (KLEFS1):
The disease is caused by variants affecting the gene represented in this entry. The syndrome can be either caused by intragenic EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene or by a submicroscopic 9q34.3 deletion. Although it is not known if and to what extent other genes in the 9q34.3 region contribute to the syndrome observed in deletion cases, EHMT1 seems to be the major determinant of the core disease phenotype (PubMed:19264732). A form of Kleefstra syndrome, an autosomal dominant disease characterized by variable mental retardation, psychomotor developmental delay, seizures, behavioral abnormalities, and facial dysmorphisms. KLEFS1 patients additionally manifest brachy(micro)cephaly, congenital heart defects, and urogenital defects.
More Infomation

Nachiyappan, A., Gupta, N., & Taneja, R. (2022). EHMT1/EHMT2 in EMT, cancer stemness and drug resistance: emerging evidence and mechanisms. The FEBS Journal, 289(5), 1329-1351.

Ang, G. C. K., Gupta, A., Surana, U., Yap, S. X. L., & Taneja, R. (2022). Potential Therapeutics Targeting Upstream Regulators and Interactors of EHMT1/2. Cancers, 14(12), 2855.

Nachiyappan, A., Soon, J. L. J., Lim, H. J., Lee, V. K., & Taneja, R. (2022). EHMT1 promotes tumor progression and maintains stemness by regulating ALDH1A1 expression in alveolar rhabdomyosarcoma. The Journal of Pathology, 256(3), 349-362.

Huang, Q., Xiong, H., Tao, Z., Yue, F., & Xiao, N. (2021). Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects. European Journal of Medical Genetics, 64(9), 104289.

Lee, J., Kim, K., Ryu, T. Y., Jung, C. R., Lee, M. S., Lim, J. H., ... & Cho, H. S. (2021). EHMT1 knockdown induces apoptosis and cell cycle arrest in lung cancer cells by increasing CDKN1A expression. Molecular oncology, 15(11), 2989-3002.

Wang, Z. J., Zhong, P., Ma, K., Seo, J. S., Yang, F., Hu, Z., ... & Yan, Z. (2020). Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice. Molecular psychiatry, 25(10), 2517-2533.

Meng, T. G., Zhou, Q., Ma, X. S., Liu, X. Y., Meng, Q. R., Huang, X. J., ... & Sun, Q. Y. (2020). PRC2 and EHMT1 regulate H3K27me2 and H3K27me3 establishment across the zygote genome. Nature communications, 11(1), 1-12.

Bonati, M. T., Castronovo, C., Sironi, A., Zimbalatti, D., Bestetti, I., Crippa, M., ... & Finelli, P. (2019). 9q34. 3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. neurogenetics, 20(3), 145-154.

Watson, Z. L., Yamamoto, T. M., McMellen, A., Kim, H., Hughes, C. J., Wheeler, L. J., ... & Bitler, B. G. (2019). Histone methyltransferases EHMT1 and EHMT2 (GLP/G9A) maintain PARP inhibitor resistance in high-grade serous ovarian carcinoma. Clinical epigenetics, 11(1), 1-16.

Zheng, Y., Liu, A., Wang, Z. J., Cao, Q., Wang, W., Lin, L., ... & Yan, Z. (2019). Inhibition of EHMT1/2 rescues synaptic and cognitive functions for Alzheimer’s disease. Brain, 142(3), 787-807.

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For research use only. Not intended for any clinical use.

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