Human euchromatic histone-lysine N-methyltransferase 1 ELISA Kit | EHMT1 elisa kit
Human Histone-lysine N-methyltransferase EHMT1, EHMT1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Uniprot Description
EHMT1: 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. Defects in EHMT1 are the cause of chromosome 9q subtelomeric deletion syndrome (9q- syndrome). Common features seen in these patients are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems. Belongs to the histone-lysine methyltransferase family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 2.1.1.43; Amino Acid Metabolism - lysine degradation; Methyltransferase; Methyltransferase, protein lysine
Chromosomal Location of Human Ortholog: 9q34.3
Cellular Component: nucleoplasm; cytoplasm; plasma membrane; chromosome; nucleus
Molecular Function: methyltransferase activity; protein binding; zinc ion binding; p53 binding; histone lysine N-methyltransferase activity (H3-K9 specific); protein-lysine N-methyltransferase activity; histone-lysine N-methyltransferase activity; histone lysine N-methyltransferase activity (H3-K27 specific)
Biological Process: histone methylation; establishment and/or maintenance of chromatin architecture; embryonic development; peptidyl-lysine di-methylation; peptidyl-lysine mono-methylation; DNA methylation; chromatin modification; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; histone H3-K9 methylation
Disease: Kleefstra Syndrome
Research Articles on EHMT1
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Product Notes
The Human EHMT1 ehmt1 (Catalog #AAA9319098) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9319098 ELISA Kit recognizes Human EHMT1. It is sometimes possible for the material contained within the vial of "euchromatic histone-lysine N-methyltransferase 1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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