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Ask your administrator if you think this is wrong. ======= EHMT1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: EHMT1 * **<color #00a2e8>Official Name</color>**: euchromatic histone lysine methyltransferase 1 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79813|79813]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9H9B1|Q9H9B1]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=EHMT1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20EHMT1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607001|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones 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, Aug 2017]. * **<color #00a2e8>UniProt Summary</color>**: 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. {ECO:0000269|PubMed:12004135, ECO:0000269|PubMed:20118233}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |SET| |Pre-SET| |Ank| |Ank 2| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |histone methyltransferase activity (H3-K27 specific)| |histone methyltransferase activity (H3-K9 specific)| |response to fungicide| |peptidyl-lysine monomethylation| |histone H3-K27 methylation| |peptidyl-lysine dimethylation| |C2H2 zinc finger domain binding| |histone H3-K9 methylation| |histone-lysine N-methyltransferase activity| |histone H3-K9 modification| |protein-lysine N-methyltransferase activity| |negative regulation of G0 to G1 transition| |regulation of G0 to G1 transition| |DNA methylation| |DNA alkylation| |methyltransferase activity| |DNA methylation or demethylation| |p53 binding| |histone lysine methylation| |DNA modification| |peptidyl-lysine methylation| |histone methylation| |positive regulation of cold-induced thermogenesis| |chromosome| |regulation of embryonic development| |protein alkylation| |protein methylation| |regulation of cold-induced thermogenesis| |regulation of signal transduction by p53 class mediator| |macromolecule methylation| |nuclear body| |response to antibiotic| |methylation| |peptidyl-lysine modification| |negative regulation of cell cycle process| |histone modification| |covalent chromatin modification| |response to toxic substance| |negative regulation of cell cycle| |chromatin organization| |DNA metabolic process| |regulation of cell cycle process| |zinc ion binding| |negative regulation of transcription by RNA polymerase II| |peptidyl-amino acid modification| |chromosome organization| |regulation of cell cycle| |negative regulation of transcription, DNA-templated| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |negative regulation of biosynthetic process| |negative regulation of gene expression| |positive regulation of multicellular organismal process| |regulation of intracellular signal transduction| </modal> \\ === CRISPR Data === <button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> ^Screen^Score^ |[[:results:exp467|CAY10603 0.55μM R08 exp467]]|1.79| |[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|1.92| |[[:results:exp175|3-Bromopyruvate 7μM R04 exp175]]|2.44| |[[:results:exp106|UM131593 0.2μM R03 exp106]]|2.64| </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> ^Gene^Correlation^ |[[:human genes:e:ehmt2|EHMT2]]|0.409| </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/726 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/25| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/15| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/14| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/7| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 1858 * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.89 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='EHMT1 Expression in NALM6 Cells: 6.89'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1