EHMT1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| euchromatic histone lysine methyltransferase 1 | MIM:607001 | Ensembl:ENSG00000181090 | HGNC:HGNC:24650 | PA134941393 | 9q34.3 |
GO terms in EHMT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0002039 | p53 binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0008168 | methyltransferase activity |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IDA | GO:0016279 | protein-lysine N-methyltransferase activity |
| MF | IDA | GO:0018024 | histone-lysine N-methyltransferase activity |
| MF | ISS | GO:0046974 | histone methyltransferase activity (H3-K9 specific) |
| MF | ISS | GO:0046976 | histone methyltransferase activity (H3-K27 specific) |
| MF | IEA | GO:0070742 | C2H2 zinc finger domain binding |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0006306 | DNA methylation |
| BP | IDA | GO:0006325 | chromatin organization |
| BP | IDA | GO:0016571 | histone methylation |
| BP | ISS | GO:0018026 | peptidyl-lysine monomethylation |
| BP | IDA | GO:0018027 | peptidyl-lysine dimethylation |
| BP | ISS | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | ISS | GO:0045995 | regulation of embryonic development |
| BP | IEA | GO:0051567 | histone H3-K9 methylation |
| BP | IEA | GO:0060992 | response to fungicide |
| BP | TAS | GO:0070317 | negative regulation of G0 to G1 transition |
| BP | IEA | GO:0070734 | histone H3-K27 methylation |
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | ISS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005694 | chromosome |
| CC | IDA | GO:0016604 | nuclear body |
Gene expression in normal tissue: EHMT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EHMT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2004 | miR-targeted genes in lymphocytes - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP2369 | Histone Modifications |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa04211 | Longevity regulating pathway - Homo sapiens (human) |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2559582 | Senescence-Associated Secretory Phenotype (SASP) |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-6804760 | Regulation of TP53 Activity through Methylation |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8953750 | Transcriptional Regulation by E2F6 |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EHMT1
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