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 |
|---|---|---|---|---|---|
OMIM IDMIM:607001 Ensembl IDEnsembl:ENSG00000181090 HGNC IDHGNC:HGNC:24650 PHARMGKB IDPA134941393 Map Location9q34.3 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EHMT1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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