SETDB1
Summary: This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604396 Ensembl IDEnsembl:ENSG00000143379 HGNC IDHGNC:HGNC:10761 PHARMGKB IDPA35679 Map Location1q21.3 | |||||
GO terms in SETDB1
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IMP | GO:0007265 | Ras protein signal transduction |
| BP | IEA | GO:0033273 | response to vitamin |
| BP | IEA | GO:0034968 | histone lysine methylation |
| BP | IEA | GO:0045471 | response to ethanol |
| BP | IMP | GO:0090309 | positive regulation of methylation-dependent chromatin silencing |
Gene expression in normal tissue: SETDB1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SETDB1
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-3214841 | PKMTs methylate histone lysines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-4839726 | Chromatin organization |
| pid | wnt_noncanonical_pathway | Noncanonical Wnt signaling pathway |
| kegg | hsa00310 | Lysine degradation - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SETDB1
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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