DNMT1
Summary: This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| DNA methyltransferase 1 | MIM:126375 | Ensembl:ENSG00000130816 | HGNC:HGNC:2976 | PA27443 | 19p13.2 |
GO terms in DNMT1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | IEA | GO:0003723 | RNA binding |
| MF | IBA | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | IDA | GO:0003886 | DNA (cytosine-5-)-methyltransferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008270 | zinc ion binding |
| MF | IEA | GO:0008327 | methyl-CpG binding |
| MF | IDA | GO:0009008 | DNA-methyltransferase activity |
| MF | TAS | GO:0009008 | DNA-methyltransferase activity |
| MF | IDA | GO:1990841 | promoter-specific chromatin binding |
| CC | HDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005657 | replication fork |
| CC | IEA | GO:0005721 | pericentric heterochromatin |
| BP | IEA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | TAS | GO:0006306 | DNA methylation |
| BP | IEA | GO:0006325 | chromatin organization |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IMP | GO:0007265 | Ras protein signal transduction |
| BP | IBA | GO:0010216 | maintenance of DNA methylation |
| BP | IDA | GO:0010216 | maintenance of DNA methylation |
| BP | IBA | GO:0010424 | DNA methylation on cytosine within a CG sequence |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0010629 | negative regulation of gene expression |
| BP | IEA | GO:0016458 | gene silencing |
| BP | IEA | GO:0043045 | DNA methylation involved in embryo development |
| BP | TAS | GO:0045814 | negative regulation of gene expression, epigenetic |
| BP | IMP | GO:0051571 | positive regulation of histone H3-K4 methylation |
| BP | IMP | GO:0051573 | negative regulation of histone H3-K9 methylation |
| BP | IEA | GO:0071230 | cellular response to amino acid stimulus |
| BP | IEA | GO:0090116 | C-5 methylation of cytosine |
| BP | IMP | GO:0090309 | positive regulation of methylation-dependent chromatin silencing |
| BP | IMP | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation |
| BP | IMP | GO:1905460 | negative regulation of vascular associated smooth muscle cell apoptotic process |
| BP | IMP | GO:1905931 | negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switching |
Gene expression in normal tissue: DNMT1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DNMT1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2333 | Trans-sulfuration pathway |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2446 | Retinoblastoma (RB) in Cancer |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| smpdb | SMP00033 | Methionine Metabolism |
| smpdb | SMP00177 | Cystathionine Beta-Synthase Deficiency |
| smpdb | SMP00214 | S-Adenosylhomocysteine (SAH) Hydrolase Deficiency |
| smpdb | SMP00221 | Methionine Adenosyltransferase Deficiency |
| smpdb | SMP00222 | Glycine N-methyltransferase Deficiency |
| smpdb | SMP00340 | Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
| smpdb | SMP00341 | Hypermethioninemia |
| smpdb | SMP00570 | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212165 | Epigenetic regulation of gene expression |
| reactome | R-HSA-212300 | PRC2 methylates histones and DNA |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-427413 | NoRC negatively regulates rRNA expression |
| reactome | R-HSA-4655427 | SUMOylation of DNA methylation proteins |
| reactome | R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| reactome | R-HSA-5334118 | DNA methylation |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD498 | GW441756X | 1 |
| iGMDRD446 | LY 2183240 | 6 |
| iGMDRD57 | Chloropentafluorobenzene | 5 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD176 | Decitabine | 1 |
| iGMDRD605 | AZD6482 | 1 |
| iGMDRD330 | BRD4132 | 3 |
| iGMDRD84 | Lovastatin acid | 1 |
| iGMDRD387 | CHIR-99021 | 2 |
| iGMDRD160 | Cis-Platin | 1 |
| iGMDRD116 | CD437 | 2 |
| iGMDRD560 | MK-2206 | 3 |
| iGMDRD67 | PENFLURIDOL | 3 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD246 | NPC26 | 1 |
| iGMDRD524 | ISX-9 | 1 |
| iGMDRD23 | Gossypol | 3 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD220 | fumonisin B1 | 2 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD52 | Rotenone | 1 |
| iGMDRD318 | PAC-1 | 4 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNMT1
CLASSFICATION
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