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 |
|---|---|---|---|---|---|
OMIM IDMIM:126375 Ensembl IDEnsembl:ENSG00000130816 HGNC IDHGNC:HGNC:2976 PHARMGKB IDPA27443 Map Location19p13.2 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DNMT1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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