DNMT1 DNA (cytosine-5-)-methyltransferase 1 [Homo sapiens (human)]
| Gene Symbol | DNMT1 |
| Entrez Gene ID | 1786 |
| Full Name | DNA (cytosine-5-)-methyltransferase 1 |
| Synonyms | AIM, CXXC9, DNMT, FLJ16293, MCMT, MGC104992 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
19 19p13.2 |
| Summary | DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. |
| Disorder | MIM: 126375 |
| mRNA | NM_001379, 195546895 |
| Protein | NP_001370, 4503351 |
| Product | DNA (cytosine-5)-methyltransferase 1 isoform b |
| RefSeq Status | REVIEWED |
| mRNA | NM_001130823, 195927036 |
| Protein | NP_001124295, 195927037 |
| Product | DNA (cytosine-5)-methyltransferase 1 isoform a |
| RefSeq Status | REVIEWED |
| hsa01100 | Metabolic pathways |
| hsa00270 | Cysteine and methionine metabolism |
WikiPathways
| WP241 | One Carbon Metabolism |
Pathway Interaction Database
| rb_1pathway | Regulation of retinoblastoma protein |
| Homo sapiens (human) | DNMT1 | NP_001124295.1 |
| Pan troglodytes (chimpanzee) | DNMT1 | XP_001163764.1 |
| Canis lupus familiaris (dog) | DNMT1 | XP_533919.2 |
| Bos taurus (cattle) | DNMT1 | NP_872592.1 |
| Mus musculus (house mouse) | Dnmt1 | NP_034196.3 |
| Rattus norvegicus (Norway rat) | Dnmt1 | NP_445806.1 |
| ID | Name | Evidence |
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | TAS |
| GO:0006306 | DNA methylation | TAS |
| GO:0010216 | maintenance of DNA methylation | IDA |
| GO:0010628 | positive regulation of gene expression | IMP |
| GO:0016458 | gene silencing | IEA |
| GO:0016568 | chromatin modification | IEA |
| GO:0042127 | regulation of cell proliferation | IEA |
| GO:0051571 | positive regulation of histone H3-K4 methylation | IMP |
| GO:0051573 | negative regulation of histone H3-K9 methylation | IMP |
| GO:0090116 | C-5 methylation of cytosine | TAS |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
| GO:0005657 | replication fork | IEA |
| GO:0005721 | centromeric heterochromatin | IEA |
Function
| ID | Name | Evidence |
| GO:0003677 | DNA binding | IDA |
| GO:0003886 | DNA (cytosine-5-)-methyltransferase activity | IEA |
| GO:0005515 | protein binding | IPI |
| GO:0008134 | transcription factor binding | IEA |
| GO:0008270 | zinc ion binding | IEA |
| GO:0009008 | DNA-methyltransferase activity | IDA |
| GO:0016740 | transferase activity | IEA |
| GO:0046872 | metal ion binding | IEA |
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