Dnmt1 - DNA methyltransferase (cytosine-5) 1 Gene
Also Known as Dnmt; MCMT; Met1; Cxxc9; MTase; Met-1; Dnmt1o; m.MmuI; MommeD2
Species: Mus musculus
About Dnmt1
This gene has 7 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 21 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 37.3), thymus adult (RPKM 36.6) and 27 other tissues.
Summary
This gene encodes a methyltransferase that preferentially methylates cytosines of CpG residues in hemimethylated DNA to generate fully methylated CpG base pairs during DNA replication. This enzyme plays roles in diverse cellular processes including cell cycle regulation, DNA repair, and telomere maintenance. The encoded protein is composed of an N-terminal domain with a nuclear localization sequence and replication fork-targeting domain, a DNA-binding CXXC domain, two bromo-adjacent homology domains, and a C-terminal catalytic domain. Mouse embryonic stem cells mutant for this gene are viable, but when introduced into the germ line, cause a recessive lethal phenotype with mutant embryos displaying stunted growth and developmental defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Dnmt1 Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001199431.2 | NP_001186360.2 | DNA (cytosine-5)-methyltransferase 1 isoform 1 |
| NM_001199432.2 | NP_001186361.1 | DNA (cytosine-5)-methyltransferase 1 isoform 3 |
| NM_001314011.2 | NP_001300940.1 | DNA (cytosine-5)-methyltransferase 1 isoform 5 |
| NM_001199433.2 | NP_001186362.1 | DNA (cytosine-5)-methyltransferase 1 isoform 4 |
| NM_001404685.2 | NP_001391614.2 | DNA (cytosine-5)-methyltransferase 1 isoform 6 |
| NM_010066.5 | NP_034196.5 | DNA (cytosine-5)-methyltransferase 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA (cytosine-5-)-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
11399088 | MGI |
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
11399088 | MGI |
| enables DNA-methyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
1606615 | MGI |
| enables RNA binding |
IDA
IDA: Inferred from direct assay
|
20573698 | MGI |
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
24105743 | MGI |
| enables lncRNA binding |
IDA
IDA: Inferred from direct assay
|
25686699 | MGI |
| enables methyl-CpG binding |
IDA
IDA: Inferred from direct assay
|
20573698 | MGI |
| enables methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
10615135 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10615135 | MGI |
| enables zinc ion binding |
IDA
IDA: Inferred from direct assay
|
11399088 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in female germ cell nucleus |
IDA
IDA: Inferred from direct assay
|
15063176 | MGI |
| located in germ cell nucleus |
IDA
IDA: Inferred from direct assay
|
15063176 | MGI |
| located in heterochromatin |
IDA
IDA: Inferred from direct assay
|
14519686 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11942627 | MGI |
| located in pericentric heterochromatin |
IDA
IDA: Inferred from direct assay
|
17576694 | MGI |
| located in replication fork |
IDA
IDA: Inferred from direct assay
|
10888872 | MGI |
Dnmt1 Protein Structure
DMAP_binding: pfam06464 (15 - 105)
PRK12678: cl36163 (116 - 294)
DNMT1-RFD: pfam12047 (404 - 539)
zf-CXXC: pfam02008 (647 - 693)
BAH_Dnmt1_I: cd04760 (757 - 880)
BAH_Dnmt1_II: cd04711 (968 - 1103)
Dcm: COG0270 (1140 - 1593)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1620 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA (cytosine-5)-methyltransferase 1 |
|