DNMT1 - DNA methyltransferase 1 Gene
Also Known as AIM; DNMT; MCMT; CXXC9; HSN1E; ADCADN; m.HsaI
Species: Homo sapiens
About DNMT1
This gene has 52 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in placenta (RPKM 28.0), lymph node (RPKM 23.6) and 24 other tissues.
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]
DNMT1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001318730.2 | NP_001305659.1 | DNA (cytosine-5)-methyltransferase 1 isoform c |
| NM_001318731.2 | NP_001305660.1 | DNA (cytosine-5)-methyltransferase 1 isoform d |
| NM_001130823.3 | NP_001124295.1 | DNA (cytosine-5)-methyltransferase 1 isoform a |
| NM_001379.4 | NP_001370.1 | DNA (cytosine-5)-methyltransferase 1 isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables DNA (cytosine-5-)-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
21745816 | GOA |
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
18754681 | GOA |
| enables DNA-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
18754681 | GOA |
| enables promoter-specific chromatin binding |
IDA
IDA: Inferred from direct assay
|
24623306 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15161933 | GOA |
DNMT1 Protein Structure
DMAP_binding: DMAP1-binding Domain (18 - 103)
DNMT1-RFD: Cytosine specific DNA methyltransferase replication foci domain (400 - 533)
zf-CXXC: CXXC zinc finger domain (646 - 691)
BAH: BAH domain (755 - 879)
BAH: BAH domain (933 - 1099)
DNA_methylase: C-5 cytosine-specific DNA methylase (1140 - 1596)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1619 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
DNA (cytosine-5)-methyltransferase 1 |
|
|
DNMT1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
DNMT1 | P26358 | SETD7 | Homo sapiens | Q8WTS6 | 21151116 | |
|
Intra
|
DNMT1 | P26358 | SETD7 | Homo sapiens | Q8WTS6 | 21151116 | |
|
Intra
|
DNMT1 | P26358 | SETD7 | Homo sapiens | Q8WTS6 | 19282482 | |
|
Intra
|
DNMT1 | P26358 | UHRF1 | Homo sapiens | Q96T88 | 17934516 | |
|
Intra
|
DNMT1 | P26358 | UHRF1 | Homo sapiens | Q96T88 | 17934516 | |
|
Intra
|
DNMT1 | P26358 | SIRT1 | Homo sapiens | Q96EB6 | 22094255 | |
|
Intra
|
DNMT1 | P26358 | SIRT1 | Homo sapiens | Q96EB6 | 22094255 | |
|
Intra
|
DNMT1 | P26358 | SIRT1 | Homo sapiens | Q96EB6 | 22094255 | |
|
Intra
|
DNMT1 | P26358 | SIRT1 | Homo sapiens | Q96EB6 | 21947282 | |
|
Intra
|
DNMT1 | P26358 | L3MBTL3 | Homo sapiens | Q96JM7 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | L3MBTL3 | Homo sapiens | Q96JM7 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | L3MBTL3 | Homo sapiens | Q96JM7 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | L3MBTL3 | Homo sapiens | Q96JM7 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | AKT1 | Homo sapiens | P31749 | 21151116 | |
|
Intra
|
DNMT1 | P26358 | AKT1 | Homo sapiens | P31749 | 21151116 | |
|
Intra
|
DNMT1 | P26358 | DCAF5 | Homo sapiens | Q96JK2 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | DCAF5 | Homo sapiens | Q96JK2 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | DCAF5 | Homo sapiens | Q96JK2 | 29691401 | |
|
Intra
|
DNMT1 | P26358 | YWHAZ | Homo sapiens | P63104 | 15161933 | |
|
Intra
|
DNMT1 | P26358 | PARP1 | Homo sapiens | P09874 | 27728808 | |
|
Intra
|
DNMT1 | P26358 | PARP1 | Homo sapiens | P09874 | 27728808 | |
|
Intra
|
DNMT1 | P26358 | CTNNB1 | Homo sapiens | P35222 | 25753001 | |
|
Intra
|
DNMT1 | P26358 | CTNNB1 | Homo sapiens | P35222 | 25753001 | |
|
Intra
|
DNMT1 | P26358 | CTNNB1 | Homo sapiens | P35222 | 25753001 | |
|
Intra
|
DNMT1 | P26358 | EZH2 | Homo sapiens | Q15910 | 22094255 | |
|
Intra
|
DNMT1 | P26358 | EZH2 | Homo sapiens | Q15910 | 22094255 | |
|
Intra
|
DNMT1 | P26358 | EZH2 | Homo sapiens | Q15910 | 16357870 | |
|
Intra
|
DNMT1 | P26358 | EED | Homo sapiens | O75530 | 16357870 | |
|
Intra
|
DNMT1 | P26358 | EED | Homo sapiens | O75530 | 22094255 |
DNMT1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80105 | Dnmt1 Antibody (YA781) | WB, IHC-P, FC | Human |
| HY-P80106 | Dnmt1 Antibody (YA476) | WB, ICC/IF, IHC-P | Human, Mouse |
| HY-P84218 | Dnmt1 Antibody (YA3915) | WB, IHC-P, ELISA | Human, Monkey |
| HY-P84218A | Dnmt1 Antibody (YA3915)(PBS only) | WB, IHC-P, ELISA | Human, Monkey |
| HY-P86366 | Dnmt1 Antibody (YA6058) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deficiency Anemia |
|
|
| Cortical Deafness |
|
|
| Autism |
|
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| Nervous System Disease |
|
|
| Lymphosarcoma |
|
|
| Medulloblastoma |
|
|
| Schizophrenia |
|
|
| Systemic Lupus Erythematosus |
|
|
| Pituitary Stalk Interruption Syndrome |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Bladder Cancer |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Myelodysplastic Syndrome |
|
|
| Oligospermia |
|
|
| Hematologic Cancer |
|
|
| Endometrial Cancer |
|
|
| Pancreatic Cancer |
|
|
| Neuropathy, Hereditary Sensory, Type Ie |
|
|
| Fetal Alcohol Spectrum Disorder |
|
|
| Esophageal Cancer |
|
|
| Colorectal Cancer |
|
|
| Fibrosclerosis Of Breast |
|
|
| Heart Disease |
|
|
| Burkitt Lymphoma |
|
|
| Hepatocellular Carcinoma |
|
|
| Dementia |
|
|
| Adult Syndrome |
|
|
| Narcolepsy |
|
|
| Rhabdomyosarcoma |
|
|
| Primary Hyperoxaluria |
|
|
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
|
| Spastic Ataxia |
|
|
| Prostate Cancer |
|
|
| Testicular Cancer |
|
|
| Ovarian Cancer |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Mature T-Cell And Nk-Cell Lymphoma |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Hyperoxaluria, Primary, Type I |
|
|
| Leukemia, Acute Myeloid |
|
|
| Leukemia, Chronic Myeloid |
|
|
| Neuropathy |
|
|
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
|
| Meningioma, Familial |
|
|
| Hereditary Sensory Neuropathy |
|
|
| Choline Deficiency Disease |
|
|
| Breast Cancer |
|
|
| Lung Cancer |
|
|
| Retinoblastoma |
|
|
| Gastric Cancer |
|
|
| Alpha-Thalassemia |
|
|
| Tetralogy Of Fallot |
|
|
| Chronic Myelomonocytic Leukemia |
|
|
| Bipolar Disorder |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | DNMT1 | RGD | RGD:620979 |
| Bos taurus | DNMT1 | VGNC | VGNC:28145 |
| Canis familiaris | DNMT1 | VGNC | VGNC:108242 |
| Mus musculus | DNMT1 | MGD | MGI:94912 |
| Felis catus | DNMT1 | VGNC | VGNC:61561 |
| Macaca mulatta | DNMT1 | VGNC | VGNC:71958 |
| Others | DNMT1 | NCBI |