Version 5.4
Homo sapiens Gene: DNMT1
Summary
InnateDB Gene IDBG-26537.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNMT1
Gene Name DNA (cytosine-5-)-methyltransferase 1
Synonyms ADCADN; AIM; CXXC9; DNMT; HSN1E; MCMT
Species Homo sapiens
Ensembl Gene ENSG00000130816
Encoded Proteins
IDBP-26539
DNA (cytosine-5-)-methyltransferase 1
IDBP-26541
DNA (cytosine-5-)-methyltransferase 1
IDBP-586498
DNA (cytosine-5-)-methyltransferase 1
IDBP-765292
IDBP-764288
IDBP-765956
IDBP-764271
IDBP-764102
IDBP-765873
IDBP-760164
IDBP-761449
IDBP-765081
IDBP-764379
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Aug 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:10133345-10231286
Strand Reverse strand
Band p13.2
Transcripts
ENST00000359526 ENSP00000352516
ENST00000340748 ENSP00000345739
ENST00000540357 ENSP00000440457
ENST00000589351
ENST00000588952 ENSP00000467050
ENST00000589091
ENST00000586988 ENSP00000464958
ENST00000592054 ENSP00000468359
ENST00000590619 ENSP00000468062
ENST00000585920
ENST00000586799 ENSP00000467260
ENST00000592342 ENSP00000465993
ENST00000589294
ENST00000592705 ENSP00000466657
ENST00000586086
ENST00000587604
ENST00000586588
ENST00000591764
ENST00000591239
ENST00000593049
ENST00000589349
ENST00000591798
ENST00000585843
ENST00000586667
ENST00000588118 ENSP00000465223
ENST00000587197
ENST00000588913 ENSP00000467125
ENST00000589538
ENST00000586800 ENSP00000465555
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 122 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.
Experimentally validated
Total 125 [view]
Protein-Protein 111 [view]
Protein-DNA 13 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 14 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003723 RNA binding
GO:0003886 DNA (cytosine-5-)-methyltransferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008168 methyltransferase activity
GO:0008270 zinc ion binding
GO:0008327 methyl-CpG binding
GO:0009008 DNA-methyltransferase activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006306 DNA methylation
GO:0006351 transcription, DNA-templated
GO:0010216 maintenance of DNA methylation
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0016458 gene silencing
GO:0016568 chromatin modification
GO:0042127 regulation of cell proliferation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051571 positive regulation of histone H3-K4 methylation
GO:0051573 negative regulation of histone H3-K9 methylation
GO:0071230 cellular response to amino acid stimulus
GO:0090116 C-5 methylation of cytosine
Cellular Component
GO:0000792 heterochromatin
GO:0005634 nucleus
GO:0005657 replication fork
GO:0005721 centromeric heterochromatin
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004099
View Gene Order
ENSBTAG00000002736
Not yet available
Pathways
NETPATH
REACTOME
REACT_200808
PRC2 methylates histones and DNA pathway
REACT_200857
Epigenetic regulation of gene expression pathway
REACT_200856
NoRC negatively regulates rRNA expression pathway
REACT_267652
DNA methylation pathway
REACT_71
Gene Expression pathway
REACT_200834
Negative epigenetic regulation of rRNA expression pathway
KEGG
hsa00270
Cysteine and methionine metabolism pathway
INOH
PID NCI
rb_1pathway
Regulation of retinoblastoma protein
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.202672
RefSeq NM_001130823 NM_001379 XM_006722681
HUGO
OMIM
CCDS CCDS12228 CCDS45958
HPRD 00532
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca