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DNMT1 - DNA (cytosine-5-)-methyltransferase 1
Entrez Gene Name: DNA (cytosine-5-)-methyltransferase 1
Synonyms: AIM, CXXC9, Cytosine 5-methyltransferase, DMT, DNA METHYLTRANSFERASE 1, DNA MTASE, DNA MTase HsaI, DNMT, DNMT1, Dnmt1o, FLJ16293, MCMT, Met-1, MGC104992, MommeD2, MTase

Gene Summary

  • Human (1786): 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]
  • Rat (84350): methylates genomic DNA; involved in processes of gene inactivation, chromatin organization, X chromosome inactivation and genomic imprinting [RGD]

Cell Regulation

Regulates:
  • CDKN2A
  • IGF2
  • Histone h3
View all 80 in IPA
Regulated by:
  • decitabine
  • DNMT1
  • TP53
View all 74 in IPA
Binds:
  • PCNA
  • HDAC1
  • DMAP1
View all 46 in IPA
Role in cell:
  • transformation
  • proliferation
  • morphology
View all 17 in IPA
Disease:
  • neoplasia
  • cancer
  • tumorigenesis
View all 13 in IPA

Biological Process

DNA methylation, DNA methylation on cytosine within a CG sequence, gene silencing, maintenance of DNA methylation, negative regulation of transcription from RNA polymerase II promoter, negative regulation of transcription, DNA-dependent, regulation of cell proliferation, regulation of gene expression, regulation of transcription, DNA-dependent, S-adenosylhomocysteine metabolic process, S-adenosylmethioninamine metabolic process, S-adenosylmethionine metabolic process, transcription

Cellular Components

cytoplasm, heterochromatin, nucleus, protein complex, replication fork

Literature References

  • 17470536Smallwood A, Estève PO, Pradhan S, Carey M. Functional cooperation between HP1 and DNMT1 mediates gene silencing.Genes Dev 2007 May 15;21(10):1169-78
  • 12145218Kim GD, Ni J, Kelesoglu N, Roberts RJ, Pradhan S. Co-operation and communication between the human maintenance and de novo DNA (cytosine-5) methyltransferases.EMBO J 2002 Aug 1;21(15):4183-95
  • 11847125Pradhan S, Kim GD. The retinoblastoma gene product interacts with maintenance human DNA (cytosine-5) methyltransferase and modulates its activity.EMBO J 2002 Feb 15;21(4):779-88
  • View 1108 categorized literature findings and their references in IPA

Molecular Functions

catalytic activity, DNA (cytosine-5-)-methyltransferase activity, DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates, DNA binding, double-stranded DNA binding, metal ion binding, methyl-CpG binding, methyltransferase activity, protein binding, protein domain specific binding, S-adenosylmethionine-dependent methyltransferase activity, transcription factor binding, transcription repressor activity, transferase activity, unmethylated CpG binding, zinc ion binding

Protein Domains

BAH domain, CXXC zinc finger, DNA (cytosine-5-)-methyltransferase, DNA binding, double-stranded DNA binding, enzyme, methyl-CpG binding, Methyltransferase, protein binding, protein domain specific binding, S-adenosylmethionine-dependent methyltransferase, transcriptional repressor, unmethylated CpG binding, zinc ion binding

Subcellular Locations

cytoplasm, DNA replication foci, nuclear foci, nuclear fraction, nuclear matrix, nucleolar fraction, nucleoli, nucleoplasm, nucleus