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DNMT1

Chr 19p13.2

DNA methyltransferase 1

Aliases:
MCMT, CXXC9
MANE:
ENST00000359526.9
OMIM: 126375 ↗NCBI: 1786 ↗Ensembl ↗

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Hereditary ataxia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Kleine-Levin syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

  • autosomal dominant cerebellar ataxia, deafness and narcolepsy

    0.81

  • hereditary sensory neuropathy-deafness-dementia syndrome

    0.78

  • acute myeloid leukemia

    0.62

  • myelodysplastic syndrome

    0.62

  • cancer

    0.61

  • chronic myelomonocytic leukemia

    0.60

  • myelodysplastic syndrome with excess blasts

    0.58

  • neoplasm

    0.52

  • anemia

    0.50

  • myeloid leukemia

    0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

DNA (cytosine-5)-methyltransferase 1

DNA methyltransferase that methylates CpG residues (PubMed:17200670, PubMed:18754681, PubMed:21745816, PubMed:26070743). Preferentially methylates hemimethylated DNA (PubMed:21745816, PubMed:26070743). Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance (PubMed:17200670, PubMed:21745816). Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication (PubMed:21745816). It is responsible for maintaining methylation patterns established in development (PubMed:21745816). DNA methylation is coordinated with methylation of histones (PubMed:16357870). Mediates transcriptional repression by direct binding to HDAC2 (PubMed:10888872). In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9 (PubMed:18413740). Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306)

Diseases associated with DNMT1

Curated MONDO disease pages that list DNMT1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.