DNMT1
Sign in to saveAlso known as ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI, DNA (cytosine-5-)-methyltransferase 1
DNA (cytosine-5)-methyltransferase 1 (Dnmt1) is an enzyme that catalyzes the transfer of methyl groups to specific CpG sites in DNA, a process called DNA methylation. In humans, it is encoded by the DNMT1 gene. Dnmt1 forms part of the family of DNA methyltransferase enzymes, which consists primarily of DNMT1, DNMT3A, and DNMT3B.
Gene data
DNMT1- Name
- DNA methyltransferase 1
- Type
- protein-coding
- Position
- 10,133,342–10,231,286 (−)
- Aliases
- ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI
- Ensembl
- ENSG00000130816
- RefSeq RNA
- NM_001130823.3, NM_001318730.2, NM_001318731.2, NM_001379.4
- RefSeq protein
- NP_001124295.1, NP_001305659.1, NP_001305660.1, NP_001370.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
DNA methyltransferase 1
- Symbol
- DNMT1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:10,133,342-10,231,286
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 124071
- exact match
- identifiers.org/ncbigene/1786
- genomic end
- 10341962
- genomic start
- 10133342
- cytogenetic location
- 19p13.2
Sources (9)
via Wikidata · CC0
~3 min read
Article
8 sectionsContents
- Function
- See also
- Interactions
- Model organisms
- Clinical significance
- References
- Further reading
- External links
DNA (cytosine-5)-methyltransferase 1 (Dnmt1) is an enzyme that catalyzes the transfer of methyl groups to specific CpG sites in DNA, a process called DNA methylation. In humans, it is encoded by the DNMT1 gene. Dnmt1 forms part of the family of DNA methyltransferase enzymes, which consists primarily of DNMT1, DNMT3A, and DNMT3B.
== Function ==