DNMT3L

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DNMT3L
Protein DNMT3L PDB 2PV0.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases DNMT3L, DNA methyltransferase 3 like
External IDs MGI: 1859287 HomoloGene: 8362 GeneCards: DNMT3L
Gene location (Human)
Chromosome 21 (human)
Chr. Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for DNMT3L
Genomic location for DNMT3L
Band 21q22.3 Start 44,246,339 bp[1]
End 44,262,216 bp[1]
RNA expression pattern
PBB GE DNMT3L 220139 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013369
NM_175867

RefSeq (protein)

NP_037501
NP_787063

Location (UCSC) Chr 21: 44.25 – 44.26 Mb Chr 21: 78.04 – 78.06 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

DNA (cytosine-5)-methyltransferase 3-like is an enzyme that in humans is encoded by the DNMT3L gene.[5][6]

Function[edit]

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases. This protein is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, this protein does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and it is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternative splicing results in two transcript variants. An additional splice variant has been described but its biological validity has not been determined.[6]

Interactions[edit]

DNMT3L has been shown to interact with HDAC1.[7][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000142182 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000730 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Aapola U, Kawasaki K, Scott HS, Ollila J, Vihinen M, Heino M, Shintani A, Kawasaki K, Minoshima S, Krohn K, Antonarakis SE, Shimizu N, Kudoh J, Peterson P (August 2000). "Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family". Genomics. 65 (3): 293–8. doi:10.1006/geno.2000.6168. PMID 10857753. 
  6. ^ a b "Entrez Gene: DNMT3L DNA (cytosine-5-)-methyltransferase 3-like". 
  7. ^ Aapola U, Liiv I, Peterson P (2002). "Imprinting regulator DNMT3L is a transcriptional repressor associated with histone deacetylase activity". Nucleic Acids Res. 30 (16): 3602–8. doi:10.1093/nar/gkf474. PMC 134241Freely accessible. PMID 12177302. 
  8. ^ Deplus R, Brenner C, Burgers WA, Putmans P, Kouzarides T, de Launoit Y, Fuks F (September 2002). "Dnmt3L is a transcriptional repressor that recruits histone deacetylase". Nucleic Acids Res. 30 (17): 3831–8. doi:10.1093/nar/gkf509. PMC 137431Freely accessible. PMID 12202768. 

Further reading[edit]