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DNMT3L

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DNMT3L
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDNMT3L, DNA methyltransferase 3 like
External IDsOMIM: 606588; MGI: 1859287; HomoloGene: 8362; GeneCards: DNMT3L; OMA:DNMT3L - orthologs
Orthologs
SpeciesHumanMouse
Entrez

29947

54427

Ensembl

ENSG00000142182

ENSMUSG00000000730

UniProt

Q9UJW3

Q9CWR8

RefSeq (mRNA)

NM_013369
NM_175867

RefSeq (protein)

NP_037501
NP_787063

Location (UCSC)Chr 21: 44.25 – 44.26 MbChr 10: 77.88 – 77.9 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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

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

References

  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:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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 134241. 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 137431. PMID 12202768.

Further reading


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