DNMT3L

DNMT3L
Identifiers
Aliases	DNMT3L, DNA methyltransferase 3 like
External IDs	OMIM: 606588; MGI: 1859287; HomoloGene: 8362; GeneCards: DNMT3L; OMA:DNMT3L - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2PV0, 2PVC, 2QRV, 4U7P, 4U7T
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.3 Start 44,246,339 bp End 44,262,216 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 C1|10 39.72 cM Start 77,877,781 bp End 77,899,456 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle liver right lobe of liver human kidney gonad lymph node renal cortex granulocyte tonsil mucosa of transverse colon Top expressed in transitional epithelium of urinary bladder primary oocyte blastocyst zygote morula secondary oocyte Gonadal ridge spermatid embryo embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function enzyme binding enzyme regulator activity enzyme activator activity protein binding metal ion binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytosol nucleus ESC/E(Z) complex Biological process regulation of gene expression by genetic imprinting DNA methylation regulation of catalytic activity negative regulation of transcription, DNA-templated positive regulation of catalytic activity male meiosis I spermatogenesis cell differentiation DNA methylation on cytosine DNA methylation involved in gamete generation stem cell differentiation negative regulation of DNA methylation positive regulation of DNA methylation regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29947 54427 Ensembl ENSG00000142182 ENSMUSG00000000730 UniProt Q9UJW3 Q9CWR8 RefSeq (mRNA) NM_013369 NM_175867 NM_001081695 NM_001284197 NM_001284198 NM_001284199 NM_001284200 NM_019448 RefSeq (protein) NP_037501 NP_787063 NP_001075164 NP_001271126 NP_001271127 NP_001271128 NP_001271129 NP_062321 Location (UCSC) Chr 21: 44.25 – 44.26 Mb Chr 10: 77.88 – 77.9 Mb PubMed search
Wikidata
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DNA (cytosine-5)-methyltransferase 3-like is an enzyme that in humans is encoded by the DNMT3L gene.

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.

Interactions

DNMT3L has been shown to interact with HDAC1.

Further reading

• Hattori M, Fujiyama A, Taylor TD, Taylor TD, Watanabe H, Yada T, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
• Hata K, Okano M, Lei H, Li E (2002). "Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice". Development. 129 (8): 1983–93. doi:10.1242/dev.129.8.1983. PMID 11934864.
• Burgers WA, Fuks F, Kouzarides T (2002). "DNA methyltransferases get connected to chromatin". Trends Genet. 18 (6): 275–7. doi:10.1016/S0168-9525(02)02667-7. PMID 12044346.
• 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.
• Deplus R, Brenner C, Burgers WA, Putmans P, Kouzarides T, De Launoit Y, et al. (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.
• Kierszenbaum AL (2003). "Genomic imprinting and epigenetic reprogramming: unearthing the garden of forking paths". Mol. Reprod. Dev. 63 (3): 269–72. doi:10.1002/mrd.90011. PMID 12237941. S2CID 27224099.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chedin F, Lieber MR, Hsieh CL (2003). "The DNA methyltransferase-like protein DNMT3L stimulates de novo methylation by Dnmt3a". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16916–21. Bibcode:2002PNAS...9916916C. doi:10.1073/pnas.262443999. PMC 139244. PMID 12481029.
• Huntriss J, Hinkins M, Oliver B, Harris S, Beazley J, Rutherford A, et al. (2004). "Expression of mRNAs for DNA methyltransferases and methyl-CpG-binding proteins in the human female germ line, preimplantation embryos, and embryonic stem cells". Mol. Reprod. Dev. 67 (3): 323–36. doi:10.1002/mrd.20030. PMID 14735494. S2CID 39440312.
• Suetake I, Shinozaki F, Miyagawa J, Takeshima H, Tajima S (2004). "DNMT3L stimulates the DNA methylation activity of Dnmt3a and Dnmt3b through a direct interaction". J. Biol. Chem. 279 (26): 27816–23. doi:10.1074/jbc.M400181200. PMID 15105426.
• Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Hata K, Kusumi M, Yokomine T, Li E, Sasaki H (2006). "Meiotic and epigenetic aberrations in Dnmt3L-deficient male germ cells". Mol. Reprod. Dev. 73 (1): 116–22. doi:10.1002/mrd.20387. PMID 16211598. S2CID 46442710.
• Xie ZH, Huang YN, Chen ZX, Riggs AD, Ding JP, Gowher H, et al. (2006). "Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L". Hum. Mol. Genet. 15 (9): 1375–85. doi:10.1093/hmg/ddl059. PMID 16543361.
• Yokomine T, Hata K, Tsudzuki M, Sasaki H (2006). "Evolution of the vertebrate DNMT3 gene family: a possible link between existence of DNMT3L and genomic imprinting". Cytogenet. Genome Res. 113 (1–4): 75–80. doi:10.1159/000090817. PMID 16575165. S2CID 20182138.
• Hu YH, Warnatz HJ, Vanhecke D, Wagner F, Fiebitz A, Thamm S, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.
• Kareta MS, Botello ZM, Ennis JJ, Chou C, Chédin F (2006). "Reconstitution and mechanism of the stimulation of de novo methylation by human DNMT3L". J. Biol. Chem. 281 (36): 25893–902. doi:10.1074/jbc.M603140200. PMID 16829525.
• Ooi SK, Qiu C, Bernstein E, Li K, Jia D, Yang Z, et al. (2007). "DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methylation of DNA". Nature. 448 (7154): 714–7. Bibcode:2007Natur.448..714O. doi:10.1038/nature05987. PMC 2650820. PMID 17687327.
• Jia D, Jurkowska RZ, Zhang X, Jeltsch A, Cheng X (2007). "Structure of Dnmt3a bound to Dnmt3L suggests a model for de novo DNA methylation". Nature. 449 (7159): 248–51. Bibcode:2007Natur.449..248J. doi:10.1038/nature06146. PMC 2712830. PMID 17713477.