Human Gene DNMT3L (ENST00000270172.7) from GENCODE V44
Description: Homo sapiens DNA methyltransferase 3 like (DNMT3L), transcript variant 1, mRNA. (from RefSeq NM_013369) RefSeq Summary (NM_013369): 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, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]. Gencode Transcript: ENST00000270172.7 Gencode Gene: ENSG00000142182.9 Transcript (Including UTRs) Position: hg38 chr21:44,246,339-44,262,216 Size: 15,878 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr21:44,246,397-44,261,259 Size: 14,863 Coding Exon Count: 11
ID:DNM3L_HUMAN DESCRIPTION: RecName: Full=DNA (cytosine-5)-methyltransferase 3-like; FUNCTION: Catalytically inactive regulatory factor of DNA methyltransferases. It is essential for the function of DNMT3A and DNMT3B. Activates DNMT3A and DNMT3B by binding to their catalytic domain. Accelerates the binding of DNA and AdoMet to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases. Recognizes unmethylated histone H3 lysine 4 (H3K4) and induces de novo DNA methylation by recruitment or activation of DNMT3. SUBUNIT: Homodimer. Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L). Interacts with histone H3 (via N-terminus). INTERACTION: Q13547:HDAC1; NbExp=3; IntAct=EBI-740967, EBI-301834; SUBCELLULAR LOCATION: Nucleus (Probable). TISSUE SPECIFICITY: Expressed at low levels in several tissues including testis, ovary, and thymus. MISCELLANEOUS: Interaction with histone H3 is strongly inhibited by methylation at lysine 4 (H3K4me). SIMILARITY: Belongs to the C5-methyltransferase family. SIMILARITY: Contains 1 ADD domain. SIMILARITY: Contains 1 GATA-type zinc finger. SIMILARITY: Contains 1 PHD-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UJW3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008047 enzyme activator activity GO:0019899 enzyme binding GO:0030234 enzyme regulator activity GO:0046872 metal ion binding
Biological Process: GO:0006306 DNA methylation GO:0006349 regulation of gene expression by genetic imprinting GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007141 male meiosis I GO:0007283 spermatogenesis GO:0030154 cell differentiation GO:0032776 DNA methylation on cytosine GO:0043046 DNA methylation involved in gamete generation GO:0043085 positive regulation of catalytic activity GO:0045892 negative regulation of transcription, DNA-templated GO:0048863 stem cell differentiation GO:0050790 regulation of catalytic activity GO:1905642 negative regulation of DNA methylation GO:1905643 positive regulation of DNA methylation