Aliases for DNMT3A Gene
External Ids for DNMT3A Gene
Previous GeneCards Identifiers for DNMT3A Gene
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 DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for DNMT3A Gene
DNMT3A (DNA (Cytosine-5-)-Methyltransferase 3 Alpha) is a Protein Coding gene. Diseases associated with DNMT3A include tatton-brown-rahman syndrome and tall stature-intellectual disability-facial dysmorphism syndrome. Among its related pathways are MicroRNAs in cancer and Metabolism. GO annotations related to this gene include identical protein binding and methyltransferase activity. An important paralog of this gene is DNMT3L.
UniProtKB/Swiss-Prot for DNMT3A Gene
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Recruited to trimethylated Lys-36 of histone H3 (H3K36me3) sites. Can actively repress transcription through the recruitment of HDAC activity.
Histone methyltransferases (HMTs) are a group of enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to histones. This occurs predominantly on the side chains of lysine and arginine residues in histones H3 and H4.