Dnmt3a ist ein Gen, das durch das Symbol DNMT3A kodiert wird. Andere Namen sind: DNA (cytosine-5)-methyltransferase 3A; DNA methyltransferase HsaIIIA; DNA MTase HsaIIIA. Dnmt3a hat eine Masse von 101.86kDa, eine Aminosäurelänge von 912, und ist an Tatton-Brown-Rahman syndrome beteiligt.
Wir bieten 15 antikörper gegen Dnmt3a, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Highly expressed in fetal tissues, skeletal muscle, heart, peripheral blood mononuclear cells, kidney, and at lower levels in placenta, brain, liver, colon, spleen, small intestine and lung.
Rolle bei Krankheiten
Tatton-Brown-Rahman syndrome: An overgrowth syndrome characterized by a distinctive facial appearance, tall stature and intellectual disability. Facial gestalt is characterized by a round face, heavy horizontal eyebrows and narrow palpebral fissures. Less common features include atrial septal defects, seizures, umbilical hernia, and scoliosis.
Sequenzähnlichkeiten
Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Posttranslationale Modifikation
Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription.
Zellort
Nucleus. Cytoplasm.
Accumulates in the major satellite repeats at pericentric heterochromatin.
