Dnmt3a è un gene codificato dal simbolo DNMT3A. Altri nomi includono: DNA (cytosine-5)-methyltransferase 3A; DNA methyltransferase HsaIIIA; DNA MTase HsaIIIA. Dnmt3a ha una massa di 101.86kDa, una lunghezza di amminoacidi di 912, ed è implicato in Tatton-Brown-Rahman syndrome.
Offriamo 15 anticorpi contro Dnmt3a, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family.
Modifica post-translazionale
Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription.
Posizione cellulare
Nucleus. Cytoplasm.
Accumulates in the major satellite repeats at pericentric heterochromatin.
