Recombinant Human DNA (cytosine-5)-methyltransferase 3B (DNMT3B), Truncated

Uniprot Id

Q9UBC3

Target Species

Human

Target Name

DNMT3B

Target Full Name

DNA (cytosine-5)-methyltransferase 3B

Target Function

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. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing. In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells.

Target Involvement

Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1); Facioscapulohumeral muscular dystrophy 2 (FSHD2)

Target Subcellular Location

Nucleus.

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, C5-methyltransferase family

Target Tissue Specificity

Ubiquitous; highly expressed in fetal liver, heart, kidney, placenta, and at lower levels in spleen, colon, brain, liver, small intestine, lung, peripheral blood mononuclear cells, and skeletal muscle. Isoform 1 is expressed in all tissues except brain, s

Target Synonyms

Cytosine 5methyltransferase 3B ; DNA ; DNA (cytosine 5) methyltransferase 3 beta; DNA (cytosine 5)-methyltransferase 3B; DNA (cytosine-5)-methyltransferase 3B; DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; DNM3B_HUMAN; Dnmt3b; EC 2.1.1.37; ICF ; ICF1; M.HsaIIIB; MGC124407; RP23-89H14.3

Target Background

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 which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined.