UniProt Protein 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. Function as transcriptional corepressor by associating with ZHX1. |
NCBI Summary: | 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. [provided by RefSeq, May 2011] |
UniProt Code: | Q9UBC3 |
NCBI GenInfo Identifier: | 17375667 |
NCBI Gene ID: | 1789 |
NCBI Accession: | Q9UBC3.1 |
UniProt Secondary Accession: | Q9UBC3,Q9UBD4, Q9UJQ5, Q9UKA6, Q9UNE5, A2A2E2, B4DSM8 B4DSU1, E1P5M6, E1P5M7, E7EN63, E9PBF2, |
UniProt Related Accession: | Q9UBC3 |
Molecular Weight: | 81,311 Da |
NCBI Full Name: | DNA (cytosine-5)-methyltransferase 3B |
NCBI Synonym Full Names: | DNA methyltransferase 3 beta |
NCBI Official Symbol: | DNMT3B |
NCBI Official Synonym Symbols: | ICF; ICF1; M.HsaIIIB |
NCBI Protein Information: | DNA (cytosine-5)-methyltransferase 3B |
UniProt Protein Name: | DNA (cytosine-5)-methyltransferase 3B |
UniProt Synonym Protein Names: | DNA methyltransferase HsaIIIB; DNA MTase HsaIIIB; M.HsaIIIB |
Protein Family: | DNA |
UniProt Gene Name: | DNMT3B |
UniProt Entry Name: | DNM3B_HUMAN |