Description
Product Characteristics:
DNA methylation, or the addition of methyl groups to cytosine bases in the dinucleotide CpG, is imperative to proper development and regulates gene expression. The methylation pattern involves the enzymatic processes of methylation and demethylation. The demethylation enzyme was recently found to be a mammalian protein, which exhibits demethylase activity associated to a methyl-CpG-binding domain (MBD). The enzyme is able to revert methylated cytosine bases to cytosines within the particular dinucleotide sequence mdCpdG by catalyzing the cleaving of the methyl group as methanol. MeCP2 and MBD1 (PCM1) are first found to repress transcription by binding specifically to methylated DNA. MBD2 and MBD4 (also known as MED1) were later found to colocalize with foci of heavily methylated satellite DNA and believed to mediate the biological functions of the methylation signal. Surprisingly, MBD3 does not bind methylated DNA both in vivo and in vitro. MBD1, MBD2, MBD3, and MBD4 are found to be expressed in somatic tissues, but the expression of MBD1 and MBD2 is reduced or absent in embryonic stem cells, which are known to be deficient in MeCP1 activity. MBD4 have homology to bacterial base excision repair DNA N-glycosylases/lyases. In some microsatellite unstable tumors MBD4 is mutated at an exonic polynucleotide tract.
Subcellular location: Nucleus
Synonyms: CXXC 3, CXXC3, MBD 1, MBD1, MECP1 COMPLEX, Methyl CpG binding domain protein 1, Methyl CpG binding domain protein 1 isoform PCM1, Methyl CpG binding protein MBD1, Methyl CpG binding protein splice variant 1, Methyl CpG binding protein splice variant 2, Methyl CpG binding protein splice variant 3, Methyl CpG binding protein splice variant 4, PCM 1, PCM1, Protein containing methyl CpG binding domain 1, Regulator of fibroblast growth factor 2 FGF 2 transcription, RFT, The regulator of fibroblast growth factor 2FGF 2 transcription.
Target Information: The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions\, several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides\, transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]