MBD1

Also known as CXXC3, PCM1, RFT, methyl-CpG binding domain protein 1

Methyl-CpG-binding domain protein 1 is a protein that in humans is encoded by the MBD1 gene. The protein encoded by MBD1 binds to methylated sequences in DNA, and thereby influences transcription. It binds to a variety of methylated sequences, and appears to mediate repression of gene expression. It has been shown to play a role in chromatin modification through interaction with the histone H3K9 methyltransferase SETDB1. H3K9me3 is a repressive modification.

Gene data

MBD1

Name: methyl-CpG binding domain protein 1
Type: protein-coding
Position: 50,266,743–50,281,846 (−)
Aliases: CXXC3, PCM1, RFT
Ensembl: ENSG00000141644
RefSeq RNA: NM_001204136.2, NM_001204137.2, NM_001204138.2, NM_001204139.2, NM_001204140.2
RefSeq protein: NP_001191065.1, NP_001191066.1, NP_001191067.1, NP_001191068.1, NP_001191069.1

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].