DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain. Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Five transcript variants of the MBD1 are generated by alternative splicing resulting in protein isoforms that contain one MBD domain, two to three cysteine-rich domains, and some differences in the COOH terminus. All five transcript variants repress transcription from methylated promoters; in addition, variants with three CXXC domains also repress unmethylated promoter activity. MBD1 and MBD2 map very close to each other on chromosome 18q21.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: CXXC-type zinc finger protein 3; methyl-CpG binding domain protein 1 isoform PCM1; Methyl-CpG-binding Domain 1; Methyl-CpG-binding domain protein 1; Methyl-CpG-binding protein MBD1; PCM1; Protein containing methyl-CpG-binding domain 1; the regulator of fibroblast growth factor 2 (FGF-2) transcription
Gene Aliases: CXXC3; MBD1; PCM1; RFT
UniProt ID: (Human) Q9UIS9
Entrez Gene ID: (Human) 4152