MBD1 Gene - Methyl-CpG Binding Domain Protein 1 | Function, Mutations & Disease

MBD1 (Methyl-CpG Binding Domain Protein 1) is a protein-coding gene that encodes a member of the methyl-CpG-binding domain (MBD) family. The protein binds specifically to methylated DNA, particularly at CpG islands, and recruits histone deacetylases and chromatin remodeling complexes to repress transcription. MBD1 plays a critical role in epigenetic gene silencing, genomic imprinting, and maintenance of heterochromatin. It contains a methyl-CpG binding domain (MBD) and a CXXC zinc finger domain that can bind unmethylated CpG sites. Alternative splicing generates multiple isoforms with distinct functional properties.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Epigenetic regulation of gene expression

• Chromatin organization

• Transcriptional repression by methyl-CpG binding proteins

MBD1 is a 605-amino acid protein (isoform 1) with a molecular weight of approximately 66 kDa. It contains an N-terminal methyl-CpG binding domain (MBD) that specifically recognizes symmetrically methylated CpG dinucleotides, and a C-terminal CXXC zinc finger domain that binds unmethylated CpG sequences. The protein also includes a transcriptional repression domain (TRD) that interacts with histone deacetylases (HDACs) and other co-repressors. MBD1 is predominantly nuclear and localizes to heterochromatic foci. It is involved in silencing of imprinted genes, retrotransposons, and tumor suppressor genes. Post-translational modifications include phosphorylation and sumoylation, which modulate its stability and DNA binding affinity.