Human MBD1 knockout HeLa cell lysate

Supplementary information

This supplementary information is collated from multiple sources and compiled automatically.

Methyl-CpG binding domain protein 1 (MBD1) also known as CXXC-type and BYE1 domain containing 1 recognizes and binds to methylated CpG sites in the DNA. This protein has a molecular weight of approximately 70 kDa. MBD1 is expressed widely in human tissues with higher levels detectable in the brain particularly the cerebral cortex. It acts within the nucleus where it functions as an important participant in the regulation of gene expression through DNA methylation.

Biological function summary

MBD1 influences the repression or activation of genomic transcription. It binds to methylated DNA and interacts with other proteins including methyl CpG binding proteins to form transcriptional repression complexes. This activity plays a role in gene silencing and modulation. MBD1 ensures proper interpretation of epigenetic marks therefore sustaining cellular identity and lineage commitment. In some cells MBD1 also engages with chromatin remodeling complexes to influence chromatin structure.

Pathways

MBD1 plays a significant role in the epigenetic and transcription regulation pathways. It is directly involved in DNA methylation processes interacting with histone deacetylases such as HDAC1 and other chromatin-modifying proteins. The pathway provides an important mechanism for long-term transcriptional silencing affecting developmental processes and cellular differentiation through methylation-dependent transcriptional regulation. MBD1 shares pathway interactions with proteins like MeCP2 highlighting interconnected roles in maintaining DNA methylation landscapes.

MBD1 has links to neurological disorders and cancer. It shows associations with Rett syndrome a neurodevelopmental disorder through its interaction with other methyl CpG binding proteins. Mutations or dysregulation in MBD1’s function can disrupt normal methylation patterns contributing to gene expression changes seen in disease states. In cancer aberrant MBD1 expression may lead to inappropriate gene silencing impacting tumor suppressor genes. Many cancers including glioblastoma exhibit altered MBD1 expression levels implicating its role in tumorigenesis.