MBT domain-containing protein 1 (MBTD1)

MBT domain-containing protein 1 (MBTD1) is a nuclear protein characterized by four MBT (malignant brain tumor) repeats and a zinc finger domain[1][3]. MBTD1 is part of the polycomb group (PcG) family of chromatin regulators, where it serves as a reader of mono- and di-methylated histone lysine residues, especially H4K20me1 and H4K20me2[1][2][5]. It is a component of the NuA4/TIP60 histone acetyltransferase complex, which plays essential roles in both gene expression regulation and DNA double-strand break repair through homologous recombination[2][4][5]. MBTD1 binds chromatin, influencing transcriptional repression and activation depending on context, maintaining adult and fetal hematopoietic stem cell pool size and quiescence by directly regulating FOXO3a expression and interacting with chromatin remodeling complexes[3]. Genetic ablation in animal models leads to severe developmental defects and altered stem cell function, linking MBTD1 to human disease, particularly in cancer and developmental disorders[3][5]. Drugs or biomarkers specifically interacting with or targeting MBTD1 are not described in the current literature.

Other names

MBTD1SA49P01FLJ20055Malignant Brain Tumor domain-containing protein 1hemphematopoietic expressed mammalian polycomb