DISEASES

Disease-gene associations mined from literature

Literature on L3MBTL1

L3MBTL1 [ENSP00000398516]

Lethal(3)malignant brain tumor-like protein 1; Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post- translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/HIST1H1E at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and repress transcription. Recognizes and binds p53/TP53 monomethylated at 'Lys-382', leading to repress p53/TP53-target genes. Also recognizes and binds RB1/RB monomethylated at 'Lys-860'. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis; MBT domain containing

Synonyms:  L3MBTL1,  L3MBTL1p,  hL3MBTL1,  B0QYN4,  B0QYN5 ...

Linkouts:  STRING  Pharos