L3MBTL1


Description

The L3MBTL1 (L3MBTL histone methyl-lysine binding protein 1) is a protein-coding gene located on chromosome 20.

L3MBTL1, also known as Lethal(3)malignant brain tumor-like protein 1, is a Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins. This makes it a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes. L3MBTL1 acts as a chromatin compaction factor by binding to mono- and dimethylated histone H1b/H1-4 at Lys-26 (H1bK26me1 and H1bK26me2) and histone H4 at Lys-20 (H4K20me1 and H4K20me2), leading to condensed chromatin and repressed transcription. L3MBTL1 also recognizes and binds p53/TP53 monomethylated at Lys-382, repressing p53/TP53-target genes. It also binds RB1/RB monomethylated at Lys-860. L3MBTL1 participates in ETV6-mediated repression. It likely plays a role in cell proliferation and is likely required for normal mitosis. L3MBTL1 is a homodimer that interacts with RB1/RB (when monomethylated at Lys-860), p53/TP53 (when monomethylated at Lys-382), CBX3, ETV6, KMT5A, and VCP/p97.

L3MBTL1 is a Polycomb group (PcG) protein that recognizes and binds mono- and dimethyllysine residues on target proteins, acting as a 'reader' of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes. L3MBTL1 acts as a chromatin compaction factor by binding mono- and dimethylated histone H1b/H1-4 at Lys-26 (H1bK26me1 and H1bK26me2) and histone H4 at Lys-20 (H4K20me1 and H4K20me2), leading to condensed chromatin and repressed transcription. L3MBTL1 also binds p53/TP53 monomethylated at Lys-382, repressing p53/TP53 target genes. It also binds RB1/RB monomethylated at Lys-860. L3MBTL1 participates in ETV6-mediated repression, likely plays a role in cell proliferation, and is required for normal mitosis.

L3MBTL1 is also known as H-L(3)MBT, L3MBTL, ZC2HC3, dJ138B7.3.

Associated Diseases


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