Aliases for L3MBTL1 Gene
External Ids for L3MBTL1 Gene
Previous HGNC Symbols for L3MBTL1 Gene
Previous GeneCards Identifiers for L3MBTL1 Gene
This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
GeneCards Summary for L3MBTL1 Gene
L3MBTL1 (L3MBTL1, Histone Methyl-Lysine Binding Protein) is a Protein Coding gene. Diseases associated with L3MBTL1 include Shwachman-Diamond Syndrome 1 and Brain Cancer. Among its related pathways are Gene Expression and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is L3MBTL3.
UniProtKB/Swiss-Prot for L3MBTL1 Gene
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.