Aliases for DOT1L Gene
External Ids for DOT1L Gene
Previous GeneCards Identifiers for DOT1L Gene
The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
GeneCards Summary for DOT1L Gene
DOT1L (DOT1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with DOT1L include Nut Midline Carcinoma and Hyperinsulinemic Hypoglycemia, Familial, 2. Among its related pathways are Transcriptional misregulation in cancer and Lysine degradation. Gene Ontology (GO) annotations related to this gene include transcription factor binding and histone methyltransferase activity.
UniProtKB/Swiss-Prot Summary for DOT1L Gene
Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190).
Lysine methyltransferases are enyzmes that catalyze the transfer of methyl groups from S-adenosylmethionine (SAM) to the lysine residues on histones, particularly histones H3 and H4. The dysregulation of this methylation is critical in the development of cancer.