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DOT1L (Histone-lysine N-methyltransferase, H3 lysine-79 specific) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma and Neuroblastoma.
Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA.
IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Neuroblastoma.
In plain words · DOT1L (Histone-lysine N-methyltransferase, H3 lysine-79 specific) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma and Neuroblastoma.
DOT1L (Histone-lysine N-methyltransferase, H3 lysine-79 specific) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma and Neuroblastoma.
Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones.
No product in this corpus aims at DOT1L yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
First described 2001. Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". Source.
Sources: HGNC HGNC:24948 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8TEK3 (protein name, function text, keywords and locations (REST API)); IntOGen DOT1L (driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA. Together with MLLT3/AF9, is involved in SCNN1A transcriptional repression following H3K79 hypermethylation at the promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 19p13.3 (HGNC).
Query for this target: (TITLE:"DOT1L" OR ABSTRACT:"DOT1L" OR TITLE:"DOT1 like histone lysine methyltransferase" OR ABSTRACT:"DOT1 like histone lysine methyltransferase" OR TITLE:"Histone-lysine N-methyltransferase, H3 lysine-79 specific" OR ABSTRACT:"Histone-lysine N-methyltransferase, H3 lysine-79 specific" OR TITLE:"KIAA1814" OR ABSTRACT:"KIAA1814" OR TITLE:"DOT1" OR ABSTRACT:"DOT1" OR TITLE:"KMT4" OR ABSTRACT:"KMT4") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about DOT1L, not a curated reading list.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Menin / KMT2A (HOXA9-MEIS1 axis), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.
Shares Neuroblastoma (paediatric), IntOGen.