DOT1L Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | DOT1L |
| Official Name | DOT1 like histone lysine methyltransferase [Source:HGNC Symbol;Acc:HGNC:24948] |
| Ensembl ID | ENSG00000104885 |
| Bio databases IDs | |
| Aliases | DOT1 like histone lysine methyltransferase, histone methyltransferase DOT1L |
| Synonyms | A630076O07, DOT1, DOT1 like histone lysine methyltransferase, KMT4, mDot1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DOT1L often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SPEC
- type III secretion apparatus protein, HrpE/YscL family
- Flagellar FliJ protein
- TPR/MLP1/MLP2-like protein
- Autophagy protein 16 (ATG16)
- transcription co-activator
- nucleic acid binding
- transcription factor binding
- AdoMet_MTases
- protein binding
- Ciliary rootlet component, centrosome cohesion
- protein-lysine N-methyltransferase
- Mechanosensitive ion channel porin domain
- flagellar export protein FliJ
- histone methyltransferase
- STAT_CCD
- phosphatase
- Leucine-rich repeats of kinetochore protein Cenp-F/LEK1
- Growth-arrest specific micro-tubule binding
Pathways
Biological processes and signaling networks where the DOT1L gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- anemia
- breast carcinoma
- systemic lupus erythematosus
- hereditary disorder
- osteoarthritis
- lung adenocarcinoma
- lung adenocarcinoma formation
- neoplastic cell transformation
- growth failure
- chronic obstructive pulmonary disease
role in cell
- expression in
- proliferation
- activation in
- apoptosis
- cell viability
- number
- senescence
- activation
- quantity
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- intracellular membrane-bounded organelle
- Cytoplasm
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DOT1L gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA damage checkpoint
- heterochromatin assembly
- positive regulation of cell proliferation
- regulation of JAK-STAT cascade
- gene expression
- regulation of transcription regulatory region DNA binding
- telomere organization
- positive regulation of transcription from RNA polymerase II promoter
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- nucleic acid binding
- DNA binding
- protein binding
- histone methyltransferase activity (H3-K79 specific)
- histone methyltransferase activity