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Details on Person UniProt:Q8TEK3 DOT1L
| Class:Id | ReferenceGeneProduct:53814 |
|---|---|
| _chainChangeLog | chain:1-1739 added on Fri February 6 2015 |
| _displayName | UniProt:Q8TEK3 DOT1L |
| _timestamp | 2026-02-20 22:53:59 |
| chain | chain:1-1537 |
| checksum | 9CEA12850DC4ACB1 |
| comment | FUNCTION Histone methyltransferase that methylates 'Lys-79' of histone H3 (PubMed:12123582, PubMed:38503750, PubMed:38129415). Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582, PubMed:38503750). Binds to DNA (PubMed:12628190, PubMed:38503750).CATALYTIC ACTIVITY L-lysyl(79)-[histone H3] + 3 S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl(79)-[histone H3] + 3 S-adenosyl-L-homocysteine + 3 H(+)ACTIVITY REGULATION Inhibited by EPZ00477747 compound, a chemical derivative of S-adenosyl-L-methionine (SAM).SUBUNIT Interacts with MLLT10.INTERACTION (Microbial infection) Expression is down-regulated following M.tuberculosis infection, hence decreasing DOT1L-mediated nucleosomally added H3K79me3 mark on pro-inflammatory response genes.DISEASE The disease is caused by variants affecting the gene represented in this entry. Disease-causing variants may act through a gain-of-function effect leading to an increase in cellular H3K79 methylation levels.MISCELLANEOUS In contrast to other lysine histone methyltransferases, it does not contain a SET domain, suggesting the existence of another mechanism for methylation of lysine residues of histones.SIMILARITY Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family. |
| description | recommendedName: fullName evidence="11"Histone-lysine N-methyltransferase, H3 lysine-79 specific ecNumber evidence="3 7 9"2.1.1.360 alternativeName: DOT1-like protein alternativeName: fullName evidence="10"Disruptor of telomeric silencing 1-like histone lysine methyltransferase alternativeName: Histone H3-K79 methyltransferase shortName: H3-K79-HMTase alternativeName: Lysine N-methyltransferase 4 |
| geneName | DOT1L KIAA1814 KMT4 |
| identifier | Q8TEK3 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Chromatin regulator Disease variant DNA-binding Intellectual disability Methyltransferase Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat S-adenosyl-L-methionine Transferase |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9909836] Weiser, Joel, 2024-05-14 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | DOT1L |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8994184] ENSEMBL:ENSG00000104885 DOT1L [Homo sapiens] |
| secondaryIdentifier | DOT1L_HUMAN O60379 Q96JL1 |
| sequenceLength | 1537 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:146513] UniProt:Q8TEK3-2 DOT1L [Homo sapiens] [ReferenceIsoform:411927] UniProt:Q8TEK3-1 DOT1L [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:3239030] DOT1L [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q8TEK3 DOT1L (53814)
