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27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DOT1L
DOT1 like histone lysine methyltransferase
Chromosome 19 Β· 19p13.3
NCBI Gene: 84444Ensembl: ENSG00000104885.19HGNC: HGNC:24948UniProt: A0A8I5QL06
166PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusregulation of transcription regulatory region DNA bindingregulation of receptor signaling pathway via JAK-STATprotein bindinggenetic disorderneuroblastomaatrial fibrillationneurodegenerative disease
✦AI Summary

DOT1L (DOT1 Like Histone Lysine Methyltransferase) is a histone methyltransferase that specifically methylates lysine 79 of histone H3 (H3K79), with nucleosomes being preferred substrates over free histones 1. This methylation activity plays crucial roles in transcriptional regulation and DNA damage response. DOT1L functions as part of complex regulatory networks, including interactions with the MLL1 complex that can elicit conformational changes regulating transcription 2. In cancer contexts, DOT1L demonstrates significant pathological relevance. It contributes to PARP inhibitor resistance in ovarian cancer through a PARP1-DOT1L-PLCG2/ABCB1 axis, where PARP1 directly binds to the DOT1L promoter and enhances its transcription 3. DOT1L is identified as a therapeutic target in acute myeloid leukemia, with established clinical actionability 4. Additionally, DOT1L plays a critical role in DNA damage repair by methylating RAP80 at multiple lysines, which is essential for BRCA1-A complex recruitment to double-strand breaks 5. In neurodevelopment, DOT1L functions as part of an epigenetic barrier that controls the timing of human neuronal maturation 6. The enzyme's diverse roles make it a promising therapeutic target across multiple cancer types and developmental disorders.

Sources cited
1
DOT1L methylates lysine 79 of histone H3 with nucleosomes as preferred substrates
PMID: 12123582
2
DOT1L participates in complex interactions that regulate transcription through conformational changes
PMID: 36284179
3
DOT1L contributes to PARP inhibitor resistance through PARP1-mediated transcriptional regulation
PMID: 38778348
4
DOT1L is identified as a therapeutic target in acute myeloid leukemia
PMID: 27760321
5
DOT1L methylates RAP80 to promote BRCA1-A complex recruitment for DNA damage repair
PMID: 39172790
6
DOT1L functions as part of an epigenetic barrier controlling human neuronal maturation timing
PMID: 38297124
Disease Associationsβ“˜21
genetic disorderOpen Targets
0.34Weak
neuroblastomaOpen Targets
0.32Weak
atrial fibrillationOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.30Weak
Abnormality of the skeletal systemOpen Targets
0.29Weak
osteoarthritis, kneeOpen Targets
0.26Weak
atrial flutterOpen Targets
0.25Weak
cardiac arrhythmiaOpen Targets
0.25Weak
coronary atherosclerosisOpen Targets
0.21Weak
myocardial infarctionOpen Targets
0.20Weak
diffuse large B-cell lymphomaOpen Targets
0.18Weak
systemic lupus erythematosusOpen Targets
0.18Weak
aortic aneurysmOpen Targets
0.17Weak
total knee arthroplastyOpen Targets
0.15Weak
hypertensionOpen Targets
0.15Weak
medical procedureOpen Targets
0.14Weak
developmental disorder of mental healthOpen Targets
0.12Weak
breast cancerOpen Targets
0.11Weak
renal carcinomaOpen Targets
0.10Weak
leukemiaOpen Targets
0.10Weak
Nil-Deshwar neurodevelopmental syndromeUniProt
Pathogenic Variants9
NM_032482.3(DOT1L):c.3882dup (p.Gly1295fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2017β†’ Residue 1295
NM_032482.3(DOT1L):c.469G>A (p.Asp157Asn)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2026β†’ Residue 157
NM_032482.3(DOT1L):c.385G>A (p.Glu129Lys)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2026β†’ Residue 129
NM_032482.3(DOT1L):c.367G>A (p.Glu123Lys)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 123
NM_032482.3(DOT1L):c.133T>G (p.Cys45Gly)Pathogenic
Nil-Deshwar neurodevelopmental syndrome|Colon adenocarcinoma
β˜†β˜†β˜†β˜†2025β†’ Residue 45
NM_032482.3(DOT1L):c.2557C>T (p.Arg853Cys)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 853
NM_032482.3(DOT1L):c.3074A>T (p.Lys1025Met)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 1025
NM_032482.3(DOT1L):c.299C>T (p.Thr100Met)Pathogenic
DOT1L-related condition|Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 100
NM_032482.3(DOT1L):c.1876C>G (p.Leu626Val)Pathogenic
Nil-Deshwar neurodevelopmental syndrome
β˜†β˜†β˜†β˜†2025β†’ Residue 626
View on ClinVar β†—
Related Genes
H2AC8Protein interaction100%H3-4Protein interaction100%H3C13Protein interaction100%H2BC12Protein interaction100%H3C1Protein interaction100%MLLT1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
89%
Liver
67%
Ovary
52%
Brain
38%
Heart
18%
Gene Interaction Network
Click a node to explore
DOT1LH2AC8H3-4H3C13H2BC12H3C1MLLT1
PROTEIN STRUCTURE
Preparing viewer…
PDB7S7F Β· 1.88 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.32Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.18–0.32]
RankingsWhere DOT1L stands among ~20K protein-coding genes
  • #2,686of 20,598
    Most Researched166 Β· top quartile
  • #2,927of 5,498
    Most Pathogenic Variants9
  • #1,302of 17,882
    Most Constrained (LOEUF)0.32 Β· top 10%
Genes detectedDOT1L
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
An expanded lexicon for the ubiquitin code.
PMID: 36284179
Nat Rev Mol Cell Biol Β· 2023
1.00
2
The language of chromatin modification in human cancers.
PMID: 34002060
Nat Rev Cancer Β· 2021
0.90
3
PARP1-DOT1L transcription axis drives acquired resistance to PARP inhibitor in ovarian cancer.
PMID: 38778348
Mol Cancer Β· 2024
0.80
4
Decoding histone ubiquitylation.
PMID: 36105353
Front Cell Dev Biol Β· 2022
0.72
5
A CRISPR Dropout Screen Identifies Genetic Vulnerabilities and Therapeutic Targets in Acute Myeloid Leukemia.
PMID: 27760321
Cell Rep Β· 2016
0.70