DOT1L - DOT1 like histone lysine methyltransferase Gene

Also Known as DOT1; KMT4

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84444

About DOT1L

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,163,933-2,232,578 (from NCBI)

This gene has 9 transcripts (splice variants) and 205 orthologues. Broad expression in testis (RPKM 18.3), bone marrow (RPKM 5.1) and 22 other tissues.

Summary

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]

DOT1L Products (8)

mRNA Protein Name
NM_032482.3 NP_115871.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1
XM_011528361.3 XP_011526663.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X6
NM_001411141.1 NP_001398070.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 2
XM_047439515.1 XP_047295471.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X5
XM_047439513.1 XP_047295469.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3
XM_047439514.1 XP_047295470.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4
XM_011528359.3 XP_011526661.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X2
XM_005259659.4 XP_005259716.1 histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
22002246 GOA
enables histone H3K79 methyltransferase activity IDA
IDA: Inferred from direct assay
15851025 GOA
enables histone H3K79 methyltransferase activity IMP
IMP: Inferred from mutant phenotype
15851025 GOA
enables histone methyltransferase activity IDA
IDA: Inferred from direct assay
17707234 GOA
enables nucleic acid binding EXP
EXP: Inferred from Experiment
12628190 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20153263 GOA
enables transcription coactivator activity IMP
IMP: Inferred from mutant phenotype
22002246 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
15851025 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
22002246 GOA
involved in regulation of receptor signaling pathway via JAK-STAT IDA
IDA: Inferred from direct assay
22002246 GOA
involved in regulation of transcription regulatory region DNA binding IMP
IMP: Inferred from mutant phenotype
22002246 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
15851025 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
15851025 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOT1L Protein Structure

DOT1

DOT1: Histone methylation protein DOT1 (115 - 317)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1537 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase, H3 lysine-79 specific

  • DOT1 like histone H3K79 methyltransferase

  • DOT1-like histone methyltransferase

  • DOT1-like protein

  • DOT1-like, histone H3 methyltransferase

  • H3-K79-HMTase

  • histone H3-K79 methyltransferase

  • histone methyltransferase DOT1L

  • lysine N-methyltransferase 4

DOT1L Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DOT1L Q8TEK3 MLLT1 Homo sapiens Q03111
Anti Tag CoIP
20203130
Intra
DOT1L Q8TEK3 MLLT1 Homo sapiens Q03111
Anti Tag CoIP
20153263
Intra
DOT1L Q8TEK3 MLLT3 Homo sapiens P42568
Anti Tag CoIP
20203130
Intra
DOT1L Q8TEK3 MLLT3 Homo sapiens P42568
Anti Tag CoIP
26496610
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DOT1L Proteins

Cat. No. Product Name Accession Purity
HY-P75283 DOT1L Protein, Human Q8TEK3-1/NP_115871.1 (G2-K416) ≥ 90%, as determined by reducing SDS-PAGE.

DOT1L Antibodies

Cat. No. Product Name Application Reactivity
HY-P81657 KMT4 Antibody (YA1402) WB, IHC-P Human, Mouse
HY-P81657A KMT4 Antibody (YA1402)(PBS only) WB, IHC-P Human, Mouse

Related Diseases

Diseases Alias
Myelodysplastic Syndrome

  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To
Leukemia, Acute Myeloid

  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Leukemia, Myeloid, Acute

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Acute Promyelocytic Leukemia

  • Leukemia, Acute Promyelocytic

  • Acute Myeloblastic Leukemia Type 3

  • Aml M3

  • APL

  • Leukemia, Acute Promyelocytic, Somatic

  • Aml With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Apml

  • Acute Myeloblastic Leukemia 3

  • Acute Myeloid Leukemia With T(15

  • 17)(Q22

  • Q12)

  • (Pml/Raralpha) And Variants

  • Acute Myeloblastic Leukaemia Type 3

  • Acute Myeloid Leukaemia M3

  • Acute Myeloid Leukemia M3

  • Acute Promyelocytic Leukaemia

  • M3 Anll

  • Myeloid Leukemia, Acute, M3

  • Leukemia Promyelocytic Acute

  • Leukemia, Promyelocytic, Acute

  • Leukemia, Acute, Promyelocytic
Nut Midline Carcinoma

  • Nuclear Protein In Testis Midline Carcinoma

  • Nmc
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Clinical Phase
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Phase
HY-15593 Pinometostat Inhibitor 99.99% Phase 2

Pre-clinical Phase

Bioactive Molecules (19)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-15227 EPZ004777 Inhibitor 99.74% Unkown
HY-15650 SGC0946 Inhibitor 99.68% Unkown
HY-135127 Dot1L-IN-4 Inhibitor 99.67% Unkown
HY-141877 MS4322 Degrader 99.14% Unkown
HY-15227A EPZ004777 hydrochloride Inhibitor 98.92% Unkown
HY-135128 Dot1L-IN-5 Inhibitor 99.82% Unkown
HY-141877B MS4322 (isomer) 99.87% Unkown
HY-121093 DC-S239 Inhibitor 99.73% Unkown
HY-101520A Dot1L-IN-1 TFA Inhibitor 99.59% Unkown
HY-181789 DOT1L808 Degrader / Unkown
HY-101520 Dot1L-IN-1 Inhibitor / Unkown
HY-173423 DOT1L ligand-1 Ligand / Unkown
HY-145813 MU1656 Inhibitor / Unkown
HY-146724 Dot1L-IN-7 Inhibitor / Unkown
HY-181790 DOT1L ligand-2 Ligand / Unkown
HY-168083 Dot1L-IN-9 Inhibitor / Unkown
HY-115619 EPZ004777 formate Inhibitor / Unkown
HY-15650A SGC0946 TFA Inhibitor / Unkown
HY-111367 MS2734 Inhibitor / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus DOT1L VGNC VGNC:61591
Canis familiaris DOT1L VGNC VGNC:54298
Rattus norvegicus DOT1L RGD RGD:1306644
Macaca mulatta DOT1L VGNC VGNC:71901
Mus musculus DOT1L MGD MGI:2143886
Bos taurus DOT1L VGNC VGNC:50607
Others DOT1L NCBI