DOT1L - DOT1 like histone lysine methyltransferase Gene

Homo sapiens

Also known as DOT1; KMT4

Gene ID: 84444 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-15593	Pinometostat	Inhibitor	99.99%	Phase 2

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-15650	SGC0946	Inhibitor	99.68%	Unkown
HY-15227	EPZ004777	Inhibitor	98.78%	Unkown
HY-135127	Dot1L-IN-4	Inhibitor	98.98%	Unkown
HY-135128	Dot1L-IN-5	Inhibitor	98.57%	Unkown
HY-101520A	Dot1L-IN-1 TFA	Inhibitor	98.56%	Unkown
HY-101520	Dot1L-IN-1	Inhibitor	/	Unkown
HY-168083	Dot1L-IN-9	Inhibitor	/	Unkown
HY-145813	MU1656	Inhibitor	/	Unkown
HY-146724	Dot1L-IN-7	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

Name
Email *

	Sorry, but the email address you supplied was invalid.