U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dot1l DOT1 like histone lysine methyltransferase [ Mus musculus (house mouse) ]

Gene ID: 208266, updated on 23-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Dot1lprovided by MGI
Official Full Name
DOT1 like histone lysine methyltransferaseprovided by MGI
Primary source
MGI:MGI:2143886
See related
Ensembl:ENSMUSG00000061589 AllianceGenome:MGI:2143886
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Dot1; KMT4; mDot1; A630076O07
Summary
Enables histone methyltransferase activity. Acts upstream of or within with a negative effect on gene expression. Located in cytoplasm and nucleus. Is expressed in several structures, including 1st branchial arch; blood; heart; sensory organ; and yolk sac. Used to study dilated cardiomyopathy 1A. Human ortholog(s) of this gene implicated in mixed phenotype acute leukemia. Orthologous to human DOT1L (DOT1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 34.5), adrenal adult (RPKM 27.1) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
10 C1; 10 39.72 cM
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (80590935..80631295)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (80755101..80795461)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene adaptor-related protein complex 3, delta 1 subunit Neighboring gene STARR-positive B cell enhancer ABC_E368 Neighboring gene STARR-positive B cell enhancer ABC_E8348 Neighboring gene STARR-positive B cell enhancer ABC_E3900 Neighboring gene predicted gene, 53592 Neighboring gene STARR-seq mESC enhancer starr_27297 Neighboring gene VISTA enhancer mm200 Neighboring gene pleckstrin homology domain containing, family J member 1 Neighboring gene splicing factor 3a, subunit 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. DOT1L inhibition enhances pluripotency beyond acquisition of epithelial identity and without immediate suppression of the somatic transcriptome. Wille CK, et al. Stem Cell Reports, 2022 Feb 8. PMID 34995500, Free PMC Article
  2. Histone Methyltransferase Dot1L Contributes to RIPK1 Kinase-Dependent Apoptosis in Cerebral Ischemia/Reperfusion. Wang J, et al. J Am Heart Assoc, 2021 Dec 7. PMID 34796721, Free PMC Article
  3. Hypoxia induces DOT1L in articular cartilage to protect against osteoarthritis. De Roover A, et al. JCI Insight, 2021 Dec 22. PMID 34727094, Free PMC Article
  4. DOT1L Regulates Thermogenic Adipocyte Differentiation and Function via Modulating H3K79 Methylation. Shuai L, et al. Diabetes, 2021 Jun. PMID 33795413
  5. DOT1L-mediated murine neuronal differentiation associates with H3K79me2 accumulation and preserves SOX2-enhancer accessibility. Ferrari F, et al. Nat Commun, 2020 Oct 15. PMID 33060580, Free PMC Article

See all (100) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Nucleophosmin 1 cooperates with the methyltransferase DOT1L to preserve peri-nucleolar heterochromatin organization by regulating H3K27me3 levels and DNA repeats expression.
    Title: Nucleophosmin 1 cooperates with the methyltransferase DOT1L to preserve peri-nucleolar heterochromatin organization by regulating H3K27me3 levels and DNA repeats expression.
  2. DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons.
    Title: DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons.
  3. Dot1l cooperates with Npm1 to repress endogenous retrovirus MERVL in embryonic stem cells.
    Title: Dot1l cooperates with Npm1 to repress endogenous retrovirus MERVL in embryonic stem cells.
  4. DOT1L bridges transcription and heterochromatin formation at mammalian pericentromeres.
    Title: DOT1L bridges transcription and heterochromatin formation at mammalian pericentromeres.
  5. DOT1L regulates chromatin reorganization and gene expression during sperm differentiation.
    Title: DOT1L regulates chromatin reorganization and gene expression during sperm differentiation.
  6. The DOT1L-MLLT10 complex regulates male fertility and promotes histone removal during spermiogenesis.
    Title: The DOT1L-MLLT10 complex regulates male fertility and promotes histone removal during spermiogenesis.
  7. DOT1L promotes spermatid differentiation by regulating expression of genes required for histone-to-protamine replacement.
    Title: DOT1L promotes spermatid differentiation by regulating expression of genes required for histone-to-protamine replacement.
  8. Single-cell transcriptomics defines Dot1L interacting partners and downstream target genes in the mouse molar dental pulp.
    Title: Single-cell transcriptomics defines Dot1L interacting partners and downstream target genes in the mouse molar dental pulp.
  9. DOT1L regulates lipid biosynthesis and inflammatory responses in macrophages and promotes atherosclerotic plaque stability.
    Title: DOT1L regulates lipid biosynthesis and inflammatory responses in macrophages and promotes atherosclerotic plaque stability.
  10. The epigenetic enzyme DOT1L orchestrates vascular smooth muscle cell-monocyte crosstalk and protects against atherosclerosis via the NF-kappaB pathway.
    Title: The epigenetic enzyme DOT1L orchestrates vascular smooth muscle cell-monocyte crosstalk and protects against atherosclerosis via the NF-κB pathway.
Submit: New GeneRIF Correction See all GeneRIFs (77)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
  
enables histone H3K79 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H3K79 trimethyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone methyltransferase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables nucleic acid binding ISO
Inferred from Sequence Orthology
more info
  
enables transcription coactivator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within_negative_effect gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within_negative_effect gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 PubMed 
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of receptor signaling pathway via JAK-STAT ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription regulatory region DNA binding ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
histone-lysine N-methyltransferase, H3 lysine-79 specific
Names
DOT1-like histone H3 methyltransferase
DOT1-like, histone H3 methyltransferase
histone H3 methyltransferase DOT1
histone methyltransferase DOT1L
NP_955354.1
XP_006513492.1
XP_006513493.1
XP_006513494.1
XP_011241692.1
XP_011241693.1
XP_030100834.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_199322.2 → NP_955354.1  histone-lysine N-methyltransferase, H3 lysine-79 specific

    See identical proteins and their annotated locations for NP_955354.1

    Status: VALIDATED

    Source sequence(s)
    AC166937, AW123461, AY196089, CJ104249
    Consensus CDS
    CCDS35985.1
    UniProtKB/TrEMBL
    H9LAN6, Q6XZL8
    Related
    ENSMUSP00000100973.3, ENSMUST00000105336.9
    Conserved Domains (3) summary
    pfam08123
    Location:115 → 317
    DOT1; Histone methylation protein DOT1
    pfam15035
    Location:491 → 659
    Rootletin; Ciliary rootlet component, centrosome cohesion
    pfam15898
    Location:573 → 630
    PRKG1_interact; cGMP-dependent protein kinase interacting domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    80590935..80631295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011243391.3 → XP_011241693.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X2

    UniProtKB/TrEMBL
    H9LAN6
    Conserved Domains (4) summary
    pfam08123
    Location:115 → 317
    DOT1; Histone methylation protein DOT1
    PHA03307
    Location:781 → 1125
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:510 → 659
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam05109
    Location:942 → 1314
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  2. XM_011243390.3 → XP_011241692.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

    See identical proteins and their annotated locations for XP_011241692.1

    UniProtKB/TrEMBL
    H9LAN6
    Conserved Domains (4) summary
    pfam08123
    Location:115 → 317
    DOT1; Histone methylation protein DOT1
    PHA03307
    Location:781 → 1125
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:510 → 659
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam05109
    Location:942 → 1314
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  3. XM_006513429.4 → XP_006513492.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

    See identical proteins and their annotated locations for XP_006513492.1

    UniProtKB/TrEMBL
    H9LAN6
    Conserved Domains (4) summary
    pfam08123
    Location:115 → 317
    DOT1; Histone methylation protein DOT1
    PHA03307
    Location:781 → 1125
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:510 → 659
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    pfam05109
    Location:942 → 1314
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

  4. XM_006513430.3 → XP_006513493.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

    See identical proteins and their annotated locations for XP_006513493.1

    UniProtKB/TrEMBL
    Q571B8
    Conserved Domains (3) summary
    PHA03307
    Location:542 → 886
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:271 → 420
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    cl17173
    Location:9 → 78
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  5. XM_030244974.2 → XP_030100834.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

    UniProtKB/TrEMBL
    Q571B8
    Conserved Domains (3) summary
    PHA03307
    Location:565 → 909
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:294 → 443
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    cl17173
    Location:2 → 101
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

  6. XM_006513431.3 → XP_006513494.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

    See identical proteins and their annotated locations for XP_006513494.1

    UniProtKB/TrEMBL
    Q571B8
    Conserved Domains (3) summary
    PHA03307
    Location:542 → 886
    PHA03307; transcriptional regulator ICP4; Provisional
    TIGR04523
    Location:271 → 420
    Mplasa_alph_rch; helix-rich Mycoplasma protein
    cl17173
    Location:9 → 78
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RNA

  1. XR_380380.4 RNA Sequence

  2. XR_004936134.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous