Dot1l DOT1-like, histone H3 methyltransferase (S. cerevisiae) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dot1lprovided by MGI
Official Full Name: DOT1-like, histone H3 methyltransferase (S. cerevisiae)provided 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

Location:: 10; 10 C1

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
109	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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Histone methyltransferase DOT1L is essential for self-renewal of germline stem cells.
Title: Histone methyltransferase DOT1L is essential for self-renewal of germline stem cells.
Loss of Dot1l results in a failure in spermatogonial stem cell self-renewal and thus male sterility. Dot1l promotes expression of the fate-determining HoxC transcription factors in spermatogonial stem cells.
Title: Histone methyltransferase DOT1L is essential for self-renewal of germline stem cells.
DOT1L Methyltransferase Regulates Calcium Influx in Erythroid Progenitor Cells in Response to Erythropoietin.
Title: DOT1L Methyltransferase Regulates Calcium Influx in Erythroid Progenitor Cells in Response to Erythropoietin.
The histone methyltransferase DOT1L is a new epigenetic regulator of pulmonary fibrosis.
Title: The histone methyltransferase DOT1L is a new epigenetic regulator of pulmonary fibrosis.
DOT1L inhibition enhances pluripotency beyond acquisition of epithelial identity and without immediate suppression of the somatic transcriptome.
Title: DOT1L inhibition enhances pluripotency beyond acquisition of epithelial identity and without immediate suppression of the somatic transcriptome.
Hypoxia induces DOT1L in articular cartilage to protect against osteoarthritis.
Title: Hypoxia induces DOT1L in articular cartilage to protect against osteoarthritis.
Histone methyltransferase DOT1L mediates the TGF-beta1/Smad3 signaling pathway through epigenetic modification of SYK in myocardial infarction.
Title: Histone methyltransferase DOT1L mediates the TGF-β1/Smad3 signaling pathway through epigenetic modification of SYK in myocardial infarction.
Targeted disruption of the histone lysine 79 methyltransferase Dot1L in nephron progenitors causes congenital renal dysplasia.
Title: Targeted disruption of the histone lysine 79 methyltransferase Dot1L in nephron progenitors causes congenital renal dysplasia.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Variation

Go to the top of the page Help

Alleles

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

Gene trapped (2) 1 citation
Targeted (10) 1 citation
Endonuclease-mediated (4) 1 citation

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

NoName (e-PCR)
- UniSTS:236419

AW907654 (e-PCR)
- UniSTS:185844

Homology

Homologs of the Dot1l gene: The Dot1l gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 490 organisms have orthologs with human gene Dot1l
Orthologs

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	PubMed
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	PubMed
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 histone H3-K79 methylation	ISO Inferred from Sequence Orthology 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	PubMed
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	PubMed
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; histone H3 methyltransferase DOT1; histone methyltransferase DOT1L

NP_955354.1

EC 2.1.1.354

XP_006513492.1

EC 2.1.1.354

XP_006513493.1

EC 2.1.1.354

XP_006513494.1

EC 2.1.1.354

XP_011241692.1

EC 2.1.1.354

XP_011241693.1

EC 2.1.1.354

XP_030100834.1

EC 2.1.1.354

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)

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

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: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

80590935..80631295

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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)
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

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)
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

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)
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

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

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). ...
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

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). ...