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

Summary

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; early embryo; sensory organ; and yolk sac. Used to study dilated cardiomyopathy 1A. Human ortholog(s) of this gene implicated in acute biphenotypic leukemia. Orthologous to human DOT1L (DOT1 like histone lysine methyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 34.5), adrenal adult (RPKM 27.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1.
Title: DOT1L protects against podocyte injury in diabetic kidney disease through phospholipase C-like 1.
DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
Title: DOT1L-mediated RAP80 methylation promotes BRCA1 recruitment to elicit DNA repair.
The disruptor of telomeric silencing 1-like (DOT1L) promotes peritoneal fibrosis through the upregulation and activation of protein tyrosine kinases.
Title: The disruptor of telomeric silencing 1-like (DOT1L) promotes peritoneal fibrosis through the upregulation and activation of protein tyrosine kinases.
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.
DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons.
Title: DOT1L deletion impairs the development of cortical parvalbumin-expressing interneurons.
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.
DOT1L bridges transcription and heterochromatin formation at mammalian pericentromeres.
Title: DOT1L bridges transcription and heterochromatin formation at mammalian pericentromeres.
DOT1L regulates chromatin reorganization and gene expression during sperm differentiation.
Title: DOT1L regulates chromatin reorganization and gene expression during sperm differentiation.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Gene trapped (2) 1 citation
Targeted (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236419

AW907654 (e-PCR)
- UniSTS:185844

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 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	ISO Inferred from Sequence Orthology more info
involved_in subtelomeric heterochromatin formation	IBA Inferred from Biological aspect of Ancestor 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

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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

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)

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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

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

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

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)
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)
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)
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). ...
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). ...
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). ...