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DOT1L DOT1 like histone lysine methyltransferase [ Homo sapiens (human) ]

Gene ID: 84444, updated on 20-Jan-2019

Summary

Official Symbol
DOT1Lprovided by HGNC
Official Full Name
DOT1 like histone lysine methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:24948
See related
Ensembl:ENSG00000104885 MIM:607375
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DOT1; KMT4
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]
Expression
Broad expression in testis (RPKM 18.3), bone marrow (RPKM 5.1) and 22 other tissues See more
Orthologs

Genomic context

See DOT1L in Genome Data Viewer
Location:
19p13.3
Exon count:
30
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (2163963..2232578)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2164148..2232577)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene IZUMO family member 4 Neighboring gene adaptor related protein complex 3 subunit delta 1 Neighboring gene pleckstrin homology domain containing J1 Neighboring gene microRNA 1227 Neighboring gene microRNA 6789

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
NHGRI GWA Catalog
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Dot1L inhibits HIV-1 LTR-driven reporter gene expression in the presence of HIV-1 Tat PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1814, DKFZp586P1823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
histone methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone methyltransferase activity (H3-K79 specific) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
histone-lysine N-methyltransferase activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin silencing at telomere IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone H3-K79 methylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of JAK-STAT cascade IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription regulatory region DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere organization TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
histone-lysine N-methyltransferase, H3 lysine-79 specific
Names
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
NP_115871.1
XP_005259716.1
XP_005259717.1
XP_011526661.1
XP_011526662.1
XP_011526663.1
XP_016882855.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029793.1 RefSeqGene

    Range
    5001..73430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032482.3NP_115871.1  histone-lysine N-methyltransferase, H3 lysine-79 specific

    See identical proteins and their annotated locations for NP_115871.1

    Status: REVIEWED

    Source sequence(s)
    AC005257, AC005263, AF509504, AL080221
    Consensus CDS
    CCDS42460.1
    UniProtKB/Swiss-Prot
    Q8TEK3
    Related
    ENSP00000381657.3, ENST00000398665.7
    Conserved Domains (4) summary
    pfam08123
    Location:115317
    DOT1; Histone methylation protein DOT1
    pfam09731
    Location:330683
    Mitofilin; Mitochondrial inner membrane protein
    cl25732
    Location:483658
    SMC_N; RecF/RecN/SMC N terminal domain
    cl28033
    Location:7751124
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    2163963..2232578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259659.3XP_005259716.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

    See identical proteins and their annotated locations for XP_005259716.1

    Conserved Domains (3) summary
    pfam08123
    Location:115317
    DOT1; Histone methylation protein DOT1
    pfam12718
    Location:508660
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:493661
    Rootletin; Ciliary rootlet component, centrosome cohesion
  2. XM_005259660.3XP_005259717.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

    See identical proteins and their annotated locations for XP_005259717.1

    Conserved Domains (3) summary
    pfam08123
    Location:115317
    DOT1; Histone methylation protein DOT1
    pfam12718
    Location:508660
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:493661
    Rootletin; Ciliary rootlet component, centrosome cohesion
  3. XM_011528359.2XP_011526661.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X2

    Conserved Domains (3) summary
    pfam08123
    Location:115317
    DOT1; Histone methylation protein DOT1
    pfam12718
    Location:508660
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:493661
    Rootletin; Ciliary rootlet component, centrosome cohesion
  4. XM_017027366.1XP_016882855.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

    Conserved Domains (3) summary
    pfam12718
    Location:289441
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:274442
    Rootletin; Ciliary rootlet component, centrosome cohesion
    cl17173
    Location:2998
    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_011528360.1XP_011526662.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

    Conserved Domains (3) summary
    pfam08123
    Location:45247
    DOT1; Histone methylation protein DOT1
    pfam12718
    Location:438590
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:423591
    Rootletin; Ciliary rootlet component, centrosome cohesion
  6. XM_011528361.2XP_011526663.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X5

    Conserved Domains (3) summary
    pfam12718
    Location:218370
    Tropomyosin_1; Tropomyosin like
    pfam15035
    Location:203371
    Rootletin; Ciliary rootlet component, centrosome cohesion
    cl17173
    Location:127
    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). ...
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