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

Gene ID: 84444, updated on 11-Apr-2024

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; AllianceGenome:HGNC:24948
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
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Genomic context

See DOT1L in Genome Data Viewer
Location:
19p13.3
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2163933..2232578)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2137178..2206142)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2163932..2232577)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2085331-2086056 Neighboring gene MOB kinase activator 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2089069-2090031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13655 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2096431-2096958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2096959-2097484 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2104508-2104680 Neighboring gene IZUMO family member 4 Neighboring gene adaptor related protein complex 3 subunit delta 1 Neighboring gene MPRA-validated peak3230 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2141381-2141538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2144918-2145541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2145542-2146164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13657 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2150717-2150878 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2151574-2152011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9771 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:2165242-2165623 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:2168563-2169762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2171045-2171639 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2171640-2172234 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2173473-2173991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2180689-2181272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2195534-2196062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2196063-2196591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2200246-2201219 Neighboring gene uncharacterized LOC124904611 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9773 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2225862-2226368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2234553-2235132 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:2235135-2235743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9774 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1814, DKFZp586P1823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables histone H3 methyltransferase activity TAS
Traceable Author Statement
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 nucleic acid binding EXP
Inferred from Experiment
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
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 
part_of 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_001398070.1
NP_115871.1
XP_011526661.1
XP_011526663.1
XP_047295469.1
XP_047295470.1
XP_047295471.1
XP_054178319.1
XP_054178320.1
XP_054178321.1
XP_054178322.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029793.1 RefSeqGene

    Range
    4785..73430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001411141.1NP_001398070.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004490, AC005257, AC005263, AC093456
    Consensus CDS
    CCDS92483.1
    UniProtKB/TrEMBL
    A0A8I5QL06
    Related
    ENSP00000510335.1, ENST00000686010.1
  2. NM_032482.3NP_115871.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform 1

    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
    O60379, Q8TEK3, Q96JL1
    UniProtKB/TrEMBL
    A0A1C9J735
    Related
    ENSP00000381657.3, ENST00000398665.8
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    2163933..2232578
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528359.3XP_011526661.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

    UniProtKB/TrEMBL
    A0A1C9J735
    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_047439515.1XP_047295471.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

  3. XM_047439514.1XP_047295470.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

  4. XM_047439513.1XP_047295469.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X2

  5. XM_011528361.3XP_011526663.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X5

    UniProtKB/TrEMBL
    A0A1C9J735
    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). ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    2137178..2206142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322344.1XP_054178319.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X1

  2. XM_054322346.1XP_054178321.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

  3. XM_054322345.1XP_054178320.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

  4. XM_054322347.1XP_054178322.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X5