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

    Gene ID: 84444, updated on 17-Jun-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
    NEW
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    Try the new Transcript table

    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
      A0A1C9J735, 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

      UniProtKB/TrEMBL
      A0A1C9J735
    3. XM_047439514.1XP_047295470.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

      UniProtKB/TrEMBL
      A0A1C9J735
    4. XM_047439513.1XP_047295469.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X2

      UniProtKB/TrEMBL
      A0A1C9J735
    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

      UniProtKB/TrEMBL
      A0A1C9J732, A0A1C9J735
    2. XM_054322346.1XP_054178321.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X4

      UniProtKB/TrEMBL
      A0A1C9J732, A0A1C9J735
    3. XM_054322345.1XP_054178320.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X3

      UniProtKB/TrEMBL
      A0A1C9J732, A0A1C9J735
    4. XM_054322347.1XP_054178322.1  histone-lysine N-methyltransferase, H3 lysine-79 specific isoform X5

      UniProtKB/TrEMBL
      A0A1C9J732, A0A1C9J735