Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

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

    Gene ID: 84444, updated on 5-Nov-2017
    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; Vega:OTTHUMG00000150431
    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]
    Orthologs
    Location:
    19p13.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 delta 1 subunit Neighboring gene pleckstrin homology domain containing J1 Neighboring gene microRNA 1227 Neighboring gene microRNA 6789

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    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
     
    DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chromatin silencing at telomere IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 from RNA polymerase II promoter 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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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_032482.2NP_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)
      AC005263, AF509504, AL080221
      Consensus CDS
      CCDS42460.1
      UniProtKB/Swiss-Prot
      Q8TEK3
      Related
      ENSP00000381657.3, OTTHUMP00000197347, ENST00000398665.7, OTTHUMT00000318066
      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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 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). ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      2163729..2232081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center