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Aliases for DOT1L Gene

Aliases for DOT1L Gene

  • DOT1 Like Histone H3K79 Methyltransferase 2 3
  • DOT1-Like Histone H3K79 Methyltransferase 3 5
  • Histone H3-K79 Methyltransferase 3 4
  • Histone Methyltransferase DOT1L 2 3
  • Lysine N-Methyltransferase 4 3 4
  • DOT1-Like Protein 3 4
  • H3-K79-HMTase 3 4
  • KMT4 3 4
  • DOT1-Like, Histone H3 Methyltransferase (S. Cerevisiae) 2
  • DOT1-Like, Histone H3 Methyltransferase 3
  • EC 2.1.1.43 4
  • KIAA1814 4
  • DOT1 3

External Ids for DOT1L Gene

Previous GeneCards Identifiers for DOT1L Gene

  • GC19P002248
  • GC19P002104
  • GC19P002115
  • GC19P001935

Summaries for DOT1L Gene

Entrez Gene Summary for DOT1L Gene

  • 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]

GeneCards Summary for DOT1L Gene

DOT1L (DOT1 Like Histone H3K79 Methyltransferase) is a Protein Coding gene. Diseases associated with DOT1L include epididymo-orchitis and diffuse gastric cancer. Among its related pathways are Lysine degradation and Chromatin organization. GO annotations related to this gene include transcription factor binding and histone methyltransferase activity.

UniProtKB/Swiss-Prot for DOT1L Gene

  • Histone methyltransferase. Methylates Lys-79 of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA.

Tocris Summary for DOT1L Gene

Gene Wiki entry for DOT1L Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOT1L Gene

Genomics for DOT1L Gene

Regulatory Elements for DOT1L Gene

Promoters for DOT1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DOT1L on UCSC Golden Path with GeneCards custom track

Genomic Location for DOT1L Gene

Chromosome:
19
Start:
2,164,127 bp from pter
End:
2,232,578 bp from pter
Size:
68,452 bases
Orientation:
Plus strand

Genomic View for DOT1L Gene

Genes around DOT1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOT1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOT1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOT1L Gene

Proteins for DOT1L Gene

  • Protein details for DOT1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEK3-DOT1L_HUMAN
    Recommended name:
    Histone-lysine N-methyltransferase, H3 lysine-79 specific
    Protein Accession:
    Q8TEK3
    Secondary Accessions:
    • O60379
    • Q96JL1

    Protein attributes for DOT1L Gene

    Size:
    1739 amino acids
    Molecular mass:
    184853 Da
    Quaternary structure:
    • Interacts with MLLT10.
    Miscellaneous:
    • In contrast to other lysine histone methyltransferases, it does not contain a SET domain, suggesting the existence of another mechanism for methylation of lysine residues of histones.
    SequenceCaution:
    • Sequence=AAC08316.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DOT1L Gene

    Alternative splice isoforms for DOT1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOT1L Gene

Proteomics data for DOT1L Gene at MOPED

Post-translational modifications for DOT1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOT1L Gene

Antibody Products

No data available for DME Specific Peptides for DOT1L Gene

Domains & Families for DOT1L Gene

Gene Families for DOT1L Gene

Protein Domains for DOT1L Gene

Suggested Antigen Peptide Sequences for DOT1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEK3

UniProtKB/Swiss-Prot:

DOT1L_HUMAN :
  • Contains 1 DOT1 domain.
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family.
Domain:
  • Contains 1 DOT1 domain.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family.
genes like me logo Genes that share domains with DOT1L: view

Function for DOT1L Gene

Molecular function for DOT1L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase. Methylates Lys-79 of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA.

Enzyme Numbers (IUBMB) for DOT1L Gene

Gene Ontology (GO) - Molecular Function for DOT1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018024 histone-lysine N-methyltransferase activity IEA,TAS --
GO:0042054 histone methyltransferase activity IEA --
genes like me logo Genes that share ontologies with DOT1L: view
genes like me logo Genes that share phenotypes with DOT1L: view

Animal Models for DOT1L Gene

MGI Knock Outs for DOT1L:

Animal Model Products

  • Taconic Biosciences Mouse Models for DOT1L

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOT1L Gene

Localization for DOT1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOT1L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOT1L Gene COMPARTMENTS Subcellular localization image for DOT1L gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for DOT1L Gene

Pathways & Interactions for DOT1L Gene

genes like me logo Genes that share pathways with DOT1L: view

Pathways by source for DOT1L Gene

1 GeneTex pathway for DOT1L Gene

Gene Ontology (GO) - Biological Process for DOT1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046425 regulation of JAK-STAT cascade IDA 22002246
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with DOT1L: view

No data available for SIGNOR curated interactions for DOT1L Gene

Drugs & Compounds for DOT1L Gene

(12) Drugs for DOT1L Gene - From: DGIdb, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Entacapone Approved, Investigational Pharma COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation 47
L-Lysine Approved Nutra Full agonist, Agonist 0
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
EPZ004777 Pharma DOT1L inhibitor 0
genes like me logo Genes that share compounds with DOT1L: view

Transcripts for DOT1L Gene

Unigene Clusters for DOT1L Gene

DOT1-like, histone H3 methyltransferase (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DOT1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - - -
SP2: -
SP3: - -
SP4:
SP5:
SP6:

ExUns: 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for DOT1L Gene

GeneLoc Exon Structure for
DOT1L
ECgene alternative splicing isoforms for
DOT1L

Expression for DOT1L Gene

mRNA expression in normal human tissues for DOT1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOT1L Gene

This gene is overexpressed in Testis (x6.5).

Protein differential expression in normal tissues from HIPED for DOT1L Gene

This gene is overexpressed in Breast (44.3) and Bone (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DOT1L Gene



SOURCE GeneReport for Unigene cluster for DOT1L Gene Hs.713641

genes like me logo Genes that share expression patterns with DOT1L: view

Protein tissue co-expression partners for DOT1L Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DOT1L Gene

Orthologs for DOT1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOT1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOT1L 35
  • 99.24 (n)
  • 99.28 (a)
DOT1L 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOT1L 36
  • 75 (a)
OneToOne
DOT1L 35
  • 84.5 (n)
  • 85.83 (a)
dog
(Canis familiaris)
Mammalia DOT1L 35
  • 85.25 (n)
  • 86.5 (a)
DOT1L 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dot1l 36
  • 84 (a)
OneToOne
Dot1l 16
Dot1l 35
  • 82.31 (n)
  • 84.79 (a)
oppossum
(Monodelphis domestica)
Mammalia DOT1L 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dot1l 35
  • 83.03 (n)
  • 84.53 (a)
chicken
(Gallus gallus)
Aves DOT1L 36
  • 75 (a)
OneToOne
DOT1L 35
  • 75.02 (n)
  • 77.49 (a)
lizard
(Anolis carolinensis)
Reptilia DOT1L 36
  • 97 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14561 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dot1l 35
  • 65.39 (n)
  • 67.82 (a)
zebrafish
(Danio rerio)
Actinopterygii dot1l 36
  • 52 (a)
OneToOne
dot1l 35
  • 65.26 (n)
  • 65.32 (a)
fruit fly
(Drosophila melanogaster)
Insecta gpp 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea dot-1.1 36
  • 20 (a)
OneToMany
dot-1.2 36
  • 26 (a)
OneToMany
dot-1.3 36
  • 25 (a)
OneToMany
dot-1.4 36
  • 26 (a)
OneToMany
dot-1.5 36
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DOT1 36
  • 17 (a)
OneToOne
Species with no ortholog for DOT1L:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOT1L Gene

ENSEMBL:
Gene Tree for DOT1L (if available)
TreeFam:
Gene Tree for DOT1L (if available)

Paralogs for DOT1L Gene

No data available for Paralogs for DOT1L Gene

Variants for DOT1L Gene

Sequence variations from dbSNP and Humsavar for DOT1L Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_014287 -
rs3815308 - 2,226,677(+) GCCGC(A/G)GCAAG reference, missense
rs2302061 - 2,226,773(+) GCGAG(C/G)TCGAC reference, missense
rs2302062 -- 2,226,856(+) CTGGC(C/T)CCGGC reference, synonymous-codon
rs2108524 -- 2,170,765(+) gtcct(C/G/T)tggtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOT1L Gene

Variant ID Type Subtype PubMed ID
nsv910499 CNV Loss 21882294
dgv3614n71 CNV Loss 21882294
dgv3622n71 CNV Loss 21882294
dgv3626n71 CNV Loss 21882294
nsv910623 CNV Loss 21882294
nsv910626 CNV Loss 21882294
dgv3629n71 CNV Loss 21882294
dgv3630n71 CNV Loss 21882294
nsv910631 CNV Loss 21882294
nsv833706 CNV Loss 17160897
nsv470108 CNV Loss 18288195
dgv3631n71 CNV Loss 21882294
nsv833707 CNV Loss 17160897
nsv2389 CNV Insertion 18451855
nsv828393 CNV Loss 20364138
nsv828394 CNV Gain 20364138
nsv910636 CNV Loss 21882294
nsv828395 CNV Loss 20364138
dgv3632n71 CNV Loss 21882294

Variation tolerance for DOT1L Gene

Residual Variation Intolerance Score: 0.596% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.43; 81.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOT1L Gene

HapMap Linkage Disequilibrium report
DOT1L
Human Gene Mutation Database (HGMD)
DOT1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOT1L Gene

Disorders for DOT1L Gene

MalaCards: The human disease database

(3) MalaCards diseases for DOT1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epididymo-orchitis
diffuse gastric cancer
  • signet ring cell carcinoma
hematologic cancer
  • blood cancer
- elite association - COSMIC cancer census association via MalaCards
Search DOT1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for DOT1L

Genetic Association Database (GAD)
DOT1L
Human Genome Epidemiology (HuGE) Navigator
DOT1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOT1L
genes like me logo Genes that share disorders with DOT1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOT1L Gene

Publications for DOT1L Gene

  1. Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain. (PMID: 12123582) Feng Q. … Zhang Y. (Curr. Biol. 2002) 2 3 4 67
  2. Characterization of the DOT1L network: implications of diverse roles for DOT1L. (PMID: 20431927) Park G. … Kim J.E. (Protein J. 2010) 3 23
  3. Linking H3K79 trimethylation to Wnt signaling through a novel Dot1-containing complex (DotCom). (PMID: 20203130) Mohan M. … Shilatifard A. (Genes Dev. 2010) 3 23
  4. Impaired recruitment of the histone methyltransferase DOT1L contributes to the incomplete reactivation of tumor suppressor genes upon DNA demethylation. (PMID: 19734945) Jacinto F.V. … Esteller M. (Oncogene 2009) 3 23
  5. Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase. (PMID: 12628190) Min J. … Xu R.-M. (Cell 2003) 3 23

Products for DOT1L Gene

Sources for DOT1L Gene

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