Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DOT1L Gene

protein-coding   GIFtS: 60
GCID: GC19P002115

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

 Explore 5 diseases affiliated with
DOT1L via our new
 Human Malady Compendium 
Biological research products
for DOT1L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DOT1-Like, Histone H3 Methyltransferase (S. Cerevisiae)1 2     H3-K79-HMTase2 3
KMT41 2 3     DOT1-Like Protein2 3
DOT11 2 5     Histone Methyltransferase DOT1L2
KIAA18141 3 5     Histone-Lysine N-Methyltransferase, H3 Lysine-79 Specific2
Histone H3-K79 Methyltransferase2 3     EC 2.1.1.433
Lysine N-Methyltransferase 42 3     

External Ids:    HGNC: 249481   Entrez Gene: 844442   Ensembl: ENSG000001048857   OMIM: 6073755   UniProtKB: Q8TEK33   

Export aliases for DOT1L gene to outside databases

Previous GC identifers: GC19P002248 GC19P002104 GC19P001935


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DOT1L:
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)

UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3
Function: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared
to free histones. Binds to DNA

Gene Wiki entry for DOT1L


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DOT1L gene promoter:
         Sp1   GCNF   NRSF form 1   MIF-1   NRSF form 2   GATA-2   FOXI1   GCNF-1   Pax-4a   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDOT1L promoter sequence
   Search SABiosciences Chromatin IP Primers for DOT1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOT1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

DOT1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DOT1L gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P002115:  view genomic region     (about GC identifiers)

Start:
2,164,148 bp from pter      End:
2,232,577 bp from pter
Size:
68,430 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase, H3 lysine-79 specific  
Size: 1739 amino acids; 184853 Da
Subunit: Interacts with MLLT10
Subcellular location: Nucleus (Probable)
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
Sequence caution: Sequence=AAC08316.1; Type=Erroneous gene model prediction;
6/15 PDB 3D structures from and Proteopedia for DOT1L (see all 15):
1NW3 (3D)        3QOW (3D)        3QOX (3D)        3SR4 (3D)        3SX0 (3D)        3UWP (3D)    
Secondary accessions: O60379 Q96JL1
Alternative splicing: 2 isoforms:  Q8TEK3-1   Q8TEK3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DOT1L: NX_Q8TEK3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TEK3

  • DOT1L Protein expression data from MOPED and PaxDb:    About this image 
    DOT1L Protein Expression
    REFSEQ proteins: NP_115871.1  
    ENSEMBL proteins: 
     ENSP00000381657   ENSP00000404284   ENSP00000388276   ENSP00000407411   ENSP00000412916  

    Human Recombinant Protein Products for DOT1L: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: DOT1L
    OriGene Custom Protein Services for DOT1L 
    GenScript Custom Purified and Recombinant Proteins Services for DOT1L
    Novus Biologicals DOT1L Protein
    Novus Biologicals DOT1L Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DOT1L

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    DOT1L for ontologies           About GeneDecksing



    DOT1L Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of DOT1L
    R&D Systems Antibodies for DOT1L
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DOT1L 
    GenScript Custom Superior Antibodies Services for DOT1L
    Novus Biologicals DOT1L Antibodies
    Abcam antibodies for DOT1L 
    Uscn Antibodies for DOT1L
    Search ThermoFisher Antibodies for DOT1L

    Assay Products for DOT1L: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DOT1L
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DOT1L


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DOT1L for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017956 AT_hook_DNA-bd_motif
     IPR013110 DOT1
     IPR025789 Histone_H3-K79_MeTrfase
     IPR021169 Histone_H3-K79_MeTrfase_met

    Graphical View of Domain Structure for InterPro Entry Q8TEK3

    ProtoNet protein and cluster: Q8TEK3

    UniProtKB/Swiss-Prot: DOT1L_HUMAN, Q8TEK3
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family
    Similarity: Contains 1 DOT1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOT1L_HUMAN, Q8TEK3
    Function: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared
    to free histones. Binds to DNA
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI--
    GO:0008134transcription factor binding IPI--
    GO:0018024histone-lysine N-methyltransferase activity IDA17707234
    GO:0042054histone methyltransferase activity ----
         
    DOT1L for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Dot1l):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  muscle  vision/eye 

    DOT1L for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Dot1ltm1.1Tche for DOT1L
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DOT1L 

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: DOT1L
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOT1L
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate DOT1L (see all 49):
    hsa-miR-548j hsa-miR-429 hsa-let-7d hsa-miR-513a-5p hsa-miR-29a hsa-miR-128 hsa-let-7g hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDOT1L 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOT1L (see all 7)
    OriGene shRNA RFP: DOT1L
    OriGene siRNA: DOT1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOT1L
    Sirion Biotech Custom design and validation of potent shRNA sequences against DOT1L 

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DOT1L
    Sirion Biotech Customized adenovirus for overexpression of DOT1L 
    Sirion Biotech Customized adenovirus for potent knockdown of DOT1L

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DOT1L (NM_032482)
    Sino Biological Human cDNA Clone for DOT1L
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOT1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOT1L 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DOT1L
    Search LifeMap BioReagents cell lines for DOT1L
    Sirion Biotech Customized stable knockdown cell line services for DOT1L 
    Sirion Biotech Customized inducible knockdown cell line services for DOT1L

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOT1L


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysine degradation
    Lysine degradation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for DOT1L):
        Lysine degradation


    DOT1L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DOT1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/35 Interacting proteins for DOT1L (Q8TEK31, 2, 3 ENSP000003816574) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLLT1Q031111, 3, ENSP000002526744EBI-2619253,EBI-1384215 I2D: score=2 STRING: ENSP00000252674
    BAG6P463792, ENSP000003651314MINT-8380894 MINT-8380903 STRING: ENSP00000365131
    MLLT3P425683, ENSP000003696954I2D: score=2 STRING: ENSP00000369695
    CCNT1O605633, ENSP000002619004I2D: score=1 STRING: ENSP00000261900
    GNL3Q9BVP23, ENSP000003957724I2D: score=1 STRING: ENSP00000395772
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016571histone methylation ----
    GO:0034968histone lysine methylation IDA17707234
    GO:0046425regulation of JAK-STAT cascade IDA--
    GO:2000677regulation of transcription regulatory region DNA binding IMP--

    DOT1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DOT1L for compounds           About GeneDecksing

    EMD Millipore small molecules for DOT1L:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DOT1L

    3 HMDB Compounds for DOT1L    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Lysine(+)-S-Lysine (see all 25)56-87-1--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    1 Novoseek chemical compound relationship for DOT1L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 58.4 2 14572310 (1), 18065378 (1)

    Search CenterWatch for drugs/clinical trials and news about DOT1L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DOT1L gene: 
    NM_032482.2  

    Unigene Cluster for DOT1L:

    DOT1-like, histone H3 methyltransferase (S. cerevisiae)
    Hs.713641  [show with all ESTs]
    Unigene Representative Sequence: NM_032482
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000398665(uc002lvb.4 uc002lvc.1) ENST00000478937 ENST00000452696
    ENST00000592459 ENST00000440640 ENST00000591498 ENST00000586024 ENST00000472540
    ENST00000482433(uc002lve.1) ENST00000457590 ENST00000446286

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: DOT1L
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DOT1L
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate DOT1L (see all 49):
    hsa-miR-548j hsa-miR-429 hsa-let-7d hsa-miR-513a-5p hsa-miR-29a hsa-miR-128 hsa-let-7g hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDOT1L 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOT1L (see all 7)
    OriGene shRNA RFP: DOT1L
    OriGene siRNA: DOT1L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOT1L
    Sirion Biotech Custom design and validation of potent shRNA sequences against DOT1L 
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DOT1L (NM_032482)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DOT1L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOT1L 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOT1L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DOT1L
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOT1L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOT1L

    Additional cDNA sequence: 

    AB058717.1 AF509504.1 AK074120.1 AL080221.1 BC021037.1 BC032803.1 

    15 DOTS entries:

    DT.100024459  DT.99936606  DT.100749671  DT.310751  DT.121414401  DT.92418676  DT.95159594  DT.100001366 
    DT.100749670  DT.443785  DT.92033664  DT.95205123  DT.95219318  DT.100884259  DT.91967410 

    24/175 AceView cDNA sequences (see all 175):

    BU191550 BQ673798 BU948021 AL040709 BM725109 AA831699 CA433459 BM710320 
    BU623754 AB058717 BF343473 AF509504 CA433891 BM797557 BU180946 CB528521 
    BF507396 AK074120 BQ229264 AA310116 BU622332 AA584872 AI026903 BF982417 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DOT1L (see all 6)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for DOT1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DOT1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGCCCGCCG
    DOT1L Expression
    About this image
    See DOT1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DOT1L

    SOURCE GeneReport for Unigene cluster: Hs.713641
        SABiosciences Expression via Pathway-Focused PCR Array including DOT1L: 

              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOT1L
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DOT1L
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOT1L
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOT1L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOT1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DOT1L gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dot1l1 , 5 DOT1-like, histone H3 methyltransferase (S. cerevisiae) less1, 5 82.31(n)1
    84.79(a)1
      10 (39.72 cM)5
    2082661  NM_199322.11  NP_955354.11 
     807552065 
    chicken
    (Gallus gallus)
    Aves DOT1L1 DOT1-like, histone H3 methyltransferase (S. cerevisiae) less 74.71(n)
    77.01(a)
      420078  XM_003642862.1  XP_003642910.1 
    lizard
    (Anolis carolinensis)
    Reptilia DOT1L6
    --
    96(a)
    1 ↔ 1
    AAWZ02039615(3100-8144)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145612 Xenopus laevis transcribed sequences 78.77(n)    BJ065417.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI864981.12   -- 84.81(n)    BI864981.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta gpp6
    grappa
    17(a)
    1 ↔ 1
    3R(2232579-2273729)
    worm
    (Caenorhabditis elegans)
    Secernentea F54F7.76
    ZC53.66
    (see all 5)
    Protein ZC53.6
    (see all 5)
    25(a)
    24(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    X(11867903-11869292)
    X(1917463-1919703)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1422 NCBI SNPs in DOT1L are shown (see all 1422    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1129288301,2
    --1933067(+) CCTCCC/TGGACT 1 -- us2k12Minor allele frequency- T:0.07CSA WA 120
    rs1135362871,2
    C--1933432(+) GCATCT/CCTACT 1 -- us2k12Minor allele frequency- C:0.11WA 120
    rs771205371,2
    --1933630(+) AAAAAA/CCCCCA 1 -- us2k10--------
    rs1999991621,2
    C--1933634(-) TTTTTG/TGGGTT 1 -- us2k10--------
    rs742542171,2
    --1933860(+) AAACCA/GCCTTT 1 -- us2k10--------
    rs1115176541,2
    --1934419(+) ATCACC/TGCGCC 1 -- us2k13Minor allele frequency- T:0.10CSA WA 121
    rs9604911,2
    C,F,H--1935506(+) CCCGCC/TCCGCT 1 -- int16Minor allele frequency- T:0.18MN NS NA 1050
    rs1911569741,2
    C--1935890(+) TTTGTC/TTTCTT 1 -- int10--------
    rs735144201,2
    C,F--1935930(+) CCGGGT/AGGAAT 1 -- int14Minor allele frequency- A:0.20WA CSA 124
    rs1119947281,2
    C--1936289(+) TGCCCG/CGGGTC 1 -- int11Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for DOT1L (2164148 - 2232577 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for DOT1L
         2 CNVs: 5068 5067

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOT1L
    DNA2.0 Custom Variant and Variant Library Synthesis for DOT1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DOT1L for disorders           About GeneDecksing

    OMIM gene information: 607375    OMIM disorders: --

    5 diseases for DOT1L:    About MalaCards
    aldosteronism    homocysteine    hepatocellular carcinoma    carcinoma
    leukemia

    1 disease from the University of Copenhagen DISEASES database for DOT1L:
    Leukemia
    Human Genome Epidemiology (HuGE) Navigator: DOT1L (3 documents)

    Export disorders for DOT1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DOT1L gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with DOT1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain. (PubMed id 12123582)1, 2, 3 Feng Q....Zhang Y. (2002)
    2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (2001)
    3. Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase. (PubMed id 12628190)1, 2, 9 Min J.... Xu R.-M. (2003)
    4. hDOT1L links histone methylation to leukemogenesis. (PubMed id 15851025)1, 2 Okada Y.... Zhang Y. (2005)
    5. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PubMed id 12693554)1, 2 Jikuya H....Ohara O. (2003)
    6. Characterization of the DOT1L network: implications o f diverse roles for DOT1L. (PubMed id 20431927)1, 9 Park G....Kim J.E. (2010)
    7. Linking H3K79 trimethylation to Wnt signaling through a novel Dot1-containing complex (DotCom). (PubMed id 20203130)1, 9 Mohan M....Shilatifard A. (2010)
    8. Impaired recruitment of the histone methyltransferase DOT1L contributes to the incomplete reactivation of tumor suppressor genes upo n DNA demethylation. (PubMed id 19734945)1, 9 Jacinto F.V....Esteller M. (2009)
    9. Genome-wide association and functional studies identif y the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis. (PubMed id 22566624)1 Castano Betancourt M.C....van Meurs J.B. (2012)
    10. Histone monoubiquitylation position determines specifi city and direction of enzymatic cross-talk with histone methyltransferases Dot1L and PRC2. (PubMed id 22619169)1 Whitcomb S.J....Allis C.D. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84444 HGNC: 24948 AceView: DOT1L Ensembl:ENSG00000104885 euGenes: HUgn84444
    ECgene: DOT1L Kegg: 84444 H-InvDB: DOT1L

    (According to HUGE)
    About This Section
    HUGE: KIAA1814

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DOT1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DOT1L gene:
    Search GeneIP for patents involving DOT1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of DOT1L
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore small molecules (inhibitor) for DOT1L
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for DOT1L (DOT1L)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DOT1L  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DOT1L   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DOT1L  
     OriGene Protein Over-expression Lysate for DOT1L   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DOT1L   OriGene 3'-UTR Clone for DOT1L  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DOT1L  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DOT1L   OriGene Custom Protein Services for DOT1L  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DOT1L
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DOT1L
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DOT1L
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DOT1L
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DOT1L
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DOT1L
     GenScript Custom Purified and Recombinant Proteins Services for DOT1L GenScript cDNA clones with any tag delivered in your preferred vector for DOT1L
     GenScript Custom Assay Services for DOT1L GenScript Custom Superior Antibodies Services for DOT1L
     GenScript Custom overexpressing Cell Line Services for DOT1L CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DOT1L promoter
     Search Chromatin IP Primers for DOT1L
     RT2 qPCR Primer Assay in human, mouse, rat DOT1L
     GNC Network for DOT1L
     SABiosciences PCR Arrays including human, mouse, rat DOT1L
     Search Tocris compounds for DOT1L
     Browse Sino Biological Proteins and Antibodies
     cDNA Clones for DOT1L
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DOT1L antibodies
     DOT1L proteins
     DOT1L lysates
     Antibodies for DOT1L
     See all of Abcam's Antibodies, Kits and Proteins for DOT1L
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DOT1L Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DOT1L
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DOT1L
     SwitchGear 3'UTR luciferase reporter plasmids for DOT1L
     SwitchGear Promoter luciferase reporter plasmids for DOT1L
     Search ThermoFisher Antibodies for DOT1L
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DOT1L
     inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DOT1L
    Sirion Biotech Customized:
     stable knockdown cell line services for DOT1L
     inducible knockdown cell line services for DOT1L
     design and validation of potent shRNA sequences against DOT1L
     adenovirus for potent knockdown of DOT1L
     adenovirus for overexpression of DOT1L
     stable overexpressing cell line services
     inducible overexpressing cell line services
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DOT1L gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4