Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84444
Gene name Gene Name - the full gene name approved by the HGNC.
DOT1 like histone lysine methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DOT1L
Synonyms (NCBI Gene) Gene synonyms aliases
DOT1, KMT4, NDNS
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT051846 hsa-let-7c-5p CLASH 23622248
MIRT049038 hsa-miR-92a-3p CLASH 23622248
MIRT440783 hsa-miR-485-5p HITS-CLIP 24374217
MIRT440782 hsa-miR-541-5p HITS-CLIP 24374217
MIRT440781 hsa-miR-412-3p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000077 Process DNA damage checkpoint signaling IBA
GO:0000781 Component Chromosome, telomeric region IEA
GO:0003676 Function Nucleic acid binding EXP 12628190
GO:0003677 Function DNA binding IEA
GO:0003713 Function Transcription coactivator activity IMP 22002246
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607375 24948 ENSG00000104885
Protein
UniProt ID Q8TEK3
Protein name Histone-lysine N-methyltransferase, H3 lysine-79 specific (EC 2.1.1.360) (DOT1-like protein) (Histone H3-K79 methyltransferase) (H3-K79-HMTase) (Lysine N-methyltransferase 4)
Protein function Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190).
PDB 1NW3 , 2MV7 , 3QOW , 3QOX , 3SR4 , 3SX0 , 3UWP , 4EK9 , 4EKG , 4EKI , 4EQZ , 4ER0 , 4ER3 , 4ER5 , 4ER6 , 4ER7 , 4HRA , 4WVL , 5DRT , 5DRY , 5DSX , 5DT2 , 5DTM , 5DTQ , 5DTR , 5JUW , 5MVS , 5MW3 , 5MW4 , 6IN3 , 6J99 , 6JM9 , 6JMA , 6JN2 , 6NJ9 , 6NN6 , 6NOG , 6NQA , 6O96 , 6TE6 , 6TEL , 6TEN , 7BWD , 7EDP , 7S7E , 7S7F , 7XCR , 7XCT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08123 DOT1 115 317 Histone methylation protein DOT1 Domain
Sequence
MGEKLELRLKSPVGAEPAVYPWPLPVYDKHHDAAHEIIETIRWVCEEIPDLKLAMENYVL
IDYDTKSFESMQRLCDKYNRAIDSIHQLWKGTTQPMKLNTRPSTGLLRHILQQVYNHSVT
DPEKLNNYEPFSPEVYGETSFDLVAQMIDEIKMTDDDLFVDLGSGVGQVVLQVAAATNCK
HHYGVEKADIPAKYAETMDREFRKWMKWYGKKHAEYTLERGDFLSEEWRERIANTSVIFV
NNFAFGPEVDHQLKERFANMKEGGRIVSSKPFAPLNFRINSRNLSDIGTIMRVVELSPLK
GSVSWTGKPVSYYLHTI
DRTILENYFSSLKNPKLREEQEAARRRQQRESKSNAATPTKGP
EGKVAGPADAPMDSGAEEEKAGAATVKKPSPSKARKKKLNKKGRKMAGRKRGRPKKMNTA
NPERKPKKNQTALDALHAQTVSQTAASSPQDAYRSPHSPFYQLPPSVQRHSPNPLLVAPT
PPALQKLLESFKIQYLQFLAYTKTPQYKASLQELLGQEKEKNAQLLGAAQQLLSHCQAQK
EEIRRLFQQKLDELGVKALTYNDLIQAQKEISAHNQQLREQSEQLEQDNRALRGQSLQLL
KARCEELQLDWATLSLEKLLKEKQALKSQISEKQRHCLELQISIVELEKSQRQQELLQLK
SCVPPDDALSLHLRGKGALGRELEPDASRLHLELDCTKFSLPHLSSMSPELSMNGQAAGY
ELCGVLSRPSSKQNTPQYLASPLDQEVVPCTPSHVGRPRLEKLSGLAAPDYTRLSPAKIV
LRRHLSQDHTVPGRPAASELHSRAEHTKENGLPYQSPSVPGSMKLSPQDPRPLSPGALQL
AGEKSSEKGLRERAYGSSGELITSLPISIPLSTVQPNKLPVSIPLASVVLPSRAERARST
PSPVLQPRDPSSTLEKQIGANAHGAGSRSLALAPAGFSYAGSVAISGALAGSPASLTPGA
EPATLDESSSSGSLFATVGSRSSTPQHPLLLAQPRNSLPASPAHQLSSSPRLGGAAQGPL
PEASKGDLPSDSGFSDPESEAKRRIVFTITTGAGSAKQSPSSKHSPLTASARGDCVPSHG
QDSRRRGRRKRASAGTPSLSAGVSPKRRALPSVAGLFTQPSGSPLNLNSMVSNINQPLEI
TAISSPETSLKSSPVPYQDHDQPPVLKKERPLSQTNGAHYSPLTSDEEPGSEDEPSSARI
ERKIATISLESKSPPKTLENGGGLAGRKPAPAGEPVNSSKWKSTFSPISDIGLAKSADSP
LQASSALSQNSLFTFRPALEEPSADAKLAAHPRKGFPGSLSGADGLSPGTNPANGCTFGG
GLAADLSLHSFSDGASLPHKGPEAAGLSSPLSFPSQRGKEGSDANPFLSKRQLDGLAGLK
GEGSRGKEAGEGGLPLCGPTDKTPLLSGKAAKARDREVDLKNGHNLFISAAAVPPGSLLS
GPGLAPAASSAGGAASSAQTHRSFLGPFPPGPQFALGPMSLQANLGSVAGSSVLQSLFSS
VPAAAGLVHVSSAATRLTNSHAMGSFSGVAGGTVGGN
Sequence length 1537
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Lysine degradation
Metabolic pathways
Transcriptional misregulation in cancer
  PKMTs methylate histone lysines
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 37595582
Adenocarcinoma of Lung Associate 27158780
Atherosclerosis Associate 24916648
Bone Diseases Associate 38072145
Bone Neoplasms Associate 30281149
Brain Injuries Associate 37595582
Breast Neoplasms Associate 35135840, 35850772
Carcinoma Associate 30281149
Carcinoma Renal Cell Associate 27713173, 37365941
Cell Transformation Viral Associate 29563185