Gene Gene information from NCBI Gene database.
Entrez ID 84444
Gene name DOT1 like histone lysine methyltransferase
Gene symbol DOT1L
Synonyms (NCBI Gene)
DOT1KMT4NDNS
Chromosome 19
Chromosome location 19p13.3
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
miRNA miRNA information provided by mirtarbase database.
485
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607375 24948 ENSG00000104885
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acth-Independent Macronodular Adrenal Hyperplasia Cushing`s Syndrome BEFREE 24700472
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 28337327, 29335872, 29724899, 30374167
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27158780
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 31433981
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 23354108
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24916648 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 38072145 Associate
★☆☆☆☆
Found in Text Mining only
Bone Neoplasms Bone neoplasm Pubtator 30281149 Associate
★☆☆☆☆
Found in Text Mining only
Brain Injuries Brain injuries Pubtator 37595582 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25359765, 26783998, 30775443, 31689915
★★☆☆☆
Found in Text Mining + Unknown/Other Associations