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Entry version 176 (16 Oct 2019)
Sequence version 3 (12 Sep 2018)
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Protein

Histone-lysine N-methyltransferase, H3 lysine-79 specific

Gene

DOT1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190).2 Publications

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei186S-adenosyl-L-methionine1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator, DNA-binding, Methyltransferase, Transferase
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3214841 PKMTs methylate histone lysines

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8TEK3

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histone-lysine N-methyltransferase, H3 lysine-79 specificCurated (EC:2.1.1.431 Publication)
Alternative name(s):
DOT1-like protein
Histone H3-K79 methyltransferase
Short name:
H3-K79-HMTase
Lysine N-methyltransferase 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DOT1LImported
Synonyms:KIAA1814, KMT4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24948 DOT1L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607375 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TEK3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi163 – 165GSG → RCR: Abolishes methyltransferase activity. 1 Publication3
Mutagenesisi241N → A or D: Loss of activity. 1 Publication1
Mutagenesisi312Y → A: Loss of activity. 1 Publication1
Mutagenesisi312Y → F: No effect. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
84444

Open Targets

More...
OpenTargetsi
ENSG00000104885

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993717

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TEK3

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1795117

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2650

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DOT1L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
25090171

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860891 – 1537Histone-lysine N-methyltransferase, H3 lysine-79 specificAdd BLAST1537

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei297PhosphoserineCombined sources1
Modified residuei374PhosphoserineCombined sources1
Modified residuei448PhosphoserineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei480PhosphothreonineCombined sources1
Modified residuei775PhosphoserineCombined sources1
Modified residuei786PhosphoserineCombined sources1
Modified residuei826PhosphoserineCombined sources1
Modified residuei834PhosphoserineCombined sources1
Modified residuei900PhosphothreonineCombined sources1
Modified residuei902PhosphoserineCombined sources1
Modified residuei984PhosphothreonineCombined sources1
Modified residuei997PhosphoserineCombined sources1
Modified residuei1001PhosphoserineCombined sources1
Modified residuei1009PhosphoserineCombined sources1
Modified residuei1035PhosphoserineCombined sources1
Modified residuei1093PhosphoserineCombined sources1
Modified residuei1104PhosphoserineCombined sources1
Modified residuei1213PhosphoserineCombined sources1
Modified residuei1246PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8TEK3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TEK3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TEK3

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TEK3

PeptideAtlas

More...
PeptideAtlasi
Q8TEK3

PRoteomics IDEntifications database

More...
PRIDEi
Q8TEK3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74468 [Q8TEK3-1]
74469 [Q8TEK3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TEK3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TEK3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000104885 Expressed in 144 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TEK3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TEK3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA011875
HPA071217

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MLLT10.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124082, 55 interactors

Database of interacting proteins

More...
DIPi
DIP-56410N

Protein interaction database and analysis system

More...
IntActi
Q8TEK3, 29 interactors

Molecular INTeraction database

More...
MINTi
Q8TEK3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000381657

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11537
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8TEK3

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q8TEK3

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini16 – 330DOT1PROSITE-ProRule annotationAdd BLAST315

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni136 – 139S-adenosyl-L-methionine binding4
Regioni159 – 168S-adenosyl-L-methionine binding10
Regioni222 – 223S-adenosyl-L-methionine binding2
Regioni391 – 416Required for interaction with nucleosomes and DNA1 PublicationAdd BLAST26

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the class I-like SAM-binding methyltransferase superfamily. DOT1 family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3924 Eukaryota
ENOG410XSYC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013515

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000143530

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TEK3

KEGG Orthology (KO)

More...
KOi
K11427

Identification of Orthologs from Complete Genome Data

More...
OMAi
SRAEHTK

Database of Orthologous Groups

More...
OrthoDBi
88676at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TEK3

TreeFam database of animal gene trees

More...
TreeFami
TF106393

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR025789 DOT1_dom
IPR021169 DOT1L/grappa
IPR030445 H3-K79_meTrfase
IPR029063 SAM-dependent_MTases

The PANTHER Classification System

More...
PANTHERi
PTHR21451 PTHR21451, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08123 DOT1, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF037123 Histone_H3-K79_MeTrfase_met, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335 SSF53335, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51569 DOT1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TEK3-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGEKLELRLK SPVGAEPAVY PWPLPVYDKH HDAAHEIIET IRWVCEEIPD
60 70 80 90 100
LKLAMENYVL IDYDTKSFES MQRLCDKYNR AIDSIHQLWK GTTQPMKLNT
110 120 130 140 150
RPSTGLLRHI LQQVYNHSVT DPEKLNNYEP FSPEVYGETS FDLVAQMIDE
160 170 180 190 200
IKMTDDDLFV DLGSGVGQVV LQVAAATNCK HHYGVEKADI PAKYAETMDR
210 220 230 240 250
EFRKWMKWYG KKHAEYTLER GDFLSEEWRE RIANTSVIFV NNFAFGPEVD
260 270 280 290 300
HQLKERFANM KEGGRIVSSK PFAPLNFRIN SRNLSDIGTI MRVVELSPLK
310 320 330 340 350
GSVSWTGKPV SYYLHTIDRT ILENYFSSLK NPKLREEQEA ARRRQQRESK
360 370 380 390 400
SNAATPTKGP EGKVAGPADA PMDSGAEEEK AGAATVKKPS PSKARKKKLN
410 420 430 440 450
KKGRKMAGRK RGRPKKMNTA NPERKPKKNQ TALDALHAQT VSQTAASSPQ
460 470 480 490 500
DAYRSPHSPF YQLPPSVQRH SPNPLLVAPT PPALQKLLES FKIQYLQFLA
510 520 530 540 550
YTKTPQYKAS LQELLGQEKE KNAQLLGAAQ QLLSHCQAQK EEIRRLFQQK
560 570 580 590 600
LDELGVKALT YNDLIQAQKE ISAHNQQLRE QSEQLEQDNR ALRGQSLQLL
610 620 630 640 650
KARCEELQLD WATLSLEKLL KEKQALKSQI SEKQRHCLEL QISIVELEKS
660 670 680 690 700
QRQQELLQLK SCVPPDDALS LHLRGKGALG RELEPDASRL HLELDCTKFS
710 720 730 740 750
LPHLSSMSPE LSMNGQAAGY ELCGVLSRPS SKQNTPQYLA SPLDQEVVPC
760 770 780 790 800
TPSHVGRPRL EKLSGLAAPD YTRLSPAKIV LRRHLSQDHT VPGRPAASEL
810 820 830 840 850
HSRAEHTKEN GLPYQSPSVP GSMKLSPQDP RPLSPGALQL AGEKSSEKGL
860 870 880 890 900
RERAYGSSGE LITSLPISIP LSTVQPNKLP VSIPLASVVL PSRAERARST
910 920 930 940 950
PSPVLQPRDP SSTLEKQIGA NAHGAGSRSL ALAPAGFSYA GSVAISGALA
960 970 980 990 1000
GSPASLTPGA EPATLDESSS SGSLFATVGS RSSTPQHPLL LAQPRNSLPA
1010 1020 1030 1040 1050
SPAHQLSSSP RLGGAAQGPL PEASKGDLPS DSGFSDPESE AKRRIVFTIT
1060 1070 1080 1090 1100
TGAGSAKQSP SSKHSPLTAS ARGDCVPSHG QDSRRRGRRK RASAGTPSLS
1110 1120 1130 1140 1150
AGVSPKRRAL PSVAGLFTQP SGSPLNLNSM VSNINQPLEI TAISSPETSL
1160 1170 1180 1190 1200
KSSPVPYQDH DQPPVLKKER PLSQTNGAHY SPLTSDEEPG SEDEPSSARI
1210 1220 1230 1240 1250
ERKIATISLE SKSPPKTLEN GGGLAGRKPA PAGEPVNSSK WKSTFSPISD
1260 1270 1280 1290 1300
IGLAKSADSP LQASSALSQN SLFTFRPALE EPSADAKLAA HPRKGFPGSL
1310 1320 1330 1340 1350
SGADGLSPGT NPANGCTFGG GLAADLSLHS FSDGASLPHK GPEAAGLSSP
1360 1370 1380 1390 1400
LSFPSQRGKE GSDANPFLSK RQLDGLAGLK GEGSRGKEAG EGGLPLCGPT
1410 1420 1430 1440 1450
DKTPLLSGKA AKARDREVDL KNGHNLFISA AAVPPGSLLS GPGLAPAASS
1460 1470 1480 1490 1500
AGGAASSAQT HRSFLGPFPP GPQFALGPMS LQANLGSVAG SSVLQSLFSS
1510 1520 1530
VPAAAGLVHV SSAATRLTNS HAMGSFSGVA GGTVGGN
Note: No experimental confirmation available.
Length:1,537
Mass (Da):164,856
Last modified:September 12, 2018 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9CEA12850DC4ACB1
GO
Isoform 2 (identifier: Q8TEK3-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1537-1537: N → VVFNHAVPSA...AAHLSGVKPR

Show »
Length:1,739
Mass (Da):184,853
Checksum:iEBA575CE3C090CAC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JH95C9JH95_HUMAN
Histone-lysine N-methyltransferase,...
DOT1L
208Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GY76V9GY76_HUMAN
Histone-lysine N-methyltransferase,...
DOT1L
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C2S2H7C2S2_HUMAN
Histone-lysine N-methyltransferase,...
DOT1L
653Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X1A7A0A087X1A7_HUMAN
Histone-lysine N-methyltransferase,...
DOT1L
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3N3H7C3N3_HUMAN
Histone-lysine N-methyltransferase,...
DOT1L
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC08316 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti210G → E in BAB84946 (PubMed:12693554).Curated1
Sequence conflicti454 – 467RSPHS…LPPSV → TLRTPSGSPRRTKL (PubMed:11347906).CuratedAdd BLAST14
Sequence conflicti464P → L in BAB84946 (PubMed:12693554).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_014287726L → M. Corresponds to variant dbSNP:rs880525Ensembl.1
Natural variantiVAR_0142881386G → S. Corresponds to variant dbSNP:rs3815308Ensembl.1
Natural variantiVAR_0142891418V → L. Corresponds to variant dbSNP:rs2302061Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0597951537N → VVFNHAVPSASAHPFGARVG RGAACGSATLGPSPLQAAAS ASASSFQAPASVETRPPPPP PPPPPPLPPPAHLGRSPAGP PVLHAPPPPNAALPPPPTLL ASNPEPALLQSLASLPPNQA FLPPTSAASLPPANASLSIK LTSLPHKGARPSFTVHHQPL PRLALAQAAPGIPQASATGP SAVWVSLGMPPPYAAHLSGV KPR in isoform 2. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF509504 mRNA Translation: AAM88322.1
AC004490 Genomic DNA Translation: AAC08316.1 Sequence problems.
AB058717 mRNA Translation: BAB47443.1
AK074120 mRNA Translation: BAB84946.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS42460.1 [Q8TEK3-2]

NCBI Reference Sequences

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RefSeqi
NP_115871.1, NM_032482.2 [Q8TEK3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000398665; ENSP00000381657; ENSG00000104885 [Q8TEK3-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84444

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84444

UCSC genome browser

More...
UCSCi
uc002lvb.4 human [Q8TEK3-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF509504 mRNA Translation: AAM88322.1
AC004490 Genomic DNA Translation: AAC08316.1 Sequence problems.
AB058717 mRNA Translation: BAB47443.1
AK074120 mRNA Translation: BAB84946.1
CCDSiCCDS42460.1 [Q8TEK3-2]
RefSeqiNP_115871.1, NM_032482.2 [Q8TEK3-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1NW3X-ray2.50A1-416[»]
2MV7NMR-B877-900[»]
3QOWX-ray2.10A1-416[»]
3QOXX-ray2.30A1-416[»]
3SR4X-ray2.50A1-351[»]
3SX0X-ray2.28A1-420[»]
3UWPX-ray2.05A1-420[»]
4EK9X-ray2.50A1-416[»]
4EKGX-ray2.80A1-416[»]
4EKIX-ray2.85A1-416[»]
4EQZX-ray2.15A1-420[»]
4ER0X-ray2.50A1-420[»]
4ER3X-ray2.40A1-351[»]
4ER5X-ray2.57A1-412[»]
4ER6X-ray2.30A1-412[»]
4ER7X-ray2.20A1-420[»]
4HRAX-ray3.15A1-416[»]
4WVLX-ray2.41A1-347[»]
5DRTX-ray2.69A/B2-333[»]
5DRYX-ray2.41A/B2-333[»]
5DSXX-ray2.41A/B2-332[»]
5DT2X-ray2.30A/B2-332[»]
5DTMX-ray2.20A/B2-332[»]
5DTQX-ray2.61A/B2-332[»]
5DTRX-ray2.34A/B2-332[»]
5JUWX-ray2.28A1-420[»]
5MVSX-ray2.18A/B2-332[»]
5MW3X-ray2.09A/B2-332[»]
5MW4X-ray2.19A/B2-332[»]
6J99electron microscopy4.10K1-416[»]
6JM9electron microscopy7.30X5-332[»]
6JMAelectron microscopy6.80X5-332[»]
6NJ9electron microscopy2.96K2-416[»]
6NN6electron microscopy3.90K3-416[»]
6NOGelectron microscopy3.90K2-416[»]
6NQAelectron microscopy3.54K2-416[»]
6O96electron microscopy3.50K2-332[»]
SMRiQ8TEK3
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi124082, 55 interactors
DIPiDIP-56410N
IntActiQ8TEK3, 29 interactors
MINTiQ8TEK3
STRINGi9606.ENSP00000381657

Chemistry databases

ChEMBLiCHEMBL1795117
GuidetoPHARMACOLOGYi2650

PTM databases

iPTMnetiQ8TEK3
PhosphoSitePlusiQ8TEK3

Polymorphism and mutation databases

BioMutaiDOT1L
DMDMi25090171

Proteomic databases

EPDiQ8TEK3
jPOSTiQ8TEK3
MassIVEiQ8TEK3
PaxDbiQ8TEK3
PeptideAtlasiQ8TEK3
PRIDEiQ8TEK3
ProteomicsDBi74468 [Q8TEK3-1]
74469 [Q8TEK3-2]

Genome annotation databases

EnsembliENST00000398665; ENSP00000381657; ENSG00000104885 [Q8TEK3-2]
GeneIDi84444
KEGGihsa:84444
UCSCiuc002lvb.4 human [Q8TEK3-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84444
DisGeNETi84444

GeneCards: human genes, protein and diseases

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GeneCardsi
DOT1L
HGNCiHGNC:24948 DOT1L
HPAiHPA011875
HPA071217
MIMi607375 gene
neXtProtiNX_Q8TEK3
OpenTargetsiENSG00000104885
PharmGKBiPA134993717

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3924 Eukaryota
ENOG410XSYC LUCA
GeneTreeiENSGT00390000013515
HOGENOMiHOG000143530
InParanoidiQ8TEK3
KOiK11427
OMAiSRAEHTK
OrthoDBi88676at2759
PhylomeDBiQ8TEK3
TreeFamiTF106393

Enzyme and pathway databases

ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
SIGNORiQ8TEK3

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
DOT1L human
EvolutionaryTraceiQ8TEK3

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
DOT1L

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
84444
PharosiQ8TEK3

Protein Ontology

More...
PROi
PR:Q8TEK3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104885 Expressed in 144 organ(s), highest expression level in testis
ExpressionAtlasiQ8TEK3 baseline and differential
GenevisibleiQ8TEK3 HS

Family and domain databases

InterProiView protein in InterPro
IPR025789 DOT1_dom
IPR021169 DOT1L/grappa
IPR030445 H3-K79_meTrfase
IPR029063 SAM-dependent_MTases
PANTHERiPTHR21451 PTHR21451, 1 hit
PfamiView protein in Pfam
PF08123 DOT1, 1 hit
PIRSFiPIRSF037123 Histone_H3-K79_MeTrfase_met, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51569 DOT1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDOT1L_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TEK3
Secondary accession number(s): O60379, Q96JL1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 15, 2002
Last sequence update: September 12, 2018
Last modified: October 16, 2019
This is version 176 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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