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UniProtKB - Q15047 (SETB1_HUMAN)

Entry version 219 (10 Feb 2021)
Sequence version 1 (01 Nov 1996)
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Protein

Histone-lysine N-methyltransferase SETDB1

Gene

SETDB1

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 that specifically trimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation (PubMed:12869583, PubMed:17952062). Required for HUSH-mediated heterochromatin formation and gene silencing. Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation (PubMed:27732843, PubMed:14536086). Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1 (PubMed:14536086,). SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factor recruited by KRAB zinc-finger proteins. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (PubMed:24623306). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). In ESCs, in collaboration with TRIM28, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610).By similarity6 Publications

Miscellaneous

Highly up-regulated in Huntington disease patients, suggesting that participates in the altered chromatin modulation and transcription dysfunction observed in Huntington disease. Its down-regulation has salubrious effects on patients, suggesting that it may be a promising treatment in Huntington disease patients.

Caution

Was reported to be recruited by MBD1, during DNA replication, to form a S phase-specific complex that would facilitate methylation of H3 'Lys-9' during replication-coupled chromatin assembly and vould be at least composed of the CAF-1 subunit CHAF1A, MBD1 and SETDB1 (PubMed:15327775, PubMed:17066076). However, these papers have been retracted because some data, results and conclusions are not reliable (PubMed:30849389, PubMed:31612521).4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.78 µM for S-adenosyl-L-methionine1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi729Zinc 1By similarity1
    Metal bindingi729Zinc 2By similarity1
    Metal bindingi731Zinc 1By similarity1
    Metal bindingi735Zinc 1By similarity1
    Metal bindingi735Zinc 3By similarity1
    Metal bindingi741Zinc 1By similarity1
    Metal bindingi743Zinc 2By similarity1
    Metal bindingi781Zinc 2By similarity1
    Metal bindingi781Zinc 3By similarity1
    Metal bindingi785Zinc 2By similarity1
    Metal bindingi787Zinc 3By similarity1
    Metal bindingi792Zinc 3By similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 sitei851S-adenosyl-L-methioninePROSITE-ProRule annotation1
    Binding sitei853S-adenosyl-L-methioninePROSITE-ProRule annotation1
    Binding sitei1220S-adenosyl-L-methioninePROSITE-ProRule annotation1
    Metal bindingi1226Zinc 4By similarity1
    Metal bindingi1279Zinc 4By similarity1
    Metal bindingi1281Zinc 4By similarity1
    Metal bindingi1286Zinc 4By similarity1

    <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

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <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, Methyltransferase, Repressor, Transferase
    Biological processTranscription, Transcription regulation
    LigandMetal-binding, S-adenosyl-L-methionine, Zinc

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...    BioCyci    		MetaCyc:HS07042-MONOMER

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		Q15047

    Reactome - a knowledgebase of biological pathways and processes

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

    SIGNOR Signaling Network Open Resource

    More...    SIGNORi    		Q15047

    <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%5Fand%5Ftaxonomy%5Fsection">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 SETDB1Curated (EC:2.1.1.3661 Publication)
    Alternative name(s):
    ERG-associated protein with SET domain
    Short name:
    ESET1 Publication
    Histone H3-K9 methyltransferase 4
    Short name:
    H3-K9-HMTase 4
    Lysine N-methyltransferase 1E
    SET domain bifurcated 1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SETDB1Imported
    Synonyms:ESET1 Publication, KIAA0067, KMT1E
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:10761, SETDB1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		604396, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_Q15047

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000143379.12

    <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

    Chromosome, Cytoplasm, 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%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi729 – 731CDC → LDP: Abolishes methyltransferase activity. 1 Publication3
    Mutagenesisi976T → A: Abrogates interaction with CHD7, NLK and PPARG. Reduces phosphorylation by NLK. Reduces transcriptional repression. 1 Publication1
    Mutagenesisi1224H → K: Abolishes methyltransferase activity. 1 Publication1
    Mutagenesisi1226C → A: Abolishes methyltransferase activity. 1 Publication1
    Mutagenesisi1279C → Y: Abolishes methyltransferase activity. 1 Publication1

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		9869

    Open Targets

    More...    OpenTargetsi    		ENSG00000143379

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA35679

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		Q15047, Tbio

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL2321646

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		SETDB1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		25091210

    <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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001860641 – 1291Histone-lysine N-methyltransferase SETDB1Add BLAST1291

    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 residuei112PhosphoserineBy similarity1
    Modified residuei117PhosphoserineBy similarity1
    Modified residuei120PhosphothreonineBy similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki182Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
    Cross-linki182Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate
    Modified residuei976Phosphothreonine; by NLK1 Publication1
    Modified residuei1025PhosphoserineCombined sources1
    Cross-linki1032Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
    Cross-linki1032Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
    Cross-linki1038Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
    Modified residuei1066PhosphoserineCombined sources1
    Cross-linki1069Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
    Cross-linki1149Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
    Modified residuei1170N6,N6,N6-trimethyllysine; alternateCombined sources1
    Modified residuei1170N6,N6-dimethyllysine; alternateCombined sources1
    Modified residuei1178N6,N6,N6-trimethyllysine; alternateCombined sources1
    Modified residuei1178N6,N6-dimethyllysine; alternateCombined sources1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Degraded by the proteasome, shielded by interaction with ATF7IP.1 Publication

    Keywords - PTMi

    Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		Q15047

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		Q15047

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		Q15047

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		Q15047

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

    More...    PaxDbi    		Q15047

    PeptideAtlas

    More...    PeptideAtlasi    		Q15047

    PRoteomics IDEntifications database

    More...    PRIDEi    		Q15047

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		60397 [Q15047-1]
    60398 [Q15047-2]
    60399 [Q15047-3]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		Q15047

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

    More...    PhosphoSitePlusi    		Q15047

    <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

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Widely expressed. High expression in testis.

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000143379, Expressed in testis and 228 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		Q15047, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		Q15047, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000143379, Low tissue specificity

    <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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Part of a complex containing at least CDYL, REST, WIZ, SETDB1, EHMT1 and EHMT2 (PubMed:19061646). Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1 (PubMed:24623306).

    Interacts with TRIM28/TIF1B (PubMed:11959841).

    Interacts with ATF7IP and ATF7IP2; the interaction with ATF7IP protects SETDB1 from proteasomal degradation and is required to stimulate histone methyltransferase activity and facilitate the conversion of dimethylated to trimethylated H3 'Lys-9' (PubMed:14536086, PubMed:15691849).

    Interacts with CBX1 and CBX5 (PubMed:15899859).

    Interacts with DNMT3A and DNMT3B (PubMed:16682412).

    Interacts with SUMO2.

    Interacts with CHD7, NLK1 and PPARG (PubMed:17952062).

    Interacts with MPHOSPH8 (PubMed:20871592).

    Interacts with ERG (By similarity).

    Interacts with HDAC1, HDAC2, SIN3A and SIN3B (By similarity).

    Interacts with ATRX.

    Forms a complex with ATRX, TRIM28 and ZNF274 (PubMed:27029610).

    Interacts with RESF1 (By similarity).

    Interacts with ZNF638 (PubMed:30487602).

    Interacts with TASOR (By similarity).

    By similarity14 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Q15047
    With#Exp.IntAct
    AKT1 [P31749]9EBI-79691,EBI-296087
    CDC73 [Q6P1J9]3EBI-79691,EBI-930143
    DNMT3A [Q9Y6K1]7EBI-79691,EBI-923653
    MBD1 [Q9UIS9]3EBI-79691,EBI-867196
    MPHOSPH8 [Q99549]3EBI-79691,EBI-2653928
    Isoform 2 [Q15047-2]
    With#Exp.IntAct
    ACAP1 [Q15027]3EBI-9090795,EBI-751746
    ACOT13 [Q9NPJ3]3EBI-9090795,EBI-1045357
    ANKHD1 - isoform 3 [Q8IWZ3-3]3EBI-9090795,EBI-25833200
    ARHGEF9 [O43307]3EBI-9090795,EBI-3447299
    ARL6IP4 - isoform 4 [Q66PJ3-4]3EBI-9090795,EBI-5280499
    ASB1 [Q9Y576]3EBI-9090795,EBI-2323092
    BAAT [Q14032]3EBI-9090795,EBI-8994378
    BAGE [Q13072]3EBI-9090795,EBI-25884811
    BANP - isoform 2 [Q8N9N5-2]3EBI-9090795,EBI-11524452
    C16orf87 [Q6PH81]3EBI-9090795,EBI-6598617
    CCDC34 - isoform 2 [Q96HJ3-2]3EBI-9090795,EBI-17641690
    CCDC47 [Q96A33]3EBI-9090795,EBI-720151
    CCDC74B - isoform 2 [Q96LY2-2]3EBI-9090795,EBI-17967022
    CCDC90B [Q9GZT6]3EBI-9090795,EBI-713148
    CENPV [Q7Z7K6]3EBI-9090795,EBI-1210604
    CEP76 [Q8TAP6]3EBI-9090795,EBI-742887
    CHCHD3 [Q9NX63]3EBI-9090795,EBI-743375
    CIB1 [Q99828]3EBI-9090795,EBI-372594
    CPN1 [P15169]3EBI-9090795,EBI-2116369
    CTSO [P43234]3EBI-9090795,EBI-2874283
    DEXI [O95424]3EBI-9090795,EBI-724515
    DNPH1 [O43598]3EBI-9090795,EBI-748674
    DRD1 [P21728]3EBI-9090795,EBI-6624459
    EIF3E [P60228]3EBI-9090795,EBI-347740
    EPSTI1 - isoform 3 [Q96J88-3]3EBI-9090795,EBI-25885343
    FOXP4 - isoform 2 [Q8IVH2-2]3EBI-9090795,EBI-25885364
    FRMD6 - isoform 2 [Q96NE9-2]3EBI-9090795,EBI-13213391
    FSCN2 [O14926]3EBI-9090795,EBI-21017948
    GABPB1 - isoform 2 [Q06547-2]3EBI-9090795,EBI-618189
    GABPB1 - isoform 3 [Q06547-3]3EBI-9090795,EBI-9088619
    GGT1 - isoform 3 [P19440-3]3EBI-9090795,EBI-21558069
    GNA14 [O95837]3EBI-9090795,EBI-7951023
    GNB5 [Q96F32]3EBI-9090795,EBI-25902214
    GPAA1 - isoform 2 [O43292-2]3EBI-9090795,EBI-25884370
    GPATCH2L - isoform 2 [Q9NWQ4-1]3EBI-9090795,EBI-11959863
    GPR160 [Q9UJ42]3EBI-9090795,EBI-25885139
    GPRASP2 [Q96D09]3EBI-9090795,EBI-473189
    GRB10 - isoform 4 [Q13322-4]3EBI-9090795,EBI-12353035
    H4C9 [P62805]3EBI-9090795,EBI-302023
    HAX1 [O00165]3EBI-9090795,EBI-357001
    hCG_1820408 [Q8N7T0]3EBI-9090795,EBI-25858908
    HNRNPF [P52597]3EBI-9090795,EBI-352986
    HOXB13 [Q92826]3EBI-9090795,EBI-11317274
    HOXC4 [P09017]3EBI-9090795,EBI-3923226
    HSF2 - isoform 2 [Q03933-2]3EBI-9090795,EBI-10223348
    HTT [P42858]15EBI-9090795,EBI-466029
    ID2 [Q02363]3EBI-9090795,EBI-713450
    IFT43 - isoform 2 [Q96FT9-2]3EBI-9090795,EBI-11944538
    IGBP1 [P78318]3EBI-9090795,EBI-1055954
    IGFBP3 [P17936]3EBI-9090795,EBI-715709
    IL3RA [P26951]3EBI-9090795,EBI-1757512
    KCTD17 [Q8N5Z5]3EBI-9090795,EBI-743960
    KLF12 [Q9Y4X4]3EBI-9090795,EBI-750750
    KRBOX4 - isoform 3 [Q5JUW0-3]3EBI-9090795,EBI-12893625
    KRTAP3-1 [Q9BYR8]3EBI-9090795,EBI-9996449
    LHX5 [Q9H2C1]3EBI-9090795,EBI-25835523
    LIPT1 [Q9Y234]3EBI-9090795,EBI-727376
    LUM [P51884]3EBI-9090795,EBI-725780
    MACIR [Q96GV9]3EBI-9090795,EBI-2350695
    MAGEH1 [Q9H213]3EBI-9090795,EBI-473834
    MAP3K9 [P80192]3EBI-9090795,EBI-3951604
    MAPK11 [Q15759]3EBI-9090795,EBI-298304
    MED19 - isoform 2 [A0JLT2-2]3EBI-9090795,EBI-13288755
    METTL7A [Q9H8H3]3EBI-9090795,EBI-1390168
    MNDA [P41218]3EBI-9090795,EBI-2829677
    MRPL43 - isoform 3 [Q8N983-3]3EBI-9090795,EBI-11109389
    NDUFA5 [Q16718]3EBI-9090795,EBI-746417
    NDUFV1 [P49821]3EBI-9090795,EBI-748312
    OXA1L [Q2M1J6]3EBI-9090795,EBI-9978021
    PDCD2 [Q16342]3EBI-9090795,EBI-359462
    PELO [Q9BRX2]3EBI-9090795,EBI-1043580
    PIAS3 [Q9Y6X2]3EBI-9090795,EBI-2803703
    PIP4P1 [Q86T03]3EBI-9090795,EBI-6164623
    PLB1 - isoform 2 [Q6P1J6-2]3EBI-9090795,EBI-10694821
    POLI [Q9UNA4]3EBI-9090795,EBI-741774
    PROS1 [P07225]3EBI-9090795,EBI-2803380
    RABL6 - isoform 3 [Q3YEC7-3]3EBI-9090795,EBI-25885259
    RCC1L [Q96I51]3EBI-9090795,EBI-2117080
    RHOBTB1 [O94844]3EBI-9090795,EBI-6426999
    RIMS3 [Q9UJD0]3EBI-9090795,EBI-3909436
    RMND1 - isoform 3 [Q9NWS8-3]3EBI-9090795,EBI-25884400
    RNF114 [Q9Y508]3EBI-9090795,EBI-723587
    RNF150 - isoform 3 [Q9ULK6-3]3EBI-9090795,EBI-23640835
    RPL11 - isoform 2 [P62913-2]3EBI-9090795,EBI-11027771
    RPL35A [P18077]3EBI-9090795,EBI-353383
    SDHC [Q99643]3EBI-9090795,EBI-1224539
    SEPTIN6 [Q14141]3EBI-9090795,EBI-745901
    SET - isoform 2 [Q01105-2]3EBI-9090795,EBI-7481343
    SNW1 [Q13573]3EBI-9090795,EBI-632715
    SNX10 [Q9Y5X0]3EBI-9090795,EBI-10329478
    SNX33 [Q8WV41]3EBI-9090795,EBI-2481535
    SOX10 [P56693]3EBI-9090795,EBI-1167533
    SP2 [Q9BRW5]3EBI-9090795,EBI-25868254
    STIM1 [Q13586]3EBI-9090795,EBI-448878
    STRN3 - isoform Alpha [Q13033-2]3EBI-9090795,EBI-1053876
    SYNGR3 [O43761]3EBI-9090795,EBI-11321949
    TCF4 [P15884]3EBI-9090795,EBI-533224
    TFAP2B [Q92481]3EBI-9090795,EBI-725275
    TMEM176B [Q3YBM2]3EBI-9090795,EBI-2821479
    TMEM54 [Q969K7]3EBI-9090795,EBI-3922833
    TPMT [P51580]3EBI-9090795,EBI-25902017
    TRMT6 [Q9UJA5]3EBI-9090795,EBI-934061
    TSNAX [Q99598]3EBI-9090795,EBI-742638
    USP38 [Q8NB14]3EBI-9090795,EBI-2512509
    VAMP3 [Q15836]3EBI-9090795,EBI-722343
    VNN2 [O95498]3EBI-9090795,EBI-21494555
    WWOX - isoform 5 [Q9NZC7-5]3EBI-9090795,EBI-12040603
    ZC2HC1C - isoform 2 [Q53FD0-2]3EBI-9090795,EBI-14104088
    ZDHHC17 [Q8IUH5]3EBI-9090795,EBI-524753
    ZFYVE21 [Q9BQ24]3EBI-9090795,EBI-2849569
    ZKSCAN8 [Q15776]3EBI-9090795,EBI-2602314
    ZMYM3 [Q14202]3EBI-9090795,EBI-2556139
    ZNF248 [Q05CR2]3EBI-9090795,EBI-25835471
    ZNF346 [Q9UL40]3EBI-9090795,EBI-2462313
    ZNF444 - isoform 2 [Q8N0Y2-2]3EBI-9090795,EBI-12010736
    ZSCAN9 [O15535]3EBI-9090795,EBI-751531
    Q9HBH63EBI-9090795,EBI-25901704
    Isoform 3 [Q15047-3]
    With#Exp.IntAct
    HSF2BP [O75031]3EBI-11149962,EBI-7116203
    TRIP6 [Q15654]3EBI-11149962,EBI-742327

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		115202, 146 interactors

    CORUM comprehensive resource of mammalian protein complexes

    More...    CORUMi    		Q15047

    Database of interacting proteins

    More...    DIPi    		DIP-31029N

    Protein interaction database and analysis system

    More...    IntActi    		Q15047, 258 interactors

    Molecular INTeraction database

    More...    MINTi    		Q15047

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000271640

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		Q15047

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		Q15047, protein

    <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

    11291
    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    		Q15047

    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    		Q15047

    <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%5Fand%5Fdomains%5Fsection">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>Domaini257 – 320Tudor 1Add BLAST64
    Domaini347 – 403Tudor 2Add BLAST57
    Domaini594 – 665MBDPROSITE-ProRule annotationAdd BLAST72
    Domaini727 – 800Pre-SETPROSITE-ProRule annotationAdd BLAST74
    Domaini803 – 1266SETPROSITE-ProRule annotationAdd BLAST464
    Domaini1275 – 1291Post-SETPROSITE-ProRule annotationAdd BLAST17

    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>Regioni813 – 815S-adenosyl-L-methionine bindingBy similarity3
    Regioni1223 – 1224S-adenosyl-L-methionine bindingBy similarity2

    Coiled coil

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili18 – 64Sequence analysisAdd BLAST47

    <p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    The pre-SET, SET and post-SET domains are all required for methyltransferase activity. The 347-amino-acid insertion in the SET domain has no effect on the catalytic activity.
    Isoform 2 lacks all domains required for histone methyltransferase activity.
    In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster.By similarity

    <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 V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG1141, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000157471

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_003279_1_0_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		Q15047

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		ERPMVKL

    Database of Orthologous Groups

    More...    OrthoDBi    		183716at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		Q15047

    TreeFam database of animal gene trees

    More...    TreeFami    		TF106411

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR016177, DNA-bd_dom_sf
    IPR040880, DUF5604
    IPR025796, Hist-Lys_N-MeTrfase_SETDB1
    IPR001739, Methyl_CpG_DNA-bd
    IPR003616, Post-SET_dom
    IPR007728, Pre-SET_dom
    IPR001214, SET_dom
    IPR002999, Tudor
    IPR041292, Tudor_4
    IPR041291, TUDOR_5

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF18300, DUF5604, 1 hit
    PF01429, MBD, 1 hit
    PF05033, Pre-SET, 1 hit
    PF00856, SET, 1 hit
    PF18358, Tudor_4, 1 hit
    PF18359, TUDOR_5, 1 hit

    Simple Modular Architecture Research Tool; a protein domain database

    More...    SMARTi    		View protein in SMART
    SM00391, MBD, 1 hit
    SM00468, PreSET, 1 hit
    SM00317, SET, 1 hit
    SM00333, TUDOR, 2 hits

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF54171, SSF54171, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS50982, MBD, 1 hit
    PS50868, POST_SET, 1 hit
    PS50867, PRE_SET, 1 hit
    PS51573, SAM_MT43_SUVAR39_1, 1 hit
    PS50280, SET, 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%5Flength">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 (3+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q15047-1) [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
    MSSLPGCIGL DAATATVESE EIAELQQAVV EELGISMEEL RHFIDEELEK 
            60         70         80         90        100
    MDCVQQRKKQ LAELETWVIQ KESEVAHVDQ LFDDASRAVT NCESLVKDFY 
           110        120        130        140        150
    SKLGLQYRDS SSEDESSRPT EIIEIPDEDD DVLSIDSGDA GSRTPKDQKL 
           160        170        180        190        200
    REAMAALRKS AQDVQKFMDA VNKKSSSQDL HKGTLSQMSG ELSKDGDLIV 
           210        220        230        240        250
    SMRILGKKRT KTWHKGTLIA IQTVGPGKKY KVKFDNKGKS LLSGNHIAYD 
           260        270        280        290        300
    YHPPADKLYV GSRVVAKYKD GNQVWLYAGI VAETPNVKNK LRFLIFFDDG 
           310        320        330        340        350
    YASYVTQSEL YPICRPLKKT WEDIEDISCR DFIEEYVTAY PNRPMVLLKS 
           360        370        380        390        400
    GQLIKTEWEG TWWKSRVEEV DGSLVRILFL DDKRCEWIYR GSTRLEPMFS 
           410        420        430        440        450
    MKTSSASALE KKQGQLRTRP NMGAVRSKGP VVQYTQDLTG TGTQFKPVEP 
           460        470        480        490        500
    PQPTAPPAPP FPPAPPLSPQ AGDSDLESQL AQSRKQVAKK STSFRPGSVG 
           510        520        530        540        550
    SGHSSPTSPA LSENVSGGKP GINQTYRSPL GSTASAPAPS ALPAPPAPPV 
           560        570        580        590        600
    FHGMLERAPA EPSYRAPMEK LFYLPHVCSY TCLSRVRPMR NEQYRGKNPL 
           610        620        630        640        650
    LVPLLYDFRR MTARRRVNRK MGFHVIYKTP CGLCLRTMQE IERYLFETGC 
           660        670        680        690        700
    DFLFLEMFCL DPYVLVDRKF QPYKPFYYIL DITYGKEDVP LSCVNEIDTT 
           710        720        730        740        750
    PPPQVAYSKE RIPGKGVFIN TGPEFLVGCD CKDGCRDKSK CACHQLTIQA 
           760        770        780        790        800
    TACTPGGQIN PNSGYQYKRL EECLPTGVYE CNKRCKCDPN MCTNRLVQHG 
           810        820        830        840        850
    LQVRLQLFKT QNKGWGIRCL DDIAKGSFVC IYAGKILTDD FADKEGLEMG 
           860        870        880        890        900
    DEYFANLDHI ESVENFKEGY ESDAPCSSDS SGVDLKDQED GNSGTEDPEE 
           910        920        930        940        950
    SNDDSSDDNF CKDEDFSTSS VWRSYATRRQ TRGQKENGLS ETTSKDSHPP 
           960        970        980        990       1000
    DLGPPHIPVP PSIPVGGCNP PSSEETPKNK VASWLSCNSV SEGGFADSDS 
          1010       1020       1030       1040       1050
    HSSFKTNEGG EGRAGGSRME AEKASTSGLG IKDEGDIKQA KKEDTDDRNK 
          1060       1070       1080       1090       1100
    MSVVTESSRN YGYNPSPVKP EGLRRPPSKT SMHQSRRLMA SAQSNPDDVL 
          1110       1120       1130       1140       1150
    TLSSSTESEG ESGTSRKPTA GQTSATAVDS DDIQTISSGS EGDDFEDKKN 
          1160       1170       1180       1190       1200
    MTGPMKRQVA VKSTRGFALK STHGIAIKST NMASVDKGES APVRKNTRQF 
          1210       1220       1230       1240       1250
    YDGEESCYII DAKLEGNLGR YLNHSCSPNL FVQNVFVDTH DLRFPWVAFF 
          1260       1270       1280       1290 
    ASKRIRAGTE LTWDYNYEVG SVEGKELLCC CGAIECRGRL L
    Length:1,291
    Mass (Da):143,157
    Last modified:November 1, 1996 - v1
    <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:iD8841B4C41B911C5
    GO
    Isoform 2 (identifier: Q15047-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         381-397: DDKRCEWIYRGSTRLEP → VLFFSTILEAEVGGGGT
         398-1291: Missing.

    Show »
    Length:397
    Mass (Da):44,689
    Checksum:iA880C9152E11A900
    GO
    Isoform 3 (identifier: Q15047-3) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1254-1254: Missing.

    Show »
    Length:1,290
    Mass (Da):143,001
    Checksum:iBBF5516339BE6C17
    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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    E9PRF4E9PRF4_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		1,259Annotation 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>
    E9PQM8E9PQM8_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		636Annotation 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>
    X6R732X6R732_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		249Annotation 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>
    B0QZE6B0QZE6_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		156Annotation 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>
    E9PS59E9PS59_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		163Annotation 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>
    X6RHV1X6RHV1_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		150Annotation 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>
    E9PAP1E9PAP1_HUMAN
    Histone-lysine N-methyltransferase ...
    SETDB1
    		111Annotation 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 BAA06689 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

    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_014284236N → S. Corresponds to variant dbSNP:rs2271075Ensembl.1
    Natural variantiVAR_031281506P → S1 PublicationCorresponds to variant dbSNP:rs17852587Ensembl.1
    Natural variantiVAR_014286824A → G. Corresponds to variant dbSNP:rs2691551Ensembl.1
    Natural variantiVAR_014285824A → P. Corresponds to variant dbSNP:rs2814054Ensembl.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_002217381 – 397DDKRC…TRLEP → VLFFSTILEAEVGGGGT in isoform 2. 1 PublicationAdd BLAST17
    Alternative sequenceiVSP_002218398 – 1291Missing in isoform 2. 1 PublicationAdd BLAST894
    Alternative sequenceiVSP_0346001254Missing in isoform 3. 1 Publication1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		D31891 mRNA Translation: BAA06689.2 Different initiation.
    AL590133 Genomic DNA No translation available.
    CH471121 Genomic DNA Translation: EAW53506.1
    BC009362 mRNA Translation: AAH09362.1
    BC028671 mRNA Translation: AAH28671.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS44217.1 [Q15047-1]
    CCDS58026.1 [Q15047-2]
    CCDS972.1 [Q15047-3]

    NCBI Reference Sequences

    More...    RefSeqi    		NP_001138887.1, NM_001145415.1 [Q15047-1]
    NP_001230420.1, NM_001243491.1 [Q15047-2]
    NP_036564.3, NM_012432.3 [Q15047-3]
    XP_016858444.1, XM_017002955.1 [Q15047-2]

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000271640; ENSP00000271640; ENSG00000143379 [Q15047-1]
    ENST00000368962; ENSP00000357958; ENSG00000143379 [Q15047-2]
    ENST00000368969; ENSP00000357965; ENSG00000143379 [Q15047-3]

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		9869

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:9869

    UCSC genome browser

    More...    UCSCi    		uc001evu.3, human [Q15047-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <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
    		D31891 mRNA Translation: BAA06689.2 Different initiation.
    AL590133 Genomic DNA No translation available.
    CH471121 Genomic DNA Translation: EAW53506.1
    BC009362 mRNA Translation: AAH09362.1
    BC028671 mRNA Translation: AAH28671.1
    CCDSiCCDS44217.1 [Q15047-1]
    CCDS58026.1 [Q15047-2]
    CCDS972.1 [Q15047-3]
    RefSeqiNP_001138887.1, NM_001145415.1 [Q15047-1]
    NP_001230420.1, NM_001243491.1 [Q15047-2]
    NP_036564.3, NM_012432.3 [Q15047-3]
    XP_016858444.1, XM_017002955.1 [Q15047-2]

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    3DLMX-ray1.77A196-402[»]
    4X3SX-ray1.60C/D1165-1174[»]
    5KCHX-ray1.70A196-403[»]
    5KCOX-ray1.47A196-403[»]
    5KE2X-ray1.56A196-402[»]
    5KE3X-ray1.70A196-402[»]
    5KH6X-ray2.05A196-400[»]
    5QT1X-ray1.58A196-397[»]
    5QT2X-ray1.59A196-397[»]
    6AU2X-ray1.63A196-402[»]
    6AU3X-ray1.80A196-402[»]
    6BHDX-ray1.25A190-410[»]
    6BHEX-ray1.35A190-410[»]
    6BHGX-ray1.45A190-410[»]
    6BHHX-ray1.85A190-410[»]
    6BHIX-ray1.40A190-410[»]
    6BPIX-ray1.64A196-402[»]
    SMRiQ15047
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi115202, 146 interactors
    CORUMiQ15047
    DIPiDIP-31029N
    IntActiQ15047, 258 interactors
    MINTiQ15047
    STRINGi9606.ENSP00000271640

    Chemistry databases

    BindingDBiQ15047
    ChEMBLiCHEMBL2321646

    PTM databases

    iPTMnetiQ15047
    PhosphoSitePlusiQ15047

    Genetic variation databases

    BioMutaiSETDB1
    DMDMi25091210

    Proteomic databases

    EPDiQ15047
    jPOSTiQ15047
    MassIVEiQ15047
    MaxQBiQ15047
    PaxDbiQ15047
    PeptideAtlasiQ15047
    PRIDEiQ15047
    ProteomicsDBi60397 [Q15047-1]
    60398 [Q15047-2]
    60399 [Q15047-3]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		20300, 385 antibodies

    Genome annotation databases

    EnsembliENST00000271640; ENSP00000271640; ENSG00000143379 [Q15047-1]
    ENST00000368962; ENSP00000357958; ENSG00000143379 [Q15047-2]
    ENST00000368969; ENSP00000357965; ENSG00000143379 [Q15047-3]
    GeneIDi9869
    KEGGihsa:9869
    UCSCiuc001evu.3, human [Q15047-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		9869
    DisGeNETi9869

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SETDB1
    HGNCiHGNC:10761, SETDB1
    HPAiENSG00000143379, Low tissue specificity
    MIMi604396, gene
    neXtProtiNX_Q15047
    OpenTargetsiENSG00000143379
    PharmGKBiPA35679
    VEuPathDBiHostDB:ENSG00000143379.12

    Human Unidentified Gene-Encoded large proteins database

    More...    HUGEi    		Search...

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG1141, Eukaryota
    GeneTreeiENSGT00940000157471
    HOGENOMiCLU_003279_1_0_1
    InParanoidiQ15047
    OMAiERPMVKL
    OrthoDBi183716at2759
    PhylomeDBiQ15047
    TreeFamiTF106411

    Enzyme and pathway databases

    BioCyciMetaCyc:HS07042-MONOMER
    PathwayCommonsiQ15047
    ReactomeiR-HSA-3214841, PKMTs methylate histone lysines
    SIGNORiQ15047

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		9869, 247 hits in 907 CRISPR screens

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

    More...    ChiTaRSi    		SETDB1, human
    EvolutionaryTraceiQ15047

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		SETDB1

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

    More...    GenomeRNAii    		9869
    PharosiQ15047, Tbio

    Protein Ontology

    More...    PROi    		PR:Q15047
    RNActiQ15047, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000143379, Expressed in testis and 228 other tissues
    ExpressionAtlasiQ15047, baseline and differential
    GenevisibleiQ15047, HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR016177, DNA-bd_dom_sf
    IPR040880, DUF5604
    IPR025796, Hist-Lys_N-MeTrfase_SETDB1
    IPR001739, Methyl_CpG_DNA-bd
    IPR003616, Post-SET_dom
    IPR007728, Pre-SET_dom
    IPR001214, SET_dom
    IPR002999, Tudor
    IPR041292, Tudor_4
    IPR041291, TUDOR_5
    PfamiView protein in Pfam
    PF18300, DUF5604, 1 hit
    PF01429, MBD, 1 hit
    PF05033, Pre-SET, 1 hit
    PF00856, SET, 1 hit
    PF18358, Tudor_4, 1 hit
    PF18359, TUDOR_5, 1 hit
    SMARTiView protein in SMART
    SM00391, MBD, 1 hit
    SM00468, PreSET, 1 hit
    SM00317, SET, 1 hit
    SM00333, TUDOR, 2 hits
    SUPFAMiSSF54171, SSF54171, 1 hit
    PROSITEiView protein in PROSITE
    PS50982, MBD, 1 hit
    PS50868, POST_SET, 1 hit
    PS50867, PRE_SET, 1 hit
    PS51573, SAM_MT43_SUVAR39_1, 1 hit
    PS50280, SET, 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 nameiSETB1_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: Q15047
    Secondary accession number(s): A6NEW2
    , Q5SZD8, Q5SZD9, Q5SZE0, Q5SZE7, Q96GM9
    <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%5Fand%5Fisoforms">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: November 1, 1996
    Last modified: February 10, 2021
    This is version 219 of the entry and version 1 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, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families
    UniProt is an ELIXIR core data resource
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