Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 224 (25 May 2022)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
Add a publicationFeedback
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).

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 similarity5 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 would 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
Was reported to trimethylate H3 'Lys-9', to interact with CHD7, NLK1 and PPARG and to be phosphorylated at Thr-796 (PubMed:17952062). However, this work was later retracted although its role in H3 'Lys-9' trimethylation is supported by other papers (PubMed:25358353).Curated2 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

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.1.1.355, 2681
2.1.1.366, 2681

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q15047

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

<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

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
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 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

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q15047, 1 site, 1 O-linked glycan (1 site)

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 229 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).

Forms a complex with ATRX, TRIM28 and ZNF274 (PubMed:27029610). 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 MPHOSPH8 (PubMed:20871592).

Interacts with ERG (By similarity).

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

Interacts with ATRX.

Interacts with RESF1 (By similarity).

Interacts with ZNF638 (PubMed:30487602).

Interacts with TASOR (By similarity).

Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (PubMed:32051553).

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, 162 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, 260 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

AlphaFold Protein Structure Database

More...
AlphaFoldDBi
Q15047

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>Regioni108 – 147DisorderedSequence analysisAdd BLAST40
Regioni404 – 545DisorderedSequence analysisAdd BLAST142
Regioni813 – 815S-adenosyl-L-methionine bindingBy similarity3
Regioni868 – 1160DisorderedSequence analysisAdd BLAST293
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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi108 – 123Basic and acidic residuesSequence analysisAdd BLAST16
Compositional biasi432 – 448Polar residuesSequence analysisAdd BLAST17
Compositional biasi449 – 469Pro residuesSequence analysisAdd BLAST21
Compositional biasi472 – 535Polar residuesSequence analysisAdd BLAST64
Compositional biasi893 – 910Acidic residuesSequence analysisAdd BLAST18
Compositional biasi915 – 947Polar residuesSequence analysisAdd BLAST33
Compositional biasi951 – 967Pro residuesSequence analysisAdd BLAST17
Compositional biasi972 – 1007Polar residuesSequence analysisAdd BLAST36
Compositional biasi1034 – 1053Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1078 – 1140Polar residuesSequence analysisAdd BLAST63

<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

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
IRAVTNC

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

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.170.270.10, 2 hits

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
IPR046341, SET_dom_sf
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
SSF82199, SSF82199, 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.<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 8 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 <p><strong>What is the canonical sequence?</strong><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 8 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>
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>
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>
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>
A0A8I5KT93A0A8I5KT93_HUMAN
Histone-lysine N-methyltransferase ...
SETDB1 hCG_39375
1,292Annotation 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
ENST00000271640.9; ENSP00000271640.5; ENSG00000143379.13
ENST00000368962.6; ENSP00000357958.2; ENSG00000143379.13 [Q15047-2]
ENST00000368969.8; ENSP00000357965.4; ENSG00000143379.13 [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[»]
7C9NX-ray2.47A/B190-410[»]
7CAJX-ray2.20A/D190-410[»]
7CD9X-ray1.60A/B190-410[»]
7CJTX-ray2.47A/B/C/D190-410[»]
AlphaFoldDBiQ15047
SMRiQ15047
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115202, 162 interactors
CORUMiQ15047
DIPiDIP-31029N
IntActiQ15047, 260 interactors
MINTiQ15047
STRINGi9606.ENSP00000271640

Chemistry databases

BindingDBiQ15047
ChEMBLiCHEMBL2321646

PTM databases

GlyGeniQ15047, 1 site, 1 O-linked glycan (1 site)
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, 400 antibodies from 41 providers

The DNASU plasmid repository

More...
DNASUi
9869

Genome annotation databases

EnsembliENST00000271640.9; ENSP00000271640.5; ENSG00000143379.13
ENST00000368962.6; ENSP00000357958.2; ENSG00000143379.13 [Q15047-2]
ENST00000368969.8; ENSP00000357965.4; ENSG00000143379.13 [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

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
OMAiIRAVTNC
OrthoDBi183716at2759
PhylomeDBiQ15047
TreeFamiTF106411

Enzyme and pathway databases

BRENDAi2.1.1.355, 2681
2.1.1.366, 2681
PathwayCommonsiQ15047
ReactomeiR-HSA-3214841, PKMTs methylate histone lysines
SignaLinkiQ15047
SIGNORiQ15047

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
9869, 273 hits in 1124 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 229 other tissues
ExpressionAtlasiQ15047, baseline and differential
GenevisibleiQ15047, HS

Family and domain databases

Gene3Di2.170.270.10, 2 hits
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
IPR046341, SET_dom_sf
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
SSF82199, SSF82199, 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

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: May 25, 2022
This is version 224 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
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again