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Entry version 208 (18 Sep 2019)
Sequence version 1 (01 Oct 1993)
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Protein

DNA excision repair protein ERCC-6

Gene

ERCC6

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

Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the at sites of RNA polymerase II-blocking lesions.4 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi532 – 539ATPPROSITE-ProRule annotation8

<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 functionDNA-binding, Helicase, Hydrolase
Biological processDNA damage, DNA repair, Transcription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73762 RNA Polymerase I Transcription Initiation

SIGNOR Signaling Network Open Resource

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SIGNORi
Q03468

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA excision repair protein ERCC-6 (EC:3.6.4.-)
Alternative name(s):
ATP-dependent helicase ERCC6
Cockayne syndrome protein CSB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ERCC6
Synonyms:CSB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3438 ERCC6

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609413 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q03468

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

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

Keywords - Cellular componenti

Nucleus

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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cockayne syndrome B (CSB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.
Related information in OMIM
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_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 PublicationCorresponds to variant dbSNP:rs1554788393EnsemblClinVar.1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
De Sanctis-Cacchione syndrome (DSC)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome consisting of xeroderma pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly and various neurologic complications of early onset.
Related information in OMIM
Macular degeneration, age-related, 5 (ARMD5)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Related information in OMIM
UV-sensitive syndrome 1 (UVSS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1427 – 1428LL → GG: Fails to bind polyubiquitin chains. 1 Publication2

Keywords - Diseasei

Age-related macular degeneration, Cataract, Cockayne syndrome, Deafness, Disease mutation, Dwarfism, Mental retardation, Xeroderma pigmentosum

Organism-specific databases

DisGeNET

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DisGeNETi
2074

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ERCC6

MalaCards human disease database

More...
MalaCardsi
ERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
613761 phenotype

Open Targets

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OpenTargetsi
ENSG00000225830

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA27852

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ERCC6

Domain mapping of disease mutations (DMDM)

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DMDMi
416959

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000743141 – 1493DNA excision repair protein ERCC-6Add BLAST1493

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 residuei158PhosphoserineCombined sources1
Modified residuei170N6-methylated lysine; by EHMT21 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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-linki255Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei297N6-methylated lysine; by EHMT21 Publication1
Modified residuei429PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei448N6-methylated lysine; by EHMT21 Publication1
Modified residuei486PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei1054N6-methylated lysine; by EHMT21 Publication1
Modified residuei1142PhosphoserineCombined sources1
Modified residuei1348PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of ERCC6 by the proteasome.5 Publications

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q03468

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q03468

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q03468

MaxQB - The MaxQuant DataBase

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MaxQBi
Q03468

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

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PaxDbi
Q03468

PeptideAtlas

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PeptideAtlasi
Q03468

PRoteomics IDEntifications database

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PRIDEi
Q03468

ProteomicsDB human proteome resource

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ProteomicsDBi
18566
58213

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q03468

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

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PhosphoSitePlusi
Q03468

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q03468 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q03468 HS

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

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

Homodimer. Binds DNA.

Interacts with ERCC8.

Interacts with a subunit of RNA polymerase II TFIIH.

Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21.

Interacts with KIAA1530/UVSSA.

5 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108386, 60 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1099 B-WICH chromatin remodelling complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q03468

Database of interacting proteins

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DIPi
DIP-193N

Protein interaction database and analysis system

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IntActi
Q03468, 24 interactors

Molecular INTeraction database

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MINTi
Q03468

STRING: functional protein association networks

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STRINGi
9606.ENSP00000348089

<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

11493
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

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SMRi
Q03468

Database of comparative protein structure models

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ModBasei
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini519 – 695Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST177
Domaini843 – 1002Helicase C-terminalPROSITE-ProRule annotationAdd BLAST160

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>Regioni1400 – 1428Ubiquitin-binding domain (UBD)Add BLAST29

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi466 – 481Nuclear localization signalSequence analysisAdd BLAST16
Motifi646 – 649DEGH box4
Motifi1038 – 1055Nuclear localization signalSequence analysisAdd BLAST18

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi356 – 394Asp/Glu-rich (acidic)Add BLAST39
Compositional biasi442 – 446Gly-rich5

<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

A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision repair to proceed.1 Publication

<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 SNF2/RAD54 helicase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158057

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000170952

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q03468

KEGG Orthology (KO)

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KOi
K10841

Identification of Orthologs from Complete Genome Data

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OMAi
QVDSAIH

Database of Orthologous Groups

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OrthoDBi
1227195at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q03468

TreeFam database of animal gene trees

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TreeFami
TF101236
TF328011

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.50.10810, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

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

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

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

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

Isoform CSB1 Publication (identifier: Q03468-1) [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
MPNEGIPHSS QTQEQDCLQS QPVSNNEEMA IKQESGGDGE VEEYLSFRSV
60 70 80 90 100
GDGLSTSAVG CASAAPRRGP ALLHIDRHQI QAVEPSAQAL ELQGLGVDVY
110 120 130 140 150
DQDVLEQGVL QQVDNAIHEA SRASQLVDVE KEYRSVLDDL TSCTTSLRQI
160 170 180 190 200
NKIIEQLSPQ AATSRDINRK LDSVKRQKYN KEQQLKKITA KQKHLQAILG
210 220 230 240 250
GAEVKIELDH ASLEEDAEPG PSSLGSMLMP VQETAWEELI RTGQMTPFGT
260 270 280 290 300
QIPQKQEKKP RKIMLNEASG FEKYLADQAK LSFERKKQGC NKRAARKAPA
310 320 330 340 350
PVTPPAPVQN KNKPNKKARV LSKKEERLKK HIKKLQKRAL QFQGKVGLPK
360 370 380 390 400
ARRPWESDMR PEAEGDSEGE ESEYFPTEEE EEEEDDEVEG AEADLSGDGT
410 420 430 440 450
DYELKPLPKG GKRQKKVPVQ EIDDDFFPSS GEEAEAASVG EGGGGGRKVG
460 470 480 490 500
RYRDDGDEDY YKQRLRRWNK LRLQDKEKRL KLEDDSEESD AEFDEGFKVP
510 520 530 540 550
GFLFKKLFKY QQTGVRWLWE LHCQQAGGIL GDEMGLGKTI QIIAFLAGLS
560 570 580 590 600
YSKIRTRGSN YRFEGLGPTV IVCPTTVMHQ WVKEFHTWWP PFRVAILHET
610 620 630 640 650
GSYTHKKEKL IRDVAHCHGI LITSYSYIRL MQDDISRYDW HYVILDEGHK
660 670 680 690 700
IRNPNAAVTL ACKQFRTPHR IILSGSPMQN NLRELWSLFD FIFPGKLGTL
710 720 730 740 750
PVFMEQFSVP ITMGGYSNAS PVQVKTAYKC ACVLRDTINP YLLRRMKSDV
760 770 780 790 800
KMSLSLPDKN EQVLFCRLTD EQHKVYQNFV DSKEVYRILN GEMQIFSGLI
810 820 830 840 850
ALRKICNHPD LFSGGPKNLK GLPDDELEED QFGYWKRSGK MIVVESLLKI
860 870 880 890 900
WHKQGQRVLL FSQSRQMLDI LEVFLRAQKY TYLKMDGTTT IASRQPLITR
910 920 930 940 950
YNEDTSIFVF LLTTRVGGLG VNLTGANRVV IYDPDWNPST DTQARERAWR
960 970 980 990 1000
IGQKKQVTVY RLLTAGTIEE KIYHRQIFKQ FLTNRVLKDP KQRRFFKSND
1010 1020 1030 1040 1050
LYELFTLTSP DASQSTETSA IFAGTGSDVQ TPKCHLKRRI QPAFGADHDV
1060 1070 1080 1090 1100
PKRKKFPASN ISVNDATSSE EKSEAKGAEV NAVTSNRSDP LKDDPHMSSN
1110 1120 1130 1140 1150
VTSNDRLGEE TNAVSGPEEL SVISGNGECS NSSGTGKTSM PSGDESIDEK
1160 1170 1180 1190 1200
LGLSYKRERP SQAQTEAFWE NKQMENNFYK HKSKTKHHSV AEEETLEKHL
1210 1220 1230 1240 1250
RPKQKPKNSK HCRDAKFEGT RIPHLVKKRR YQKQDSENKS EAKEQSNDDY
1260 1270 1280 1290 1300
VLEKLFKKSV GVHSVMKHDA IMDGASPDYV LVEAEANRVA QDALKALRLS
1310 1320 1330 1340 1350
RQRCLGAVSG VPTWTGHRGI SGAPAGKKSR FGKKRNSNFS VQHPSSTSPT
1360 1370 1380 1390 1400
EKCQDGIMKK EGKDNVPEHF SGRAEDADSS SGPLASSSLL AKMRARNHLI
1410 1420 1430 1440 1450
LPERLESESG HLQEASALLP TTEHDDLLVE MRNFIAFQAH TDGQASTREI
1460 1470 1480 1490
LQEFESKLSA SQSCVFRELL RNLCTFHRTS GGEGIWKLKP EYC
Length:1,493
Mass (Da):168,416
Last modified:October 1, 1993 - 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:i285257E2AEC071AC
GO
Isoform CSB-PGBD31 Publication (identifier: P0DP91-1) [UniParc] [UniParc]FASTAAdd to basket
The sequence of this isoform can be found in the external entry P0DP91.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Note: Produced by an alternative splicing event that joins the first 5 exons of ERCC6 gene in frame to the entire PGBD3 coding region, which is located within ERCC6 intron 5. The resulting chimeric protein consists of the N-terminal 465 residues of ERCC6 tethered to the entire PGBD3 sequence.1 Publication
Length:1,061
Mass (Da):119,487
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9X7D6R9X7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
179Annotation 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>
A0A096LNQ7A0A096LNQ7_HUMAN
DNA excision repair protein ERCC-6
ERCC6
77Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054153134R → W1 PublicationCorresponds to variant dbSNP:rs148095899EnsemblClinVar.1
Natural variantiVAR_001216255K → T1 Publication1
Natural variantiVAR_001217399G → D2 PublicationsCorresponds to variant dbSNP:rs2228528EnsemblClinVar.1
Natural variantiVAR_016301425D → A1 PublicationCorresponds to variant dbSNP:rs4253046EnsemblClinVar.1
Natural variantiVAR_016302446G → D1 PublicationCorresponds to variant dbSNP:rs4253047EnsemblClinVar.1
Natural variantiVAR_036021591P → A in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1184760254Ensembl.1
Natural variantiVAR_036022652R → L in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1365187961Ensembl.1
Natural variantiVAR_001218670R → W in CSB. 2 PublicationsCorresponds to variant dbSNP:rs202080674EnsemblClinVar.1
Natural variantiVAR_063511680N → D in CSB. 1 PublicationCorresponds to variant dbSNP:rs1554788393EnsemblClinVar.1
Natural variantiVAR_063512686W → C in CSB. 1 PublicationCorresponds to variant dbSNP:rs751292948Ensembl.1
Natural variantiVAR_063513687S → L in CSB. 1 PublicationCorresponds to variant dbSNP:rs1026438103EnsemblClinVar.1
Natural variantiVAR_001219851W → R in CSB. 2 PublicationsCorresponds to variant dbSNP:rs368728467EnsemblClinVar.1
Natural variantiVAR_063514871L → P in COFS1. 1 Publication1
Natural variantiVAR_016303942T → M1 PublicationCorresponds to variant dbSNP:rs2228525EnsemblClinVar.1
Natural variantiVAR_001220957V → G in CSB. 2 Publications1
Natural variantiVAR_063515987L → P in COFS1. 1 PublicationCorresponds to variant dbSNP:rs121917905EnsemblClinVar.1
Natural variantiVAR_0163041002Y → C1 PublicationCorresponds to variant dbSNP:rs4253206Ensembl.1
Natural variantiVAR_0360231038R → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012211042P → L in CSB. 2 Publications1
Natural variantiVAR_0012221095P → R3 PublicationsCorresponds to variant dbSNP:rs4253208EnsemblClinVar.1
Natural variantiVAR_0012231097M → V2 PublicationsCorresponds to variant dbSNP:rs2228526EnsemblClinVar.1
Natural variantiVAR_0360241119E → Q in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0360251119E → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0012241213R → G3 PublicationsCorresponds to variant dbSNP:rs2228527EnsemblClinVar.1
Natural variantiVAR_0374361220T → I. Corresponds to variant dbSNP:rs34704611EnsemblClinVar.1
Natural variantiVAR_0163051230R → P1 PublicationCorresponds to variant dbSNP:rs4253211EnsemblClinVar.1
Natural variantiVAR_0163061308V → L1 PublicationCorresponds to variant dbSNP:rs2229761EnsemblClinVar.1
Natural variantiVAR_0163071322G → V1 PublicationCorresponds to variant dbSNP:rs4253219EnsemblClinVar.1
Natural variantiVAR_0374371355D → E. Corresponds to variant dbSNP:rs34917815EnsemblClinVar.1
Natural variantiVAR_0163081372G → R1 PublicationCorresponds to variant dbSNP:rs4253227EnsemblClinVar.1
Natural variantiVAR_0163091382G → R1 PublicationCorresponds to variant dbSNP:rs4253228Ensembl.1
Natural variantiVAR_0163101410G → R1 PublicationCorresponds to variant dbSNP:rs4253229Ensembl.1
Natural variantiVAR_0012251413Q → R2 PublicationsCorresponds to variant dbSNP:rs2228529EnsemblClinVar.1
Natural variantiVAR_0163111441T → I1 PublicationCorresponds to variant dbSNP:rs4253230EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7229.1 [Q03468-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A44224

NCBI Reference Sequences

More...
RefSeqi
NP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2074

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2074

UCSC genome browser

More...
UCSCi
uc001jhs.6 human [Q03468-1]
uc001jhu.4 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04791 mRNA Translation: AAA52397.1
AY204752 Genomic DNA Translation: AAO13487.1
AC073366 Genomic DNA No translation available.
AL138760 Genomic DNA No translation available.
CH471187 Genomic DNA Translation: EAW93094.1
CH471187 Genomic DNA Translation: EAW93097.1
CCDSiCCDS7229.1 [Q03468-1]
PIRiA44224
RefSeqiNP_000115.1, NM_000124.3 [Q03468-1]
NP_001333369.1, NM_001346440.1 [Q03468-1]

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
4CVOX-ray1.85A84-160[»]
SMRiQ03468
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108386, 60 interactors
ComplexPortaliCPX-1099 B-WICH chromatin remodelling complex
CORUMiQ03468
DIPiDIP-193N
IntActiQ03468, 24 interactors
MINTiQ03468
STRINGi9606.ENSP00000348089

PTM databases

iPTMnetiQ03468
PhosphoSitePlusiQ03468

Polymorphism and mutation databases

BioMutaiERCC6
DMDMi416959

Proteomic databases

EPDiQ03468
jPOSTiQ03468
MassIVEiQ03468
MaxQBiQ03468
PaxDbiQ03468
PeptideAtlasiQ03468
PRIDEiQ03468
ProteomicsDBi18566
58213

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355832; ENSP00000348089; ENSG00000225830 [Q03468-1]
GeneIDi2074
KEGGihsa:2074
UCSCiuc001jhs.6 human [Q03468-1]
uc001jhu.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2074
DisGeNETi2074

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ERCC6
GeneReviewsiERCC6
HGNCiHGNC:3438 ERCC6
MalaCardsiERCC6
MIMi133540 phenotype
214150 phenotype
278800 phenotype
600630 phenotype
609413 gene
613761 phenotype
neXtProtiNX_Q03468
OpenTargetsiENSG00000225830
Orphaneti90321 Cockayne syndrome type 1
90322 Cockayne syndrome type 2
90324 Cockayne syndrome type 3
1466 COFS syndrome
619 NON RARE IN EUROPE: Primary ovarian failure
178338 UV-sensitive syndrome
PharmGKBiPA27852

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHMN Eukaryota
KOG0387 Eukaryota
ENOG410XP4Z LUCA
ENOG410ZDPG LUCA
GeneTreeiENSGT00940000158057
HOGENOMiHOG000170952
InParanoidiQ03468
KOiK10841
OMAiQVDSAIH
OrthoDBi1227195at2759
PhylomeDBiQ03468
TreeFamiTF101236
TF328011

Enzyme and pathway databases

ReactomeiR-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-5250924 B-WICH complex positively regulates rRNA expression
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-73762 RNA Polymerase I Transcription Initiation
SIGNORiQ03468

Miscellaneous databases

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

More...
ChiTaRSi
ERCC6 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ERCC6

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

More...
GenomeRNAii
2074

Pharos

More...
Pharosi
Q03468

Protein Ontology

More...
PROi
PR:Q03468

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000258838 Expressed in 89 organ(s), highest expression level in leukocyte
ExpressionAtlasiQ03468 baseline and differential
GenevisibleiQ03468 HS

Family and domain databases

Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00487 DEXDc, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
PROSITEiView protein in PROSITE
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 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 nameiERCC6_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: Q03468
Secondary accession number(s): D3DX94, E7EV46, Q5W0L9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: September 18, 2019
This is version 208 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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