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Protein

Recombining binding protein suppressor of hairless

Gene

RBPJ

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

Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA (PubMed:21991380). Binds to the oxygen responsive element of COX4I2 and activates its transcription under hypoxia conditions (4% oxygen) (PubMed:23303788). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by repressing transcription of NADPH oxidase subunits (By similarity).By similarity2 Publications

Caution

Despite some similarity with the "phage" integrase family, it has no recombinase activity.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi58 – 658
DNA bindingi192 – 20110
DNA bindingi265 – 297Add BLAST33

<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 functionActivator, DNA-binding, Repressor
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription

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

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SignaLinki
Q06330

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q06330

<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:
Recombining binding protein suppressor of hairless
Alternative name(s):
CBF-1
J kappa-recombination signal-binding protein
RBP-J kappa
Short name:
RBP-J
Short name:
RBP-JK
Renal carcinoma antigen NY-REN-30
<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:RBPJImported
Synonyms:IGKJRB, IGKJRB1, RBPJK, RBPSUH
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000168214.20

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5724 RBPJ

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
147183 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q06330

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

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

<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

Adams-Oliver syndrome 3 (AOS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.
See also OMIM:614814
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_06892963E → G in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907270EnsemblClinVar.1
Natural variantiVAR_068930169K → E in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907271EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3516

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

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GeneReviewsi
RBPJ

MalaCards human disease database

More...
MalaCardsi
RBPJ
MIMi614814 phenotype

Open Targets

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OpenTargetsi
ENSG00000168214

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

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Orphaneti
974 Adams-Oliver syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34292

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RBPJ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
338817983

<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_00002085671 – 500Recombining binding protein suppressor of hairlessAdd BLAST500

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 residuei175N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q06330

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q06330

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

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PaxDbi
Q06330

PeptideAtlas

More...
PeptideAtlasi
Q06330

PRoteomics IDEntifications database

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PRIDEi
Q06330

ProteomicsDB human proteome resource

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ProteomicsDBi
58432
58433 [Q06330-2]
58434 [Q06330-3]
58435 [Q06330-4]
58436 [Q06330-5]
58437 [Q06330-6]
58438 [Q06330-7]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q06330-3 [Q06330-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q06330

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

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PhosphoSitePlusi
Q06330

<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
ENSG00000168214 Expressed in 242 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_RBPJ

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q06330 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q06330 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA060647

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

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

Interacts with activated NOTCH1, NOTCH2 or NOTCH3. Interacts with MINT/SHARP. This interaction may mediate the recruitment of large corepressor complexes containing proteins such as HDAC1, HDAC2, NCOR2, SAP30, FHL1/KYOT2 and CIR1. Interacts with EP300, MAML1 and PTF1A. Interacts with Epstein-Barr virus EBNA2, EBNA3, EBNA4 and EBNA6. Interacts with RITA1/C12orf52, leading to nuclear export, prevent the interaction between RBPJ and NICD product and subsequent down-regulation of the Notch signaling pathway. Interacts with SNW1. Interacts with CHCHD2 and CXXC5 (PubMed:23303788). Interacts with BEND6 (via BEN domain). Interacts with NKAPL (By similarity). Interacts with ZMIZ1. Interacts with RBM15 (By similarity).By similarity11 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
109736, 134 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q06330

Database of interacting proteins

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DIPi
DIP-33326N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q06330

Protein interaction database and analysis system

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IntActi
Q06330, 114 interactors

Molecular INTeraction database

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MINTi
Q06330

STRING: functional protein association networks

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STRINGi
9606.ENSP00000345206

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q06330

<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

1500
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q06330

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

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SMRi
Q06330

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q06330

<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>Domaini355 – 445IPT/TIGAdd BLAST91

<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 Su(H) family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3743 Eukaryota
ENOG410XV7K LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005197

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000253907

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006618

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q06330

KEGG Orthology (KO)

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KOi
K06053

Identification of Orthologs from Complete Genome Data

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OMAi
DMPHFGL

Database of Orthologous Groups

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OrthoDBi
EOG091G057S

Database for complete collections of gene phylogenies

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PhylomeDBi
Q06330

TreeFam database of animal gene trees

More...
TreeFami
TF314117

Family and domain databases

Conserved Domains Database

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CDDi
cd01176 IPT_RBP-Jkappa, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 1 hit
2.60.40.1450, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR015350 Beta-trefoil_DNA-bd_dom
IPR036358 BTD_sf
IPR040159 CLS_fam
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR008967 p53-like_TF_DNA-bd
IPR015351 RBP-J/Cbf11/Cbf12_DNA-bd
IPR037095 RBP-J/Cbf11/Cbf12_DNA-bd_sf
IPR038007 RBP-Jkappa_IPT

The PANTHER Classification System

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PANTHERi
PTHR10665 PTHR10665, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF09270 BTD, 1 hit
PF09271 LAG1-DNAbind, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01268 BTD, 1 hit
SM01267 LAG1_DNAbind, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF110217 SSF110217, 1 hit
SSF49417 SSF49417, 1 hit
SSF81296 SSF81296, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 7 <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 7 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All

Isoform APCR-2 (identifier: Q06330-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MDHTEGSPAE EPPAHAPSPG KFGERPPPKR LTREAMRNYL KERGDQTVLI
60 70 80 90 100
LHAKVAQKSY GNEKRFFCPP PCVYLMGSGW KKKKEQMERD GCSEQESQPC
110 120 130 140 150
AFIGIGNSDQ EMQQLNLEGK NYCTAKTLYI SDSDKRKHFM LSVKMFYGNS
160 170 180 190 200
DDIGVFLSKR IKVISKPSKK KQSLKNADLC IASGTKVALF NRLRSQTVST
210 220 230 240 250
RYLHVEGGNF HASSQQWGAF FIHLLDDDES EGEEFTVRDG YIHYGQTVKL
260 270 280 290 300
VCSVTGMALP RLIIRKVDKQ TALLDADDPV SQLHKCAFYL KDTERMYLCL
310 320 330 340 350
SQERIIQFQA TPCPKEPNKE MINDGASWTI ISTDKAEYTF YEGMGPVLAP
360 370 380 390 400
VTPVPVVESL QLNGGGDVAM LELTGQNFTP NLRVWFGDVE AETMYRCGES
410 420 430 440 450
MLCVVPDISA FREGWRWVRQ PVQVPVTLVR NDGIIYSTSL TFTYTPEPGP
460 470 480 490 500
RPHCSAAGAI LRANSSQVPP NESNTNSEGS YTNASTNSTS VTSSTATVVS
Length:500
Mass (Da):55,637
Last modified:June 28, 2011 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i91E50D2DE9087EDA
GO
Isoform APCR-1 (identifier: Q06330-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-75: Missing.

Show »
Length:425
Mass (Da):47,180
Checksum:i31CC3FCBED8E739E
GO
Isoform APCR-3 (identifier: Q06330-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.
     90-95: DGCSEQ → MAWIKR

Show »
Length:411
Mass (Da):45,642
Checksum:iF213446BAF8AA7BF
GO
Isoform 4 (identifier: Q06330-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDHTEGSPAEEPPAHAPSPG → MGGCR

Show »
Length:485
Mass (Da):54,146
Checksum:iF0907B0A36490025
GO
Isoform 5 (identifier: Q06330-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.

Show »
Length:465
Mass (Da):51,877
Checksum:i683E1FC7CC0FACC8
GO
Isoform 6 (identifier: Q06330-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MDHTEGSPAEEPPAHAPSPG → MAWIKR

Show »
Length:486
Mass (Da):54,427
Checksum:i31FD3B3D01B13C4C
GO
Isoform 7 (identifier: Q06330-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MDHTEGSPAEEPPAHAPSP → MAPVVT

Show »
Length:487
Mass (Da):54,297
Checksum:iBF5DE1E391B0E947
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 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R927D6R927_HUMAN
Recombining-binding protein suppres...
RBPJ
382Annotation 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>
D6RA45D6RA45_HUMAN
Recombining-binding protein suppres...
RBPJ
189Annotation 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>
D6RBQ8D6RBQ8_HUMAN
Recombining-binding protein suppres...
RBPJ
157Annotation 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>
D6RAT2D6RAT2_HUMAN
Recombining-binding protein suppres...
RBPJ
94Annotation 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>
D6R946D6R946_HUMAN
Recombining-binding protein suppres...
RBPJ
178Annotation 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>
D6RB37D6RB37_HUMAN
Recombining-binding protein suppres...
RBPJ
143Annotation 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>
D6RCM1D6RCM1_HUMAN
Recombining-binding protein suppres...
RBPJ
229Annotation 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>
D6R9K5D6R9K5_HUMAN
Recombining-binding protein suppres...
RBPJ
110Annotation 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>
D6REC2D6REC2_HUMAN
Recombining-binding protein suppres...
RBPJ
113Annotation 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>
D6R9X3D6R9X3_HUMAN
Recombining-binding protein suppres...
RBPJ
107Annotation 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>
There are more potential isoformsShow all

<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 AAA16254 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti7S → L in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti7S → L in AAA16253 (PubMed:8406481).Curated1
Sequence conflicti7S → L in AAA16254 (PubMed:8406481).Curated1
Sequence conflicti140 – 141ML → IF in AAA60258 (PubMed:8406481).Curated2
Sequence conflicti240G → V in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti248V → C in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti265R → M in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti270Q → H in AAA60258 (PubMed:8406481).Curated1
Sequence conflicti462R → P in AAA60258 (PubMed:8406481).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06892963E → G in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907270EnsemblClinVar.1
Natural variantiVAR_068930169K → E in AOS3; shows decreased binding to the HES1 promoter compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907271EnsemblClinVar.1
Natural variantiVAR_028994291K → E. Corresponds to variant dbSNP:rs1064372Ensembl.1
Natural variantiVAR_028995334D → H. Corresponds to variant dbSNP:rs1064376Ensembl.1
Natural variantiVAR_057244408I → V. Corresponds to variant dbSNP:rs1064381Ensembl.1
Natural variantiVAR_028996419R → Q. Corresponds to variant dbSNP:rs1064384Ensembl.1
Natural variantiVAR_028997425P → S. Corresponds to variant dbSNP:rs1064387Ensembl.1
Natural variantiVAR_028998456A → V1 PublicationCorresponds to variant dbSNP:rs1064402Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0027181 – 89Missing in isoform APCR-3. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_0027171 – 75Missing in isoform APCR-1. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_0215721 – 35Missing in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_0215731 – 20MDHTE…APSPG → MGGCR in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0215741 – 20MDHTE…APSPG → MAWIKR in isoform 6. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0426371 – 19MDHTE…HAPSP → MAPVVT in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_00271990 – 95DGCSEQ → MAWIKR in isoform APCR-3. 1 Publication6

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
L07872 mRNA Translation: AAA60258.1
L07874 mRNA Translation: AAA16253.1
L07875 mRNA Translation: AAA16254.1 Different initiation.
L07876 mRNA Translation: AAA16356.1
AK302230 mRNA Translation: BAG63584.1
AC093637 Genomic DNA No translation available.
AC097109 Genomic DNA No translation available.
AC097714 Genomic DNA No translation available.
AC111003 Genomic DNA No translation available.
BC020780 mRNA Translation: AAH20780.1
BC053531 mRNA No translation available.
BC064976 mRNA Translation: AAH64976.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33969.1 [Q06330-6]
CCDS3436.1 [Q06330-4]
CCDS3437.1 [Q06330-1]
CCDS43219.1 [Q06330-7]
CCDS87214.1 [Q06330-5]

Protein sequence database of the Protein Information Resource

More...
PIRi
A47214

NCBI Reference Sequences

More...
RefSeqi
NP_005340.2, NM_005349.3 [Q06330-1]
NP_056958.3, NM_015874.4 [Q06330-7]
NP_976028.1, NM_203283.2 [Q06330-4]
NP_976029.1, NM_203284.2 [Q06330-6]
XP_005248218.1, XM_005248161.3 [Q06330-6]
XP_011512142.1, XM_011513840.2 [Q06330-6]
XP_016863661.1, XM_017008172.1
XP_016863662.1, XM_017008173.1 [Q06330-6]
XP_016863663.1, XM_017008174.1 [Q06330-6]
XP_016863664.1, XM_017008175.1 [Q06330-6]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.479396

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000342295; ENSP00000345206; ENSG00000168214 [Q06330-1]
ENST00000342320; ENSP00000340124; ENSG00000168214 [Q06330-6]
ENST00000345843; ENSP00000305815; ENSG00000168214 [Q06330-4]
ENST00000348160; ENSP00000339699; ENSG00000168214 [Q06330-7]
ENST00000355476; ENSP00000347659; ENSG00000168214 [Q06330-6]
ENST00000361572; ENSP00000354528; ENSG00000168214 [Q06330-1]
ENST00000507561; ENSP00000423907; ENSG00000168214 [Q06330-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3516

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3516

UCSC genome browser

More...
UCSCi
uc003grx.3 human [Q06330-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L07872 mRNA Translation: AAA60258.1
L07874 mRNA Translation: AAA16253.1
L07875 mRNA Translation: AAA16254.1 Different initiation.
L07876 mRNA Translation: AAA16356.1
AK302230 mRNA Translation: BAG63584.1
AC093637 Genomic DNA No translation available.
AC097109 Genomic DNA No translation available.
AC097714 Genomic DNA No translation available.
AC111003 Genomic DNA No translation available.
BC020780 mRNA Translation: AAH20780.1
BC053531 mRNA No translation available.
BC064976 mRNA Translation: AAH64976.1
CCDSiCCDS33969.1 [Q06330-6]
CCDS3436.1 [Q06330-4]
CCDS3437.1 [Q06330-1]
CCDS43219.1 [Q06330-7]
CCDS87214.1 [Q06330-5]
PIRiA47214
RefSeqiNP_005340.2, NM_005349.3 [Q06330-1]
NP_056958.3, NM_015874.4 [Q06330-7]
NP_976028.1, NM_203283.2 [Q06330-4]
NP_976029.1, NM_203284.2 [Q06330-6]
XP_005248218.1, XM_005248161.3 [Q06330-6]
XP_011512142.1, XM_011513840.2 [Q06330-6]
XP_016863661.1, XM_017008172.1
XP_016863662.1, XM_017008173.1 [Q06330-6]
XP_016863663.1, XM_017008174.1 [Q06330-6]
XP_016863664.1, XM_017008175.1 [Q06330-6]
UniGeneiHs.479396

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
2F8XX-ray3.25C23-449[»]
3NBNX-ray3.45A/D23-448[»]
3V79X-ray3.85C23-449[»]
ProteinModelPortaliQ06330
SMRiQ06330
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109736, 134 interactors
CORUMiQ06330
DIPiDIP-33326N
ELMiQ06330
IntActiQ06330, 114 interactors
MINTiQ06330
STRINGi9606.ENSP00000345206

Chemistry databases

BindingDBiQ06330

PTM databases

iPTMnetiQ06330
PhosphoSitePlusiQ06330

Polymorphism and mutation databases

BioMutaiRBPJ
DMDMi338817983

Proteomic databases

EPDiQ06330
MaxQBiQ06330
PaxDbiQ06330
PeptideAtlasiQ06330
PRIDEiQ06330
ProteomicsDBi58432
58433 [Q06330-2]
58434 [Q06330-3]
58435 [Q06330-4]
58436 [Q06330-5]
58437 [Q06330-6]
58438 [Q06330-7]
TopDownProteomicsiQ06330-3 [Q06330-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3516
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000342295; ENSP00000345206; ENSG00000168214 [Q06330-1]
ENST00000342320; ENSP00000340124; ENSG00000168214 [Q06330-6]
ENST00000345843; ENSP00000305815; ENSG00000168214 [Q06330-4]
ENST00000348160; ENSP00000339699; ENSG00000168214 [Q06330-7]
ENST00000355476; ENSP00000347659; ENSG00000168214 [Q06330-6]
ENST00000361572; ENSP00000354528; ENSG00000168214 [Q06330-1]
ENST00000507561; ENSP00000423907; ENSG00000168214 [Q06330-5]
GeneIDi3516
KEGGihsa:3516
UCSCiuc003grx.3 human [Q06330-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3516
DisGeNETi3516
EuPathDBiHostDB:ENSG00000168214.20

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RBPJ
GeneReviewsiRBPJ
HGNCiHGNC:5724 RBPJ
HPAiHPA060647
MalaCardsiRBPJ
MIMi147183 gene
614814 phenotype
neXtProtiNX_Q06330
OpenTargetsiENSG00000168214
Orphaneti974 Adams-Oliver syndrome
PharmGKBiPA34292

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3743 Eukaryota
ENOG410XV7K LUCA
GeneTreeiENSGT00390000005197
HOGENOMiHOG000253907
HOVERGENiHBG006618
InParanoidiQ06330
KOiK06053
OMAiDMPHFGL
OrthoDBiEOG091G057S
PhylomeDBiQ06330
TreeFamiTF314117

Enzyme and pathway databases

ReactomeiR-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-350054 Notch-HLH transcription pathway
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription
SignaLinkiQ06330
SIGNORiQ06330

Miscellaneous databases

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

More...
ChiTaRSi
RBPJ human
EvolutionaryTraceiQ06330

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RBPJ

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

More...
GenomeRNAii
3516

Protein Ontology

More...
PROi
PR:Q06330

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168214 Expressed in 242 organ(s), highest expression level in corpus callosum
CleanExiHS_RBPJ
ExpressionAtlasiQ06330 baseline and differential
GenevisibleiQ06330 HS

Family and domain databases

CDDicd01176 IPT_RBP-Jkappa, 1 hit
Gene3Di2.60.40.10, 1 hit
2.60.40.1450, 1 hit
InterProiView protein in InterPro
IPR015350 Beta-trefoil_DNA-bd_dom
IPR036358 BTD_sf
IPR040159 CLS_fam
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR008967 p53-like_TF_DNA-bd
IPR015351 RBP-J/Cbf11/Cbf12_DNA-bd
IPR037095 RBP-J/Cbf11/Cbf12_DNA-bd_sf
IPR038007 RBP-Jkappa_IPT
PANTHERiPTHR10665 PTHR10665, 1 hit
PfamiView protein in Pfam
PF09270 BTD, 1 hit
PF09271 LAG1-DNAbind, 1 hit
SMARTiView protein in SMART
SM01268 BTD, 1 hit
SM01267 LAG1_DNAbind, 1 hit
SUPFAMiSSF110217 SSF110217, 1 hit
SSF49417 SSF49417, 1 hit
SSF81296 SSF81296, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiSUH_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: Q06330
Secondary accession number(s): B4DY22, Q5XKH9, Q6P1N3
<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: June 1, 1994
Last sequence update: June 28, 2011
Last modified: December 5, 2018
This is version 187 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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