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Protein

Contactin-1

Gene

CNTN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processCell adhesion, Notch signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-373760 L1CAM interactions
R-HSA-447043 Neurofascin interactions
SignaLinkiQ12860

Names & Taxonomyi

Protein namesi
Recommended name:
Contactin-1
Alternative name(s):
Glycoprotein gp135
Neural cell surface protein F3
Gene namesi
Name:CNTN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000018236.14
HGNCiHGNC:2171 CNTN1
MIMi600016 gene
neXtProtiNX_Q12860

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

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Myopathy, congenital, Compton-North (MYPCN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band.
See also OMIM:612540

Organism-specific databases

DisGeNETi1272
MalaCardsiCNTN1
MIMi612540 phenotype
OpenTargetsiENSG00000018236
Orphaneti210163 Congenital lethal myopathy, Compton-North type
PharmGKBiPA26685

Polymorphism and mutation databases

BioMutaiCNTN1
DMDMi2497301

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Add BLAST20
ChainiPRO_000001468521 – ?993Contactin-1Add BLAST973
PropeptideiPRO_0000014686?994 – 1018Removed in mature formAdd BLAST25

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi65 ↔ 114PROSITE-ProRule annotation
Disulfide bondi158 ↔ 211PROSITE-ProRule annotation
Glycosylationi208N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi258N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi263 ↔ 310PROSITE-ProRule annotation
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi352 ↔ 391PROSITE-ProRule annotation
Disulfide bondi436 ↔ 484PROSITE-ProRule annotation
Glycosylationi457N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi473N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi494N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi521N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi526 ↔ 583PROSITE-ProRule annotation
Glycosylationi591N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi933N-linked (GlcNAc...) asparagineSequence analysis1
Lipidationi993GPI-anchor amidated serineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

EPDiQ12860
MaxQBiQ12860
PaxDbiQ12860
PeptideAtlasiQ12860
PRIDEiQ12860
ProteomicsDBi58988
58989 [Q12860-2]
58990 [Q12860-3]
TopDownProteomicsiQ12860-3 [Q12860-3]

PTM databases

iPTMnetiQ12860
PhosphoSitePlusiQ12860
SwissPalmiQ12860

Expressioni

Tissue specificityi

Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.2 Publications

Gene expression databases

BgeeiENSG00000018236 Expressed in 178 organ(s), highest expression level in corpus callosum
CleanExiHS_CNTN1
ExpressionAtlasiQ12860 baseline and differential
GenevisibleiQ12860 HS

Organism-specific databases

HPAiCAB025200
HPA070467

Interactioni

Subunit structurei

Monomer. Interacts with CNTNAP1 in cis form (By similarity). Binds to the carbonic-anhydrase like domain of PTPRZ1 (PubMed:20133774). Interacts with NOTCH1 and TNR. Detected in a complex with NRCAM and PTPRB (By similarity).By similarity2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi107672, 26 interactors
DIPiDIP-59714N
IntActiQ12860, 8 interactors
MINTiQ12860
STRINGi9606.ENSP00000325660

Structurei

Secondary structure

11018
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ12860
SMRiQ12860
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ12860

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini41 – 131Ig-like C2-type 1Add BLAST91
Domaini137 – 223Ig-like C2-type 2Add BLAST87
Domaini241 – 326Ig-like C2-type 3Add BLAST86
Domaini331 – 407Ig-like C2-type 4Add BLAST77
Domaini413 – 500Ig-like C2-type 5Add BLAST88
Domaini504 – 601Ig-like C2-type 6Add BLAST98
Domaini606 – 704Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini709 – 806Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST98
Domaini811 – 906Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini907 – 1000Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST94

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi602 – 609Gly/Pro-rich8

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3513 Eukaryota
ENOG410XSVG LUCA
GeneTreeiENSGT00760000118840
HOVERGENiHBG051047
InParanoidiQ12860
KOiK06759
OMAiHYGNNFG
OrthoDBiEOG091G00X7
PhylomeDBiQ12860
TreeFamiTF351103

Family and domain databases

CDDicd00063 FN3, 4 hits
Gene3Di2.60.40.10, 10 hits
InterProiView protein in InterPro
IPR036992 Contactin-1
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PANTHERiPTHR43905:SF2 PTHR43905:SF2, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS50835 IG_LIKE, 6 hits

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12860-1) [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
MKMWLLVSHL VIISITTCLA EFTWYRRYGH GVSEEDKGFG PIFEEQPINT
60 70 80 90 100
IYPEESLEGK VSLNCRARAS PFPVYKWRMN NGDVDLTSDR YSMVGGNLVI
110 120 130 140 150
NNPDKQKDAG IYYCLASNNY GMVRSTEATL SFGYLDPFPP EERPEVRVKE
160 170 180 190 200
GKGMVLLCDP PYHFPDDLSY RWLLNEFPVF ITMDKRRFVS QTNGNLYIAN
210 220 230 240 250
VEASDKGNYS CFVSSPSITK SVFSKFIPLI PIPERTTKPY PADIVVQFKD
260 270 280 290 300
VYALMGQNVT LECFALGNPV PDIRWRKVLE PMPSTAEIST SGAVLKIFNI
310 320 330 340 350
QLEDEGIYEC EAENIRGKDK HQARIYVQAF PEWVEHINDT EVDIGSDLYW
360 370 380 390 400
PCVATGKPIP TIRWLKNGYA YHKGELRLYD VTFENAGMYQ CIAENTYGAI
410 420 430 440 450
YANAELKILA LAPTFEMNPM KKKILAAKGG RVIIECKPKA APKPKFSWSK
460 470 480 490 500
GTEWLVNSSR ILIWEDGSLE INNITRNDGG IYTCFAENNR GKANSTGTLV
510 520 530 540 550
ITDPTRIILA PINADITVGE NATMQCAASF DPALDLTFVW SFNGYVIDFN
560 570 580 590 600
KENIHYQRNF MLDSNGELLI RNAQLKHAGR YTCTAQTIVD NSSASADLVV
610 620 630 640 650
RGPPGPPGGL RIEDIRATSV ALTWSRGSDN HSPISKYTIQ TKTILSDDWK
660 670 680 690 700
DAKTDPPIIE GNMEAARAVD LIPWMEYEFR VVATNTLGRG EPSIPSNRIK
710 720 730 740 750
TDGAAPNVAP SDVGGGGGRN RELTITWAPL SREYHYGNNF GYIVAFKPFD
760 770 780 790 800
GEEWKKVTVT NPDTGRYVHK DETMSPSTAF QVKVKAFNNK GDGPYSLVAV
810 820 830 840 850
INSAQDAPSE APTEVGVKVL SSSEISVHWE HVLEKIVESY QIRYWAAHDK
860 870 880 890 900
EEAANRVQVT SQEYSARLEN LLPDTQYFIE VGACNSAGCG PPSDMIEAFT
910 920 930 940 950
KKAPPSQPPR IISSVRSGSR YIITWDHVVA LSNESTVTGY KVLYRPDGQH
960 970 980 990 1000
DGKLYSTHKH SIEVPIPRDG EYVVEVRAHS DGGDGVVSQV KISGAPTLSP
1010
SLLGLLLPAF GILVYLEF
Length:1,018
Mass (Da):113,320
Last modified:November 1, 1996 - v1
Checksum:i4B8FDC5BFD434ED5
GO
Isoform 2 (identifier: Q12860-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-31: Missing.

Show »
Length:1,007
Mass (Da):111,867
Checksum:i0078E9F82F498EE0
GO
Isoform 3 (identifier: Q12860-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     603-627: PPGPPGGLRIEDIRATSVALTWSRG → KNRKGGEKNMVDSFLPVCASLPPTW
     628-1018: Missing.

Show »
Length:627
Mass (Da):70,604
Checksum:i86825008EAAA085A
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VUI9F8VUI9_HUMAN
Contactin-1
CNTN1
90Annotation score:
F8VUI8F8VUI8_HUMAN
Contactin-1
CNTN1
85Annotation score:
F8VQW3F8VQW3_HUMAN
Contactin-1
CNTN1
62Annotation score:
F8VX96F8VX96_HUMAN
Contactin-1
CNTN1
72Annotation score:
H0YIJ1H0YIJ1_HUMAN
Contactin-1
CNTN1
57Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti682V → I AA sequence (PubMed:2026173).Curated1
Sequence conflicti687L → P AA sequence (PubMed:2026173).Curated1
Sequence conflicti689R → I AA sequence (PubMed:2026173).Curated1
Sequence conflicti692P → F AA sequence (PubMed:2026173).Curated1
Isoform 3 (identifier: Q12860-3)
Sequence conflicti610K → I in BAF82233 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035506794P → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_011722798V → L. Corresponds to variant dbSNP:rs1056020Ensembl.1
Natural variantiVAR_049866824E → G. Corresponds to variant dbSNP:rs11553341Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00250021 – 31Missing in isoform 2. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_011959603 – 627PPGPP…TWSRG → KNRKGGEKNMVDSFLPVCAS LPPTW in isoform 3. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_011960628 – 1018Missing in isoform 3. 2 PublicationsAdd BLAST391

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z21488 mRNA Translation: CAA79696.1
U07819 mRNA Translation: AAA67920.1
U07820 mRNA Translation: AAA67921.1
AK289544 mRNA Translation: BAF82233.1
AK289698 mRNA Translation: BAF82387.1
BC036569 mRNA Translation: AAH36569.1
CCDSiCCDS58225.1 [Q12860-3]
CCDS8737.1 [Q12860-1]
CCDS8738.1 [Q12860-2]
PIRiA54744
S15394
RefSeqiNP_001242992.1, NM_001256063.1 [Q12860-3]
NP_001242993.1, NM_001256064.1 [Q12860-3]
NP_001834.2, NM_001843.3 [Q12860-1]
NP_778203.1, NM_175038.2 [Q12860-2]
XP_005268708.1, XM_005268651.2 [Q12860-1]
XP_006719304.1, XM_006719241.2 [Q12860-1]
XP_011536228.1, XM_011537926.2 [Q12860-1]
XP_011536229.1, XM_011537927.2 [Q12860-1]
XP_016874314.1, XM_017018825.1
XP_016874315.1, XM_017018826.1 [Q12860-3]
XP_016874316.1, XM_017018827.1 [Q12860-3]
UniGeneiHs.143434
Hs.739161
Hs.741112

Genome annotation databases

EnsembliENST00000347616; ENSP00000325660; ENSG00000018236 [Q12860-1]
ENST00000348761; ENSP00000261160; ENSG00000018236 [Q12860-2]
ENST00000547702; ENSP00000448004; ENSG00000018236 [Q12860-3]
ENST00000547849; ENSP00000448653; ENSG00000018236 [Q12860-3]
ENST00000551295; ENSP00000447006; ENSG00000018236 [Q12860-1]
GeneIDi1272
KEGGihsa:1272
UCSCiuc001rmm.3 human [Q12860-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z21488 mRNA Translation: CAA79696.1
U07819 mRNA Translation: AAA67920.1
U07820 mRNA Translation: AAA67921.1
AK289544 mRNA Translation: BAF82233.1
AK289698 mRNA Translation: BAF82387.1
BC036569 mRNA Translation: AAH36569.1
CCDSiCCDS58225.1 [Q12860-3]
CCDS8737.1 [Q12860-1]
CCDS8738.1 [Q12860-2]
PIRiA54744
S15394
RefSeqiNP_001242992.1, NM_001256063.1 [Q12860-3]
NP_001242993.1, NM_001256064.1 [Q12860-3]
NP_001834.2, NM_001843.3 [Q12860-1]
NP_778203.1, NM_175038.2 [Q12860-2]
XP_005268708.1, XM_005268651.2 [Q12860-1]
XP_006719304.1, XM_006719241.2 [Q12860-1]
XP_011536228.1, XM_011537926.2 [Q12860-1]
XP_011536229.1, XM_011537927.2 [Q12860-1]
XP_016874314.1, XM_017018825.1
XP_016874315.1, XM_017018826.1 [Q12860-3]
XP_016874316.1, XM_017018827.1 [Q12860-3]
UniGeneiHs.143434
Hs.739161
Hs.741112

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EE2NMR-A798-903[»]
3S97X-ray2.30C/D133-329[»]
ProteinModelPortaliQ12860
SMRiQ12860
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107672, 26 interactors
DIPiDIP-59714N
IntActiQ12860, 8 interactors
MINTiQ12860
STRINGi9606.ENSP00000325660

PTM databases

iPTMnetiQ12860
PhosphoSitePlusiQ12860
SwissPalmiQ12860

Polymorphism and mutation databases

BioMutaiCNTN1
DMDMi2497301

Proteomic databases

EPDiQ12860
MaxQBiQ12860
PaxDbiQ12860
PeptideAtlasiQ12860
PRIDEiQ12860
ProteomicsDBi58988
58989 [Q12860-2]
58990 [Q12860-3]
TopDownProteomicsiQ12860-3 [Q12860-3]

Protocols and materials databases

DNASUi1272
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347616; ENSP00000325660; ENSG00000018236 [Q12860-1]
ENST00000348761; ENSP00000261160; ENSG00000018236 [Q12860-2]
ENST00000547702; ENSP00000448004; ENSG00000018236 [Q12860-3]
ENST00000547849; ENSP00000448653; ENSG00000018236 [Q12860-3]
ENST00000551295; ENSP00000447006; ENSG00000018236 [Q12860-1]
GeneIDi1272
KEGGihsa:1272
UCSCiuc001rmm.3 human [Q12860-1]

Organism-specific databases

CTDi1272
DisGeNETi1272
EuPathDBiHostDB:ENSG00000018236.14
GeneCardsiCNTN1
HGNCiHGNC:2171 CNTN1
HPAiCAB025200
HPA070467
MalaCardsiCNTN1
MIMi600016 gene
612540 phenotype
neXtProtiNX_Q12860
OpenTargetsiENSG00000018236
Orphaneti210163 Congenital lethal myopathy, Compton-North type
PharmGKBiPA26685
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3513 Eukaryota
ENOG410XSVG LUCA
GeneTreeiENSGT00760000118840
HOVERGENiHBG051047
InParanoidiQ12860
KOiK06759
OMAiHYGNNFG
OrthoDBiEOG091G00X7
PhylomeDBiQ12860
TreeFamiTF351103

Enzyme and pathway databases

ReactomeiR-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-2979096 NOTCH2 Activation and Transmission of Signal to the Nucleus
R-HSA-373760 L1CAM interactions
R-HSA-447043 Neurofascin interactions
SignaLinkiQ12860

Miscellaneous databases

ChiTaRSiCNTN1 human
EvolutionaryTraceiQ12860
GeneWikiiCNTN1
GenomeRNAii1272
PROiPR:Q12860
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000018236 Expressed in 178 organ(s), highest expression level in corpus callosum
CleanExiHS_CNTN1
ExpressionAtlasiQ12860 baseline and differential
GenevisibleiQ12860 HS

Family and domain databases

CDDicd00063 FN3, 4 hits
Gene3Di2.60.40.10, 10 hits
InterProiView protein in InterPro
IPR036992 Contactin-1
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PANTHERiPTHR43905:SF2 PTHR43905:SF2, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS50835 IG_LIKE, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCNTN1_HUMAN
AccessioniPrimary (citable) accession number: Q12860
Secondary accession number(s): A8K0H9
, A8K0Y3, Q12861, Q14030, Q7M4P0, Q8N466
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: October 10, 2018
This is version 177 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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