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Entry version 168 (12 Aug 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Twinkle protein, mitochondrial

Gene

TWNK

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

Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi415 – 422ATPPROSITE-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 functionHelicase, Hydrolase
Biological processDNA replication
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.6.4.12, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q96RR1

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Twinkle protein, mitochondrialCurated (EC:3.6.4.12)
Alternative name(s):
Progressive external ophthalmoplegia 1 protein
T7 gp4-like protein with intramitochondrial nucleoid localization
T7-like mitochondrial DNA helicase
Twinkle mtDNA helicaseImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TWNKImported
Synonyms:C10orf2, PEO1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000107815.7

Human Gene Nomenclature Database

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HGNCi
HGNC:1160, TWNK

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606075, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q96RR1

<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

Mitochondrion, Mitochondrion nucleoid

<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

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
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_065102303R → Q in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs137852956EnsemblClinVar.1
Natural variantiVAR_023647303R → W in PEOA3; also detected in a case showing digenic inheritance. 4 PublicationsCorresponds to variant dbSNP:rs1159929268Ensembl.1
Natural variantiVAR_023648315W → L in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033575EnsemblClinVar.1
Natural variantiVAR_065103315W → S in PEOA3. 1 Publication1
Natural variantiVAR_023649319K → E in PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis. 1 PublicationCorresponds to variant dbSNP:rs80356543EnsemblClinVar.1
Natural variantiVAR_023650319K → T in PEOA3. 1 Publication1
Natural variantiVAR_065105334R → P in PEOA3. 1 Publication1
Natural variantiVAR_023652335P → L in PEOA3. 1 Publication1
Natural variantiVAR_023653354R → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033576EnsemblClinVar.1
Natural variantiVAR_065106357R → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs758026634EnsemblClinVar.1
Natural variantiVAR_023654359A → T in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033573EnsemblClinVar.1
Natural variantiVAR_065108362A → P in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs1554887075EnsemblClinVar.1
Natural variantiVAR_065109363W → L in PEOA3. 1 Publication1
Natural variantiVAR_023655367I → T in PEOA3. 1 Publication1
Natural variantiVAR_023657369S → P in PEOA3. 1 Publication1
Natural variantiVAR_023658369S → Y in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033579EnsemblClinVar.1
Natural variantiVAR_065110370F → C in PEOA3. 1 Publication1
Natural variantiVAR_065111370F → L in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs863223920EnsemblClinVar.1
Natural variantiVAR_023659374R → Q in PEOA3. 4 PublicationsCorresponds to variant dbSNP:rs1554887097EnsemblClinVar.1
Natural variantiVAR_023660381L → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033577EnsemblClinVar.1
Natural variantiVAR_065112426S → N in PEOA3. 1 Publication1
Natural variantiVAR_065113458Q → H in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs1554887213EnsemblClinVar.1
Natural variantiVAR_065114460A → P in PEOA3. 1 Publication1
Natural variantiVAR_023661474W → C in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033574Ensembl.1
Natural variantiVAR_065115474W → S in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs11542127Ensembl.1
Natural variantiVAR_065116475A → D in PEOA3. 1 Publication1
Natural variantiVAR_023662475A → P in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033572EnsemblClinVar.1
Natural variantiVAR_065117478F → I in PEOA3. 1 Publication1
Natural variantiVAR_065118479E → K in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs1085307937EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 7 (MTDPS7)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065104318A → T in MTDPS7. 1 PublicationCorresponds to variant dbSNP:rs80356542EnsemblClinVar.1
Natural variantiVAR_065107360L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_067722456L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 PublicationCorresponds to variant dbSNP:rs386834145EnsemblClinVar.1
Natural variantiVAR_039045457T → I in MTDPS7; affects helicase activity. 1 PublicationCorresponds to variant dbSNP:rs80356544EnsemblClinVar.1
Natural variantiVAR_043797508Y → C in MTDPS7. 2 PublicationsCorresponds to variant dbSNP:rs80356540EnsemblClinVar.1
Perrault syndrome 5 (PRLTS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072657391R → H in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs556445621EnsemblClinVar.1
Natural variantiVAR_072658441W → G in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs672601361EnsemblClinVar.1
Natural variantiVAR_072659507V → I in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs369588002EnsemblClinVar.1
Natural variantiVAR_072660585N → S in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs672601360EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Neurodegeneration, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

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DisGeNETi
56652

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

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GeneReviewsi
TWNK

MalaCards human disease database

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MalaCardsi
TWNK
MIMi271245, phenotype
609286, phenotype
616138, phenotype

Open Targets

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OpenTargetsi
ENSG00000107815

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

More...
Orphaneti
254892, Autosomal dominant progressive external ophthalmoplegia
1186, Infantile-onset spinocerebellar ataxia
363534, Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
2855, Perrault syndrome
70595, Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162377675

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96RR1, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TWNK

Domain mapping of disease mutations (DMDM)

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DMDMi
74752111

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 31MitochondrionSequence analysisAdd BLAST31
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004264032 – 684Twinkle protein, mitochondrialAdd BLAST653

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96RR1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96RR1

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96RR1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96RR1

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

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PaxDbi
Q96RR1

PeptideAtlas

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PeptideAtlasi
Q96RR1

PRoteomics IDEntifications database

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PRIDEi
Q96RR1

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78006 [Q96RR1-1]
78007 [Q96RR1-2]
78008 [Q96RR1-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96RR1

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

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PhosphoSitePlusi
Q96RR1

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

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

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107815, Expressed in testis and 173 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96RR1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96RR1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000107815, Low tissue specificity

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms multimers in vitro, including hexamers.

Interacts with LONP1 (PubMed:14739292).

Interacts with POLG in vitro (PubMed:15167897).

2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
121166, 40 interactors

Protein interaction database and analysis system

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IntActi
Q96RR1, 37 interactors

Molecular INTeraction database

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MINTi
Q96RR1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000309595

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q96RR1, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

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

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SMRi
Q96RR1

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%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini384 – 635SF4 helicasePROSITE-ProRule annotationAdd BLAST252

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2373, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000004495

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_012336_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96RR1

KEGG Orthology (KO)

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KOi
K17680

Identification of Orthologs from Complete Genome Data

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OMAi
YRKEALP

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96RR1

TreeFam database of animal gene trees

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TreeFami
TF105994

Family and domain databases

Conserved Domains Database

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CDDi
cd01029, TOPRIM_primases, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007694, DNA_helicase_DnaB-like_C
IPR027417, P-loop_NTPase
IPR034154, TOPRIM_DnaG/twinkle

Superfamily database of structural and functional annotation

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SUPFAMi
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51199, SF4_HELICASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q96RR1-1) [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
MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM
60 70 80 90 100
PVLPVTATEI RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF
110 120 130 140 150
SLFIDKTTGH FLCMTSLAEG SWEDFQASVE GRGDGAREGF LLSKAPEFED
160 170 180 190 200
SEEVRRIWNR AIPLWELPDQ EEVQLADTMF GLTKVTDDTL KRFSVRYLRP
210 220 230 240 250
ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR PSAYHNLFGL
260 270 280 290 300
PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
310 320 330 340 350
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF
360 370 380 390 400
NLSRILRTAL PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR
410 420 430 440 450
ILKGHRKGEL TVFTGPTGSG KTTFISEYAL DLCSQGVNTL WGSFEISNVR
460 470 480 490 500
LARVMLTQFA EGRLEDQLDK YDHWADRFED LPLYFMTFHG QQSIRTVIDT
510 520 530 540 550
MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG VFRKFATDNN
560 570 580 590 600
CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK
610 620 630 640 650
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK
660 670 680
KPSSGKKGAT TQNSEICSGQ APTPDQPDTS KRSK
Length:684
Mass (Da):77,154
Last modified:December 1, 2001 - 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:i58186043888234DA
GO
Isoform 2 (identifier: Q96RR1-2) [UniParc]FASTAAdd to basket
Also known as: Twinky

The sequence of this isoform differs from the canonical sequence as follows:
     579-582: ASQE → VSGL
     583-684: Missing.

Show »
Length:582
Mass (Da):66,016
Checksum:i8A6A46BDCD5B8C3F
GO
Isoform 3 (identifier: Q96RR1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     532-684: Missing.

Show »
Length:531
Mass (Da):60,400
Checksum:iB7B4246EC5B6502A
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y4V4A0A2R8Y4V4_HUMAN
Twinkle protein, mitochondrial
TWNK
230Annotation 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>
A0A2R8Y746A0A2R8Y746_HUMAN
Twinkle protein, mitochondrial
TWNK
128Annotation 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>
A0A2R8Y8D3A0A2R8Y8D3_HUMAN
Twinkle protein, mitochondrial
TWNK
40Annotation 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>
A0A3B3IT76A0A3B3IT76_HUMAN
Twinkle protein, mitochondrial
TWNK
96Annotation 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>
A0A2R8YF85A0A2R8YF85_HUMAN
Twinkle protein, mitochondrial
TWNK
24Annotation 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>

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 conflicti351N → D in CAE45905 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065102303R → Q in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs137852956EnsemblClinVar.1
Natural variantiVAR_023647303R → W in PEOA3; also detected in a case showing digenic inheritance. 4 PublicationsCorresponds to variant dbSNP:rs1159929268Ensembl.1
Natural variantiVAR_023648315W → L in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033575EnsemblClinVar.1
Natural variantiVAR_065103315W → S in PEOA3. 1 Publication1
Natural variantiVAR_065104318A → T in MTDPS7. 1 PublicationCorresponds to variant dbSNP:rs80356542EnsemblClinVar.1
Natural variantiVAR_023649319K → E in PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis. 1 PublicationCorresponds to variant dbSNP:rs80356543EnsemblClinVar.1
Natural variantiVAR_023650319K → T in PEOA3. 1 Publication1
Natural variantiVAR_065105334R → P in PEOA3. 1 Publication1
Natural variantiVAR_023651334R → Q in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance. 3 PublicationsCorresponds to variant dbSNP:rs28937887EnsemblClinVar.1
Natural variantiVAR_023652335P → L in PEOA3. 1 Publication1
Natural variantiVAR_062268348G → R1 PublicationCorresponds to variant dbSNP:rs62626271EnsemblClinVar.1
Natural variantiVAR_023653354R → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033576EnsemblClinVar.1
Natural variantiVAR_065106357R → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs758026634EnsemblClinVar.1
Natural variantiVAR_023654359A → T in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033573EnsemblClinVar.1
Natural variantiVAR_065107360L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_065108362A → P in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs1554887075EnsemblClinVar.1
Natural variantiVAR_065109363W → L in PEOA3. 1 Publication1
Natural variantiVAR_023655367I → T in PEOA3. 1 Publication1
Natural variantiVAR_023656368V → I4 PublicationsCorresponds to variant dbSNP:rs17113613EnsemblClinVar.1
Natural variantiVAR_023657369S → P in PEOA3. 1 Publication1
Natural variantiVAR_023658369S → Y in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033579EnsemblClinVar.1
Natural variantiVAR_065110370F → C in PEOA3. 1 Publication1
Natural variantiVAR_065111370F → L in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs863223920EnsemblClinVar.1
Natural variantiVAR_023659374R → Q in PEOA3. 4 PublicationsCorresponds to variant dbSNP:rs1554887097EnsemblClinVar.1
Natural variantiVAR_023660381L → P in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs111033577EnsemblClinVar.1
Natural variantiVAR_072657391R → H in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs556445621EnsemblClinVar.1
Natural variantiVAR_065112426S → N in PEOA3. 1 Publication1
Natural variantiVAR_051267427E → G. Corresponds to variant dbSNP:rs11542126Ensembl.1
Natural variantiVAR_072658441W → G in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs672601361EnsemblClinVar.1
Natural variantiVAR_067722456L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 PublicationCorresponds to variant dbSNP:rs386834145EnsemblClinVar.1
Natural variantiVAR_039045457T → I in MTDPS7; affects helicase activity. 1 PublicationCorresponds to variant dbSNP:rs80356544EnsemblClinVar.1
Natural variantiVAR_065113458Q → H in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs1554887213EnsemblClinVar.1
Natural variantiVAR_065114460A → P in PEOA3. 1 Publication1
Natural variantiVAR_023661474W → C in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033574Ensembl.1
Natural variantiVAR_065115474W → S in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs11542127Ensembl.1
Natural variantiVAR_065116475A → D in PEOA3. 1 Publication1
Natural variantiVAR_023662475A → P in PEOA3. 1 PublicationCorresponds to variant dbSNP:rs111033572EnsemblClinVar.1
Natural variantiVAR_065117478F → I in PEOA3. 1 Publication1
Natural variantiVAR_065118479E → K in PEOA3. 2 PublicationsCorresponds to variant dbSNP:rs1085307937EnsemblClinVar.1
Natural variantiVAR_072659507V → I in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs369588002EnsemblClinVar.1
Natural variantiVAR_043797508Y → C in MTDPS7. 2 PublicationsCorresponds to variant dbSNP:rs80356540EnsemblClinVar.1
Natural variantiVAR_072660585N → S in PRLTS5. 1 PublicationCorresponds to variant dbSNP:rs672601360EnsemblClinVar.1
Natural variantiVAR_062269634N → K1 PublicationCorresponds to variant dbSNP:rs62626293Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_015959532 – 684Missing in isoform 3. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_015960579 – 582ASQE → VSGL in isoform 2. 2 Publications4
Alternative sequenceiVSP_015961583 – 684Missing in isoform 2. 2 PublicationsAdd BLAST102

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
AF292004 mRNA Translation: AAK69558.1
AF292005 mRNA Translation: AAK69559.1
BX640829 mRNA Translation: CAE45905.1
AL133215 Genomic DNA No translation available.
EU543650 Genomic DNA Translation: ACB21043.1
CH471066 Genomic DNA Translation: EAW49794.1
BC013349 mRNA Translation: AAH13349.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53570.1 [Q96RR1-2]
CCDS7506.1 [Q96RR1-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001157284.1, NM_001163812.1 [Q96RR1-2]
NP_068602.2, NM_021830.4 [Q96RR1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000311916; ENSP00000309595; ENSG00000107815 [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815 [Q96RR1-2]
ENST00000643860; ENSP00000494389; ENSG00000107815 [Q96RR1-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
56652

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:56652

UCSC genome browser

More...
UCSCi
uc001ksf.3, human [Q96RR1-1]

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

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

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF292004 mRNA Translation: AAK69558.1
AF292005 mRNA Translation: AAK69559.1
BX640829 mRNA Translation: CAE45905.1
AL133215 Genomic DNA No translation available.
EU543650 Genomic DNA Translation: ACB21043.1
CH471066 Genomic DNA Translation: EAW49794.1
BC013349 mRNA Translation: AAH13349.1
CCDSiCCDS53570.1 [Q96RR1-2]
CCDS7506.1 [Q96RR1-1]
RefSeqiNP_001157284.1, NM_001163812.1 [Q96RR1-2]
NP_068602.2, NM_021830.4 [Q96RR1-1]

3D structure databases

SMRiQ96RR1
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi121166, 40 interactors
IntActiQ96RR1, 37 interactors
MINTiQ96RR1
STRINGi9606.ENSP00000309595

PTM databases

iPTMnetiQ96RR1
PhosphoSitePlusiQ96RR1

Polymorphism and mutation databases

BioMutaiTWNK
DMDMi74752111

Proteomic databases

EPDiQ96RR1
jPOSTiQ96RR1
MassIVEiQ96RR1
MaxQBiQ96RR1
PaxDbiQ96RR1
PeptideAtlasiQ96RR1
PRIDEiQ96RR1
ProteomicsDBi78006 [Q96RR1-1]
78007 [Q96RR1-2]
78008 [Q96RR1-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
1261, 213 antibodies

Genome annotation databases

EnsembliENST00000311916; ENSP00000309595; ENSG00000107815 [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815 [Q96RR1-2]
ENST00000643860; ENSP00000494389; ENSG00000107815 [Q96RR1-3]
GeneIDi56652
KEGGihsa:56652
UCSCiuc001ksf.3, human [Q96RR1-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
56652
DisGeNETi56652
EuPathDBiHostDB:ENSG00000107815.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TWNK
GeneReviewsiTWNK
HGNCiHGNC:1160, TWNK
HPAiENSG00000107815, Low tissue specificity
MalaCardsiTWNK
MIMi271245, phenotype
606075, gene
609286, phenotype
616138, phenotype
neXtProtiNX_Q96RR1
OpenTargetsiENSG00000107815
Orphaneti254892, Autosomal dominant progressive external ophthalmoplegia
1186, Infantile-onset spinocerebellar ataxia
363534, Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
2855, Perrault syndrome
70595, Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
PharmGKBiPA162377675

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2373, Eukaryota
GeneTreeiENSGT00390000004495
HOGENOMiCLU_012336_1_0_1
InParanoidiQ96RR1
KOiK17680
OMAiYRKEALP
PhylomeDBiQ96RR1
TreeFamiTF105994

Enzyme and pathway databases

BRENDAi3.6.4.12, 2681
PathwayCommonsiQ96RR1
ReactomeiR-HSA-2151201, Transcriptional activation of mitochondrial biogenesis

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
56652, 307 hits in 880 CRISPR screens

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

More...
ChiTaRSi
TWNK, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PEO1

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

More...
GenomeRNAii
56652
PharosiQ96RR1, Tbio

Protein Ontology

More...
PROi
PR:Q96RR1
RNActiQ96RR1, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107815, Expressed in testis and 173 other tissues
ExpressionAtlasiQ96RR1, baseline and differential
GenevisibleiQ96RR1, HS

Family and domain databases

CDDicd01029, TOPRIM_primases, 1 hit
InterProiView protein in InterPro
IPR007694, DNA_helicase_DnaB-like_C
IPR027417, P-loop_NTPase
IPR034154, TOPRIM_DnaG/twinkle
SUPFAMiSSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS51199, SF4_HELICASE, 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 nameiPEO1_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: Q96RR1
Secondary accession number(s): B2CQL2
, Q6MZX2, Q6PJP5, Q96RR0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: December 1, 2001
Last modified: August 12, 2020
This is version 168 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

Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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