{ "uniprot_canonical_ac": "A6NC51-1", "sequence": { "header": "sp|A6NC51-1|T150B_HUMAN Isoform 1 of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 233, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFGLLAVDFSALESCTLCVQPWPSLSPPPASPISLPVQL" }, "uniprot_id": "T150B_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "modulator of macroautophagy TMEM150B isoform a", "transmembrane protein 224; transmembrane protein LOC284417; hCG1651476; tentonin 2; protein DRAM-3; DRAM-Related/Associated Member 3; modulator of macroautophagy TMEM150B" ], "uniprotkb": [ "Modulator of macroautophagy TMEM150B", "Protein DRAM-3", "Transmembrane protein 224", "Transmembrane protein 150B" ] }, "gene": { "refseq": [ "TMEM150B", "DRAM3", "TMEM224", "TTN2" ], "uniprotkb": [ "TMEM150B", "TMEM224", "DRAM3", "TTN2" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Modulator of macroautophagy TMEM150B; Protein DRAM-3; Transmembrane protein 224; Transmembrane protein 150B." }, "publication": [ { "title": "Human gingiva transcriptome during wound healing.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28005267", "journal": "Journal of clinical periodontology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Wang Y, Tatakis DN", "date": "2017", "pmid": "28005267" }, { "title": "Tentonin 3/TMEM150c Confers Distinct Mechanosensitive Currents in Dorsal-Root Ganglion Neurons with Proprioceptive Function.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27321926", "journal": "Neuron", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Hong GS, Lee B, Wee J, Chun H, Kim H, Jung J, Cha JY, Riew TR, Kim GH, Kim IB, Oh U", "date": "2016", "pmid": "27321926" }, { "title": "Another DRAM involved in autophagy and cell death.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27046253", "journal": "Autophagy", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Mrschtik M, Ryan KM", "date": "2016", "pmid": "27046253" }, { "title": "Plasticity of PI4KIIIalpha interactions at the plasma membrane.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25608530", "journal": "EMBO reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A6NC51/publications", "id": "A6NC51", "database": "UniProtKB" } ], "authors": "Chung J, Nakatsu F, Baskin JM, De Camilli P", "date": "2015", "pmid": "25608530" }, { "title": "DRAM-3 modulates autophagy and promotes cell survival in the absence of glucose.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25929859", "journal": "Cell death and differentiation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A6NC51/publications", "id": "A6NC51", "database": "UniProtKB" } ], "authors": "Mrschtik M, O'Prey J, Lao LY, Long JS, Beaumatin F, Strachan D, O'Prey M, Skommer J, Ryan KM", "date": "2015", "pmid": "25929859" }, { "title": "A genome-wide association study of early menopause and the combined impact of identified variants.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23307926", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Perry JR, Corre T, Esko T, Chasman DI, Fischer K, Franceschini N, He C, Kutalik Z, Mangino M, Rose LM, Vernon Smith A, Stolk L, Sulem P, Weedon MN, Zhuang WV, Arnold A, Ashworth A, Bergmann S, Buring JE, Burri A, Chen C, Cornelis MC, Couper DJ, Goodarzi MO, Gudnason V, Harris T, Hofman A, Jones M, Kraft P, Launer L, Laven JS, Li G, McKnight B, Masciullo C, Milani L, Orr N, Psaty BM, Ridker PM, Rivadeneira F, Sala C, Salumets A, Schoemaker M, Traglia M, Waeber G, Chanock SJ, Demerath EW, Garcia M, Hankinson SE, Hu FB, Hunter DJ, Lunetta KL, Metspalu A, Montgomery GW, Murabito JM, Newman AB, Ong KK, Spector TD, Stefansson K, Swerdlow AJ, Thorsteinsdottir U, Van Dam RM, Uitterlinden AG, Visser JA, Vollenweider P, Toniolo D, Murray A", "date": "2013", "pmid": "23307926" }, { "title": "Loci at chromosomes 13, 19 and 20 influence age at natural menopause.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19448619", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ], "authors": "Stolk L, Zhai G, van Meurs JB, Verbiest MM, Visser JA, Estrada K, Rivadeneira F, Williams FM, Cherkas L, Deloukas P, Soranzo N, de Keyzer JJ, Pop VJ, Lips P, Lebrun CE, van der Schouw YT, Grobbee DE, Witteman J, Hofman A, Pols HA, Laven JS, Spector TD, Uitterlinden AG", "date": "2009", "pmid": "19448619" } ], "glycosylation": [ { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 30, "glytoucan_ac": "", "type": "N-linked" } ], "mutation": [ { "start_pos": 184, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "C", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 184, "type": "Point mutation" }, { "start_pos": 23, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%). In dbSNP: rs199745150.", "sequence_org": "V", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "I", "subjects_tested": "93", "end_pos": 23, "type": "Point mutation" }, { "start_pos": 53, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "C", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Y", "subjects_tested": "50", "end_pos": 53, "type": "Point mutation" }, { "start_pos": 199, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NC51", "id": "A6NC51", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "F", "subjects_tested": "50", "end_pos": 199, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#A6NC51-1", "isoform_ac": "A6NC51-1", "locus": { "end_pos": 55312862, "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000326652", "id": "ENST00000326652", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000320757", "id": "ENSP00000320757", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6NC51-1|T150B_HUMAN Isoform 1 of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 233, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFGLLAVDFSALESCTLCVQPWPSLSPPPASPISLPVQL" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EKL2-1", "isoform_ac": "K7EKL2-1", "locus": { "end_pos": 55312970, "start_pos": 55320451, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000585918", "id": "ENST00000585918", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465672", "id": "ENSP00000465672", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EKL2-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=2 CANONICAL=A6NC51-1", "length": 152, "sequence": "GSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQLLLWRLKRLPQPGAAWIGPLRLGLCSVCTILIVAMIVLHACSLRSVSAACEWVVAMLLFALFG" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EKW5-1", "isoform_ac": "K7EKW5-1", "locus": { "end_pos": 55316911, "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000592731", "id": "ENST00000592731", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000465815", "id": "ENSP00000465815", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EKW5-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 84, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALGKEPAAYALGRGLPCLHLG" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7EM00-1", "isoform_ac": "K7EM00-1", "locus": { "end_pos": 55316889, "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000591570", "id": "ENST00000591570", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000466297", "id": "ENSP00000466297", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EM00-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 134, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISICGSFPPQSCIFSQVLNMGAALAAWICIVRYHQLRDWGVRRWPNQLILWTGLLCALGTSVVGNFQEKNQRPTHLAGAFLAFILGNVYFWLQ" } }, { "url": "https://www.uniprot.org/uniprot/A6NC51#K7ENI3-1", "isoform_ac": "K7ENI3-1", "locus": { "end_pos": 55320106, "start_pos": 55321036, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000586609", "id": "ENST00000586609", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000466957", "id": "ENSP00000466957", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7ENI3-1|T150B_HUMAN Computationally mapped isoform of Modulator of macroautophagy TMEM150B OS=Homo sapiens OX=9606 GN=TMEM150B PE=2 SV=1 CANONICAL=A6NC51-1", "length": 63, "sequence": "MWGYLSLMPVFLAVWAISGVWIVFAIAVTNRTVDLSKGFPYISRVDLHCPLPPAPGLGRQKVA" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:284417", "resource": "KEGG Pathway", "id": "hsa:284417", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#function", "annotation": "Modulator of macroautophagy that causes accumulation of autophagosomes under basal conditions and enhances autophagic flux (PubMed:25929859). Represses cell death and promotes long-term clonogenic survival of cells grown in the absence of glucose in a macroautophagy-independent manner (PubMed:25929859). May have some role in extracellular matrix engulfment or growth factor receptor recycling, both of which can modulate cell survival (PubMed:25929859).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51#function", "id": "A6NC51", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "annotation": "TMEM150B expression is significantly upregulated in human masticatory mucosa during wound healing", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "annotation": "TMEM150B, renamed as DRAM-3, is a modulator of both macroautophagy and cell survival under starvation conditions. Erratum:[Cell Death Differ. 2017 Jun 30;(8):1470. PMID: 28665403]", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZEH7-1", "protein_name": "Transmembrane protein 150B; Similar to A630041N19 protein (Predicted).", "sequence": { "length": 238, "sequence": "MWNYLSLLPVILALWAIAGIWIVFAIAVVNGSVDLEKGFPFISNCGSYAPQSCIFGQILNTGAALAVWICIVRYHQLRDWGVKTWQNQLILWSGILCAVGTSIVGNFQEKNQKPTHLAGAFLAFILGNLYFWLQFFLSWWMKGLPQPGPHWIRLLRLSLCSLSTILIVTMIVLHSLHMRSASAICEWTVAMLLFVLFGFFAVDFSSFRGCTLHLQPHLDSSLQQAPSGSPNIQMAMVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC51/", "id": "A6NC51", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19603", "id": "19603", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q8R218-1", "protein_name": "Modulator of macroautophagy TMEM150B; Transmembrane protein 150B.", "sequence": { "length": 238, "sequence": "MWNYLSLLPVILFLWAIAGIWIVFAIAVVNGSVDLNEGFPFISICGSYAPQSCIFGQVLNIGAALTVWICIVRHHQLRDWGVKTWQNQLILWSGILCALGTSIVGNFQDKNQKPTHLAGAFLAFILGNLYFWLQFFLSWWVKGLPQPGPHWIKSLRLSLCSLSTILIVAMIVLHALHMRSASAICEWVVAMLLFMLFGFFAVDFSILRGCTLHLHPRLDSSLPQAPSGSPNIQMAQVL" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A6NC51/", "id": "A6NC51", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19603", "id": "19603", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "ac": "NP_001078957.1", "name": "modulator of macroautophagy TMEM150B isoform a; transmembrane protein 224; transmembrane protein LOC284417; hCG1651476; tentonin 2; protein DRAM-3; DRAM-Related/Associated Member 3; modulator of macroautophagy TMEM150B.", "summary": "This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "lysosome", "id": "GO:0005764" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "autophagosome membrane", "id": "GO:0000421" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "endosome membrane", "id": "GO:0010008" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "regulation of autophagy", "id": "GO:0010506" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6NC51", "id": "A6NC51", "database": "UniProtKB" } ], "name": "autophagy", "id": "GO:0006914" } ], "total": 2, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 32, "annotation": "n_glycosylation_sequon", "start_pos": 30 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078957.1", "id": "NP_001078957.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=34415", "id": "34415", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A6NC51", "id": "A6NC51", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A6NC51", "id": "NX_A6NC51", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMEM150B", "id": "TMEM150B", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:284417", "id": "hsa:284417", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000180061", "id": "ENSG00000180061", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/VVGNFQQ/", "id": "VVGNFQQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019402", "id": "IPR019402", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF10277", "id": "PF10277", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A6NC51", "id": "PR_A6NC51", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/284417", "id": "284417", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "3910", "url": 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"http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NC51", "id": "A6NC51", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": 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