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] } } ], "crossref": [ { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TPRX2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TPRX2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "32175", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=32175", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017970", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "620360", "url": "http://www.omim.org/entry/620360", "database": "MIM", "categories": [ "Other" ] }, { "id": "PTHR45793", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45793", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45793:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45793:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45793:SF21", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45793:SF21", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "http://pfam.xfam.org/family/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DV77", "url": "http://purl.obolibrary.org/obo/PR_P0DV77", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "A0A8V8TNP4", "url": "https://www.uniprot.org/uniprot/A0A8V8TNP4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TNP4-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TNP4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPE6", "url": "https://www.uniprot.org/uniprot/A0A8V8TPE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8V8TPE6-1", "url": "https://www.uniprot.org/uniprot/A0A8V8TPE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DV77", "url": "https://www.uniprot.org/uniprot/P0DV77", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DV77-1", "url": "https://www.uniprot.org/uniprot/P0DV77-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQDPGHLQGPPLALDPPRRQRQERTVYTESQQKVLEFYFQKDQYPNYDQRLNLAEMLSLREQQLQVWFKNRRAKLARERRLQQQPQRVPGQRGRGARAAPLVPVAAASFPGGPEFPQGRGSWISPQPGPWGVLPAAEPKIYSLPRTWGGPECGTQEGLKAVPAPGPGPIPAPIPGPAQIPGPVPGPAPNLGPMSGPLSVSIPGPIPAPISCPGPIPDPVLGRTLMPGPGSLPTPAPGALWPQSPYASNLSPDTQLYPDFTKLLPLLDRFEESSLSTTTSQYKEEDGFVDKNHSVPRSLLDL", "length": 301, "header": "sp|P0DV77-1|TPRX2_HUMAN Isoform 1 of Tetrapeptide repeat homeobox protein 2 OS=Homo sapiens OX=9606 GN=TPRX2 PE=2 SV=1 CANONICAL=P0DV77-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TNP4-1", "url": "", "sequence": { "sequence": "MQDPGHLQGPPLALDPPRRQRQERTVYTESQQKVLEFYFQKDQYPNYDQRLNLAEMLSLREQQLQTGSRNPHSPPRRLSTKRRMASWTKITQSPGHYWIYRGPVPAKFFRSQRAWSG", "length": 117, "header": "tr|A0A8V8TNP4-1|A0A8V8TNP4_HUMAN Computationally mapped isoform of Tetrapeptide repeat homeobox 2 OS=Homo sapiens OX=9606 GN=TPRX2 PE=4 SV=1 CANONICAL=P0DV77-1" }, "locus": { "chromosome": "19", "start_pos": 47861561, "end_pos": 47859247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699383.1", "url": "https://www.ensembl.org/id/ENST00000699383.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514348.1", "url": "https://www.ensembl.org/id/ENSP00000514348.1" } ] } }, { "isoform_ac": "A0A8V8TPE6-1", "url": "", "sequence": { "sequence": "MQDPGHLQEGPVPELRPATESGGDAQPQGATAAGVVQESPRQTSSGAAAPAAAPARPWAERPRSPRCAPSPCSRCLLPWGS", "length": 81, "header": "tr|A0A8V8TPE6-1|A0A8V8TPE6_HUMAN Computationally mapped isoform of Tetrapeptide repeat homeobox 2 OS=Homo sapiens OX=9606 GN=TPRX2 PE=4 SV=1 CANONICAL=P0DV77-1" }, "locus": { "chromosome": "19", "start_pos": 47860944, "end_pos": 47859247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000699059.1", "url": "https://www.ensembl.org/id/ENST00000699059.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000514105.1", "url": "https://www.ensembl.org/id/ENSP00000514105.1" } ] } }, { "isoform_ac": "P0DV77-1", "url": "", "sequence": { "sequence": "MQDPGHLQGPPLALDPPRRQRQERTVYTESQQKVLEFYFQKDQYPNYDQRLNLAEMLSLREQQLQVWFKNRRAKLARERRLQQQPQRVPGQRGRGARAAPLVPVAAASFPGGPEFPQGRGSWISPQPGPWGVLPAAEPKIYSLPRTWGGPECGTQEGLKAVPAPGPGPIPAPIPGPAQIPGPVPGPAPNLGPMSGPLSVSIPGPIPAPISCPGPIPDPVLGRTLMPGPGSLPTPAPGALWPQSPYASNLSPDTQLYPDFTKLLPLLDRFEESSLSTTTSQYKEEDGFVDKNHSVPRSLLDL", "length": 301, "header": "sp|P0DV77-1|TPRX2_HUMAN Isoform 1 of Tetrapeptide repeat homeobox protein 2 OS=Homo sapiens OX=9606 GN=TPRX2 PE=2 SV=1 CANONICAL=P0DV77-1" }, "locus": { "chromosome": "19", "start_pos": 47861509, "end_pos": 47859247, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535362.3", "url": "https://www.ensembl.org/id/ENST00000535362.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000514106.1", "url": "https://www.ensembl.org/id/ENSP00000514106.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.", "journal": "Developmental cell", "date": "2012-01-17", "authors": "Geng Linda N, Yao Zizhen, Snider Lauren, Fong Abraham P, Cech Jennifer N, Young Janet M, van der Maarel Silvere M, Ruzzo Walter L, Gentleman Robert C, Tawil Rabi, Tapscott Stephen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "22209328", "url": "https://glygen.org/publication/PubMed/22209328" } ] }, { "title": "Single-cell RNA-Seq profiling of human preimplantation embryos and embryonic stem cells.", "journal": "Nature structural & molecular biology", "date": "2013-09", "authors": "Yan Liying, Yang Mingyu, Guo Hongshan, Yang Lu, Wu Jun, Li Rong, Liu Ping, Lian Ying, Zheng Xiaoying, Yan Jie, Huang Jin, Li Ming, Wu Xinglong, Wen Lu, Lao Kaiqin, Li Ruiqiang, Qiao Jie, Tang Fuchou", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "23934149", "url": "https://glygen.org/publication/PubMed/23934149" } ] }, { "title": "DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis.", "journal": "PLoS genetics", "date": "2013-11", "authors": "Young Janet M, Whiddon Jennifer L, Yao Zizhen, Kasinathan Bhavatharini, Snider Lauren, Geng Linda N, Balog Judit, Tawil Rabi, van der Maarel Silv\u00e8re M, Tapscott Stephen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "24278031", "url": "https://glygen.org/publication/PubMed/24278031" } ] }, { "title": "Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development.", "journal": "Nature communications", "date": "2015-09-11", "authors": "T\u00f6h\u00f6nen Virpi, Katayama Shintaro, Vesterlund Liselotte, Jouhilahti Eeva-Mari, Sheikhi Mona, Madissoon Elo, Filippini-Cattaneo Giuditta, Jaconi Marisa, Johnsson Anna, B\u00fcrglin Thomas R, Linnarsson Sten, Hovatta Outi, Kere Juha", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26360614", "url": "https://glygen.org/publication/PubMed/26360614" } ] }, { "title": "DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.", "journal": "Nucleic acids research", "date": "2016", "authors": "Choi SH, Gearhart MD, Cui Z, Bosnakovski D, Kim M, Schennum N, Kyba M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "26951377", "url": "https://glygen.org/publication/PubMed/26951377" } ] }, { "title": "Single-Cell RNA-Seq Reveals Lineage and X Chromosome Dynamics in Human Preimplantation Embryos.", "journal": "Cell", "date": "2016-05-05", "authors": "Petropoulos Sophie, Edsg\u00e4rd Daniel, Reinius Bj\u00f6rn, Deng Qiaolin, Panula Sarita Pauliina, Codeluppi Simone, Plaza Reyes Alvaro, Linnarsson Sten, Sandberg Rickard, Lanner Fredrik", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "27062923", "url": "https://glygen.org/publication/PubMed/27062923" } ] }, { "title": "Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos.", "journal": "Scientific reports", "date": "2016-07-14", "authors": "Madissoon Elo, Jouhilahti Eeva-Mari, Vesterlund Liselotte, T\u00f6h\u00f6nen Virpi, Krjut\u0161kov Kaarel, Petropoulos Sophie, Einarsdottir Elisabet, Linnarsson Sten, Lanner Fredrik, M\u00e5nsson Robert, Hovatta Outi, B\u00fcrglin Thomas R, Katayama Shintaro, Kere Juha", "evidence": [ { "database": "UniProtKB", "id": "P0DV77", "url": "https://www.uniprot.org/uniprot/P0DV77" } ], "reference": [ { "type": "PubMed", "id": "27412763", "url": "https://glygen.org/publication/PubMed/27412763" } ] }, { "title": "DUX-family transcription factors regulate zygotic genome activation in placental mammals.", "journal": "Nature genetics", "date": "2017-06", "authors": "De Iaco Alberto, Planet Evarist, Coluccio Andrea, Verp Sonia, Duc Julien, Trono Didier", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "28459456", "url": "https://glygen.org/publication/PubMed/28459456" } ] }, { "title": "Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons.", "journal": "Nature genetics", "date": "2017-06", "authors": "Hendrickson Peter G, Dor\u00e1is Jessie A, Grow Edward J, Whiddon Jennifer L, Lim Jong-Won, Wike Candice L, Weaver Bradley D, Pflueger Christian, Emery Benjamin R, Wilcox Aaron L, Nix David A, Peterson C Matthew, Tapscott Stephen J, Carrell Douglas T, Cairns Bradley R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "28459457", "url": "https://glygen.org/publication/PubMed/28459457" } ] }, { "title": "DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double-stranded RNA foci in human cell models of FSHD.", "journal": "Human molecular genetics", "date": "2019-12-01", "authors": "Shadle Sean C, Bennett Sean R, Wong Chao-Jen, Karreman Nancy A, Campbell Amy E, van der Maarel Silv\u00e8re M, Bass Brenda L, Tapscott Stephen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "31630170", "url": "https://glygen.org/publication/PubMed/31630170" } ] }, { "title": "p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models.", "journal": "Nature genetics", "date": "2021-08", "authors": "Grow Edward J, Weaver Bradley D, Smith Christina M, Guo Jingtao, Stein Paula, Shadle Sean C, Hendrickson Peter G, Johnson Nicholas E, Butterfield Russell J, Menafra Roberta, Kloet Susan L, van der Maarel Silv\u00e8re M, Williams Carmen J, Cairns Bradley R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "34267371", "url": "https://glygen.org/publication/PubMed/34267371" } ] }, { "title": "DUX4 is a multifunctional factor priming human embryonic genome activation.", "journal": "iScience", "date": "2022-04-15", "authors": "Vuoristo Sanna, Bhagat Shruti, Hyd\u00e9n-Granskog Christel, Yoshihara Masahito, Gawriyski Lisa, Jouhilahti Eeva-Mari, Ranga Vipin, Tamirat Mahlet, Huhtala Mikko, Kirjanov Ida, Nyk\u00e4nen Sonja, Krjut\u0161kov Kaarel, Damdimopoulos Anastassius, Weltner Jere, Hashimoto Kosuke, Recher Ga\u00eblle, Ezer Sini, Paluoja Priit, Paloviita Pauliina, Takegami Yujiro, Kanemaru Ai, Lundin Karolina, Airenne Tomi T, Otonkoski Timo, Tapanainen Juha S, Kawaji Hideya, Murakawa Yasuhiro, B\u00fcrglin Thomas R, Varjosalo Markku, Johnson Mark S, Tuuri Timo, Katayama Shintaro, Kere Juha", "evidence": [ { "database": "Reactome", "id": "R-HSA-9819196", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9819196" } ], "reference": [ { "type": "PubMed", "id": "35402882", "url": "https://glygen.org/publication/PubMed/35402882" } ] }, { "title": "Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation.", "journal": "Science (New York, N.Y.)", "date": "2022-10-07", "authors": "Zou Zhuoning, Zhang Chuanxin, Wang Qiuyan, Hou Zhenzhen, 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