{ "uniprot_canonical_ac": "A4GXA9-1", "ptm_annotation": [], "sequence": { "header": "sp|A4GXA9-1|EME2_HUMAN Isoform 1 of Probable crossover junction endonuclease EME2 OS=Homo sapiens OX=9606 GN=EME2 PE=1 SV=3 CANONICAL=A4GXA9-1", "length": 379, "sequence": "MARVGPGRAGVSCQGRGRGRGGSGQRRPPTWEISDSDAEDSAGSEAAARARDPAGERRAAAEALRLLRPEQVLKRLAVCVDTAILEDAGADVLMEALEALGCECRIEPQRPARSLRWTRASPDPCPRSLPPEVWAAGEQELLLLLEPEEFLQGVATLTQISGPTHWVPWISPETTARPHLAVIGLDAYLWSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVLLQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLLDLGS" }, "uniprot_id": "EME2_HUMAN", "enzyme_annotation": [ { "ec": "3.1.22.-", "activity": "" } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4GXA9", "id": "A4GXA9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12721304", "type": [ "PubMed" ], "id": "12721304" } ], "title": "Identification and characterization of the human mus81-eme1 endonuclease.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Ciccia A, Constantinou A, West SC", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17289582", "type": [ "PubMed" ], "id": "17289582" } ], "title": "Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.", "journal": "Mol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4GXA9", "id": "A4GXA9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Wang W., Xue Y., West S.C., Ling C., Yan Z., Meetei A.R., Joenje H., de Winter J.P., McDonald N., Ciccia A., Coulthard R., Laghmani el H.", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24371268", "type": [ "PubMed" ], "id": "24371268" } ], "title": "Substrate specificity of the MUS81-EME2 structure selective endonuclease.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Pepe A, West SC", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24692662", "type": [ "PubMed" ], "id": "24692662" } ], "title": "Human MUS81-EME2 can cleave a variety of DNA structures including intact Holliday junction and nicked duplex.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Amangyeld T, Shin YK, Lee M, Kwon B, Seo YS", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24813886", "type": [ "PubMed" ], "id": "24813886" } ], "title": "MUS81-EME2 promotes replication fork restart.", "journal": "Cell reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Pepe A, West SC", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26804904", "type": [ "PubMed" ], "id": "26804904" } ], "title": "Signaling from Mus81-Eme2-Dependent DNA Damage Elicited by Chk1 Deficiency Modulates Replication Fork Speed and Origin Usage.", "journal": "Cell reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ], "authors": "Techer H, Koundrioukoff S, Carignon S, Wilhelm T, Millot GA, Lopez BS, Brison O, Debatisse M", "date": "2016" } ], "uniprot_ac": "A4GXA9", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4GXA9#A4GXA9-1", "isoform_ac": "A4GXA9-1", "locus": { "end_pos": 1773228, "strand": "-", "start_pos": 1776235, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000568449", "id": "ENST00000568449", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457353", "id": "ENSP00000457353", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4GXA9-1|EME2_HUMAN Isoform 1 of Probable crossover junction endonuclease EME2 OS=Homo sapiens OX=9606 GN=EME2 PE=1 SV=3 CANONICAL=A4GXA9-1", "length": 379, "sequence": "MARVGPGRAGVSCQGRGRGRGGSGQRRPPTWEISDSDAEDSAGSEAAARARDPAGERRAAAEALRLLRPEQVLKRLAVCVDTAILEDAGADVLMEALEALGCECRIEPQRPARSLRWTRASPDPCPRSLPPEVWAAGEQELLLLLEPEEFLQGVATLTQISGPTHWVPWISPETTARPHLAVIGLDAYLWSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVLLQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLLDLGS" } }, { "url": "https://www.uniprot.org/uniprot/A4GXA9#A4GXA9-2", "isoform_ac": "A4GXA9-2", "locus": {}, "sequence": { "header": "sp|A4GXA9-2|EME2_HUMAN Isoform 2 of Probable crossover junction endonuclease EME2 OS=Homo sapiens OX=9606 GN=EME2 PE=1 SV=3 CANONICAL=A4GXA9-1", "length": 245, "sequence": "MPTAGLAGTGVQGRWAHFWGCCGTADPTSPGGLWQRPSSGRAGPMGSGEEWSPLLRSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVLLQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLLDLGS" } }, { "url": "https://www.uniprot.org/uniprot/A4GXA9#H3BSZ6-1", "isoform_ac": "H3BSZ6-1", "locus": { "end_pos": 1775812, "strand": "-", "start_pos": 1776237, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000564182", "id": "ENST00000564182", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000456946", "id": "ENSP00000456946", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BSZ6-1|EME2_HUMAN Computationally mapped isoform of Probable crossover junction endonuclease EME2 OS=Homo sapiens OX=9606 GN=EME2 PE=1 SV=1 CANONICAL=A4GXA9-1", "length": 115, "sequence": "XQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLLDLGS" } }, { "url": "https://www.uniprot.org/uniprot/A4GXA9#H3BV62-1", "isoform_ac": "H3BV62-1", "locus": { "end_pos": 1775315, "strand": "-", "start_pos": 1776237, "chromosome": "16", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000561903", "id": "ENST00000561903", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457966", "id": "ENSP00000457966", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H3BV62-1|EME2_HUMAN Computationally mapped isoform of Probable crossover junction endonuclease EME2 OS=Homo sapiens OX=9606 GN=EME2 PE=1 SV=2 CANONICAL=A4GXA9-1", "length": 190, "sequence": "XSRQHVSRGTQQPESPKVAGAEVAVSWPEVEEALVLLQLWANLDVLLVASWQELSRHVCAVTKALAQYPLKQYRESQAFSFCTAGRWAAGEPVARDGAGLQAAWRRQIRQFSRVSPAVADAVVTAFPSPRLLQQALEACSTERERMGLLADLPVPPSEGGRPRRVGPDLSRRICLFLTTANPDLLLDLGS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:197342", "resource": "KEGG Pathway", "id": "hsa:197342", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568", "resource": "Reactome", "id": "R-HSA-5693568", "name": "Resolution of D-loop Structures through Holliday Junction Intermediates" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6783310", "resource": "Reactome", "id": "R-HSA-6783310", "name": "Fanconi Anemia Pathway" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "annotation": "Avoiding damage formation through invalidation of Mus81-Eme2 and Mre11, or preventing damage signaling by turning off the ATM pathway, suppresses the replication phenotypes of Chk1-deficient cells.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A4GXA9#function", "annotation": "Interacts with MUS81 to form a DNA structure-specific endonuclease which cleaves substrates such as 3'-flap structures.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4GXA9#function", "id": "A4GXA9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "annotation": "Results define distinct and temporal roles for MUS81-EME1 and MUS81-EME2 in the maintenance of genome stability.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "annotation": "The presence of a 5' phosphate terminus at nicks and gaps rendered DNA significantly less susceptible to the cleavage by MUS81-EME2 than its absence.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "annotation": "The results indicate that MUS81-EME2 is a more active endonuclease than MUS81-EME1 and exhibits broader substrate specificity.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244299.1", "id": "NP_001244299.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZC60-1", "protein_name": "Essential meiotic structure-specific endonuclease subunit 2", "sequence": { "length": 375, "sequence": "MAEVGPERVPGSHRGRGRGPRLGHRRPQTWEISDSDAEGAPAREVGTPARSSVGERRAAAKALRADQVLERLVVCVDPAVLEDAGSDILMEALGTLGCECRIEPQHQARSLQWSVVRPDPALSNVPQEGKAENEQEQLLLLEPQEFLQGAVQLTQMTDPPCSVPWLSPESPTRSHLAVIGLDAYLWYHQPSSQKTWPPKKSEEAQARVAISWSEVEEALVLLQLHANLDVLLVASWRELSQYVCAFTKALAQLPSKRFRDSQAFSFCTAGHWASGQQVTRDGSGLRGVWWRQIRQFNRVSPAVADAVVTAFPSPRLLQQALLDCSTEQERLSLLADLPVKAPGGKQPRRVGPDLSRRICIFLTTTNPDILLDLSS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A4GXA9/", "id": "A4GXA9", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Eme2", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q56A04-1", "protein_name": "Probable crossover junction endonuclease EME2", "sequence": { "length": 373, "sequence": "MAEVGPGRVTVSRLGRGLRLGHRRPQTWEISDSDGEGVPAREVGTQAPSPAGERRAAAKALRADQVLGRLVVCVDPAVLEDAGSDILMEALGTLGCECRIEPQHQARSLQWNVVRPDPAPSNVPLEAKAENEQEQLLLLEPQEFLQGAAQLTQITDPPCSIPWLSPKSLTRSHLAVIGLDAYLWSHQLSSQKTWQLKKSKEAHARGAISWAEVEEILVLLQLHANLDVLLMASWQELSQYVCAFTRALSQLPSKQHRDSQAFSFCTAGHWASGQQVTRDGSGLRGVWWRQIRQFNRVSPAVADAVVTAFPSPRLLQQALLDCSTEQERLSLLADLPVKAHKGKQPRRVGPDLSRRICIFLTTTNPDLLLDLSS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19180", "id": "19180", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4GXA9/", "id": "A4GXA9", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Eme2", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 115, "alt_nt": "A", "chr_id": "16", "ref_nt": "T", "chr_pos": "1823802", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4GXA9", "id": "A4GXA9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Q", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 115, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "M", "start_pos": 1, "alt_nt": "T", "chr_id": "16", "ref_nt": "A", "chr_pos": "1823229", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4GXA9", "id": "A4GXA9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 1, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 350, "alt_nt": "A", "chr_id": "16", "ref_nt": "G", "chr_pos": "1826148", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4GXA9", "id": "A4GXA9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "H", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 350, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "start_pos": 371, "alt_nt": "A", "chr_id": "16", "ref_nt": "C", "chr_pos": "1826211", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4GXA9", "id": "A4GXA9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "H", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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