{ "uniprot_canonical_ac": "P0C7P3-1", "uniprot_ac": "P0C7P3", "uniprot_id": "SLN14_HUMAN", "mass": { "chemical_mass": 103907.0, "monoisotopic_mass": 103907.0 }, "refseq": { "ac": "NP_001123292", "name": "protein SLFN14", "summary": "The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, "gene_names": [ { "name": "SLFN14", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C7P3", "id": "P0C7P3" }, { "name": "BDPLT20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292", "id": "NP_001123292" }, { "name": "SLFN14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292", "id": "NP_001123292" } ], "protein_names": [ { "name": "Protein SLFN14", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C7P3" }, { "name": "Schlafen family member 14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C7P3" }, { "name": "protein SLFN14", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292", "id": "NP_001123292" } ], "function": [ { "annotation": "Displays polysome-associated endoribonuclease activity towards mRNAs and rRNAs (PubMed:25996083). May play a role in RNA surveillance pathways by recognizing stalled ribosomes and triggering endonucleolytic cleavage of aberrant mRNAs (Probable). Cleaves different types of rRNAs and mRNAs in a magnesium- and manganese-dependent and ATP-independent manner (By similarity). Involved in correct maturation of megakaryocytes and especially important for proplatelet extension.", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3#function" }, { "database": "UniProtKB", "id": "G1SRW8", "url": "https://www.uniprot.org/uniprot/G1SRW8#function" }, { "database": "PubMed", "id": "25996083", "url": "https://glygen.org/publication/PubMed/25996083" }, { "database": "PubMed", "id": "26769223", "url": "https://glygen.org/publication/PubMed/26769223" } ] }, { "annotation": "In a family with three affected individuals we found the c.667C>T variant in SLFN14 predicted to result in the p.Arg223Trp substitution within the ATPase- AAA-4 domain of SLFN14. The variant segregated with macrothrombocytopenia within the pedigree.", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "26769223", "url": "https://glygen.org/publication/PubMed/26769223" } ] }, { "annotation": "Ribosome dysfunction underlies SLFN14-related thrombocytopenia.", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "36790527", "url": "https://glygen.org/publication/PubMed/36790527" } ] }, { "annotation": "SLFN14 colocalizes with ribosomes and causes the endoribonucleolytic degradation of rRNA in cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "29678925", "url": "https://glygen.org/publication/PubMed/29678925" } ] }, { "annotation": "SLFN14 gene mutations associated with bleeding. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "31378119", "url": "https://glygen.org/publication/PubMed/31378119" } ] }, { "annotation": "Shows no ribosome-associated and endoribonuclease activities.", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3#function" }, { "database": "PubMed", "id": "25996083", "url": "https://glygen.org/publication/PubMed/25996083" } ] }, { "annotation": "The mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD.", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "30536060", "url": "https://glygen.org/publication/PubMed/30536060" } ] }, { "annotation": "The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ] }, { "annotation": "These data suggest that SLFN14 is a novel antiviral factor for both DNA and RNA viruses", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "28734654", "url": "https://glygen.org/publication/PubMed/28734654" } ] }, { "annotation": "These results identify SLFN14 mutations as cause for an inherited thrombocytopenia with excessive bleeding, outlining a fundamental role for SLFN14 in platelet formation and function.", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "26280575", "url": "https://glygen.org/publication/PubMed/26280575" } ] }, { "annotation": "[SLFN14 inhibits LINE-1 transposition activity].", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" }, { "database": "PubMed", "id": "32694106", "url": "https://glygen.org/publication/PubMed/32694106" } ] } ], "disease": [ { "disease_id": "DOID:0111055", "recommended_name": { "id": "DOID:0111055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111055", "name": "platelet-type bleeding disorder 20", "description": "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12." }, "synonyms": [ { "id": "DOID:0111055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111055", "name": "BDPLT20", "description": "" }, { "id": "DOID:0111055", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111055", "name": "autosomal dominant thrombocytopenia with platelet secretion defect", "description": "" }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "platelet-type bleeding disorder 20", "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene." }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "BDPLT20", "description": "" }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "SLFN14 inherited bleeding disorder, platelet-type", "description": "" }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "autosomal dominant thrombocytopenia with platelet secretion defect", "description": "" }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "bleeding disorder, platelet-type, 20", "description": "" }, { "id": "MONDO:0014830", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014830", "name": "inherited bleeding disorder, platelet-type caused by mutation in SLFN14", "description": "" }, { "id": "MIM:616913", "resource": "MIM", "url": "https://www.omim.org/entry/616913", "name": "Bleeding disorder, platelet-type, 20", "description": "Bleeding disorder, platelet-type, 20" } ], "evidence": [ { "id": "616913", "database": "MIM", "url": "https://www.omim.org/entry/616913" } ] } ], "snv": [ { "evidence": [ { "id": "P0C7P3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C7P3" } ], "glycoeffect": [], "start_pos": 93, "end_pos": 93, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "Q", "sequence_mut": "R", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "35557785", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "Q93", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], 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relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P0C7P3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7P3" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P0C7P3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7P3" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P0C7P3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7P3" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7P3" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3" } ], "common_name": "Human" } ], "gene": [ { "name": "SLFN14", "url": "https://www.uniprot.org/uniprot/P0C7P3", "locus": { "chromosome": "17", "start_pos": 21857, "end_pos": 5023, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1114", "url": "https://www.ensembl.org/id/LRG_1114" } ] } } ], "crossref": [ { "id": "ENSG00000236320", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000236320", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P0C7P3", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C7P3", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "SLFN14", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SLFN14", "database": "GeneCards", "categories": [ "Gene Annotation", 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"categories": [ "Protein Classification" ] }, { "id": "IPR038461", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038461", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR048729", "url": "https://www.ebi.ac.uk/interpro/entry/IPR048729", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:342618", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:342618", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "614958", "url": "http://www.omim.org/entry/614958", "database": "MIM", "categories": [ "Other" ] }, { "id": "616913", "url": "http://www.omim.org/entry/616913", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0C7P3", "url": "https://www.nextprot.org/entry/NX_P0C7P3", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "FRETAYE", "url": "https://omabrowser.org/oma/group/FRETAYE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398472at2759", "url": "http://www.orthodb.org/?query=5398472at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12155", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12155", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12155:SF30", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12155:SF30", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04326", "url": "http://pfam.xfam.org/family/PF04326", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17057", "url": "http://pfam.xfam.org/family/PF17057", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF21026", "url": "http://pfam.xfam.org/family/PF21026", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0C7P3", "url": "https://pharos.nih.gov/targets/P0C7P3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0C7P3", "url": "http://purl.obolibrary.org/obo/PR_P0C7P3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C7P3-1", "url": "https://www.uniprot.org/uniprot/P0C7P3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C7P3-2", "url": "https://www.uniprot.org/uniprot/P0C7P3-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESLKTDTEMPYPEVIVDVGRVIFGEENRKKMTNSCLKRSENSRIIRAICALLNSGGGVIKAEIDDKTYSYQCHGLGQDLETSFQKLLPSGSQKYLDYMQQGHNLLIFVKSWSPDVFSLPLRICSLRSNLYRRDVTSAINLSASSALELLREKGFRAQRGRPRVKKLHPQQVLNRCIQEEEDMRILASEFFKKDKLMYKEKLNFTESTHVEFKRFTTKKVIPRIKEMLPHYVSAFANTQGGYVLIGVDDKSKEVVGCKWEKVNPDLLKKEIENCIEKLPTFHFCCEKPKVNFTTKILNVYQKDVLDGYVCVIQVEPFCCVVFAEAPDSWIMKDNSVTRLTAEQWVVMMLDTQSAPPSLVTDYNSCLISSASSARKSPGYPIKVHKFKEALQRHLFPVTQEEVQFKPESLCKKLFSDHKELEGLMKTLIHPCSQGIVIFSRSWAGDVGFRKEQNVLCDALLIAVNSPVVLYTILIDPNWPGGLEYARNTAHQLKQKLQTVGGYTGKVCIIPRLIHLSSTQSRPGEIPLRYPRSYRLADEEEMEDLLQALVVVSLSSRSLLSDQMGCEFFNLLIMEQSQLLSESLQKTRELFIYCFPGVRKTALAIKIMEKIKDLFHCKPKEILYVCESDSLKDFVTQQTTCQAVTRKTFMQGEFLKIKHIVMDETENFCSKYGNWYMKAKNITHPKAKGTGSENLHHGILWLFLDPFQIHHADVNGLPPPSAQFPRKTITSGIHCALEIAKVMKEEMKRIKENPPSNMSPDTLALFSETAYEEATCAQALPGVCETKTNLTTEQIANYVARKCHSLFQCGYLPKDIAILCRRGEDRGRYRLALLKAMELIETHRPSEVVFSPATGVWGSHIVLDSIQQFSGLERTVVFGLSPECDQSEEFHKLCFASRAIKHLYLLYEKRAAY", "length": 912, "header": "sp|P0C7P3-1|SLN14_HUMAN Isoform 1 of Protein SLFN14 OS=Homo sapiens OX=9606 GN=SLFN14 PE=1 SV=2 CANONICAL=P0C7P3-1" }, "isoforms": [ { "isoform_ac": "P0C7P3-1", "url": "", "sequence": { "sequence": "MESLKTDTEMPYPEVIVDVGRVIFGEENRKKMTNSCLKRSENSRIIRAICALLNSGGGVIKAEIDDKTYSYQCHGLGQDLETSFQKLLPSGSQKYLDYMQQGHNLLIFVKSWSPDVFSLPLRICSLRSNLYRRDVTSAINLSASSALELLREKGFRAQRGRPRVKKLHPQQVLNRCIQEEEDMRILASEFFKKDKLMYKEKLNFTESTHVEFKRFTTKKVIPRIKEMLPHYVSAFANTQGGYVLIGVDDKSKEVVGCKWEKVNPDLLKKEIENCIEKLPTFHFCCEKPKVNFTTKILNVYQKDVLDGYVCVIQVEPFCCVVFAEAPDSWIMKDNSVTRLTAEQWVVMMLDTQSAPPSLVTDYNSCLISSASSARKSPGYPIKVHKFKEALQRHLFPVTQEEVQFKPESLCKKLFSDHKELEGLMKTLIHPCSQGIVIFSRSWAGDVGFRKEQNVLCDALLIAVNSPVVLYTILIDPNWPGGLEYARNTAHQLKQKLQTVGGYTGKVCIIPRLIHLSSTQSRPGEIPLRYPRSYRLADEEEMEDLLQALVVVSLSSRSLLSDQMGCEFFNLLIMEQSQLLSESLQKTRELFIYCFPGVRKTALAIKIMEKIKDLFHCKPKEILYVCESDSLKDFVTQQTTCQAVTRKTFMQGEFLKIKHIVMDETENFCSKYGNWYMKAKNITHPKAKGTGSENLHHGILWLFLDPFQIHHADVNGLPPPSAQFPRKTITSGIHCALEIAKVMKEEMKRIKENPPSNMSPDTLALFSETAYEEATCAQALPGVCETKTNLTTEQIANYVARKCHSLFQCGYLPKDIAILCRRGEDRGRYRLALLKAMELIETHRPSEVVFSPATGVWGSHIVLDSIQQFSGLERTVVFGLSPECDQSEEFHKLCFASRAIKHLYLLYEKRAAY", "length": 912, "header": "sp|P0C7P3-1|SLN14_HUMAN Isoform 1 of Protein SLFN14 OS=Homo sapiens OX=9606 GN=SLFN14 PE=1 SV=2 CANONICAL=P0C7P3-1" }, "locus": { "chromosome": "17", "start_pos": 35558062, "end_pos": 35548242, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674182.1", "url": "https://www.ensembl.org/id/ENST00000674182.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501524.1", "url": "https://www.ensembl.org/id/ENSP00000501524.1" } ] } }, { "isoform_ac": "P0C7P3-2", "url": "", "sequence": { "sequence": "MESLKTDTEMPYPEVIVDVGRVIFGEENRKKMTNSCLKRSENSRIIRAICALLNSGGGVIKAEIDDKTYSYQCHGLGQDLETSFQKLLPSGSQKYLDYMQQGHNLLIFVKSWSPDVFSLPLRICSLRSNLYRRDVTSAINLSASSALELLREKGFRAQRGRPRVKKLHPQQVLNRCIQEEEDMRILASEFFKKDKLMYKEKLNFTESTHVEFKRFTTKKVIPRIKEMLPHYVSAFANTQGGYVLIGVDDKSKEVVGCKWEKVNPDLLKKEIENCIEKLPTFHFCCEKPKVNFTTKILNVYQKDVLDGYVCVIQVEPFCCVVFAEAPDSWIMKDNSVTRLTAEQWVVMMLDTQSASSARKSPGYPIKVHKFKEALQRHLFPVTQEEVQFKPESLCKKLFSDHKELEGLMKTLIHPCSQGIVIFSRSWAGDVGFRKEQNVLCDALLIAVNSPVVLYTILIDPNWPGGLEYARNTAHQLKQKLQTVGGYTGKVCIIPRLIHLSSTQSRPGEIPLRYPRSYRLADEEEMEDLLQALVVVSLSSRSLLSDQMGCEFFNLLIMEQSQLLSESLQKTRELFIYCFPGVRKTALAIKIMEKIKDLFHCKPKEILYVCESDSLKDFVTQQTTCQAVTRKTFMQGEFLKIKHIVMDETENFCSKYGNWYMKAKNITHPKAKGTGSENLHHGILWLFLDPFQIHHADVNGLPPPSAQFPRKTITSGIHCALEIAKVMKEEMKRIKENPPSNMSPDTLALFSETAYEEATCAQALPGVCETKTNLTTEQIANYVARKCHSLFQCGYLPKDIAILCRRGEDRGRYRLALLKAMELIETHRPSEVVFSPATGVWGSHIVLDSIQQFSGLERTVVFGLSPECDQSEEFHKLCFASRAIKHLYLLYEKRAAY", "length": 896, "header": "sp|P0C7P3-2|SLN14_HUMAN Isoform 2 of Protein SLFN14 OS=Homo sapiens OX=9606 GN=SLFN14 PE=1 SV=2 CANONICAL=P0C7P3-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Role of interferon {alpha} (IFN{alpha})-inducible Schlafen-5 in regulation of anchorage-independent growth and invasion of malignant melanoma cells.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Katsoulidis E, Mavrommatis E, Woodard J, Shields MA, Sassano A, Carayol N, Sawicki KT, Munshi HG, Platanias LC", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3" } ], "reference": [ { "type": "PubMed", "id": "20956525", "url": "https://glygen.org/publication/PubMed/20956525" } ] }, { "title": "Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes.", "journal": "Biochemistry", "date": "2015", "authors": "Pisareva VP, Muslimov IA, Tcherepanov A, Pisarev AV", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3" } ], "reference": [ { "type": "PubMed", "id": "25996083", "url": "https://glygen.org/publication/PubMed/25996083" } ] }, { "title": "SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.", "journal": "The Journal of clinical investigation", "date": "2015", "authors": "Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidze M, Guiu IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3" }, { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "26280575", "url": "https://glygen.org/publication/PubMed/26280575" } ] }, { "title": "SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.", "journal": "Thrombosis and haemostasis", "date": "2016", "authors": "Marconi C, Di Buduo CA, Barozzi S, Palombo F, Pardini S, Zaninetti C, Pippucci T, Noris P, Balduini A, Seri M, Pecci A", "evidence": [ { "database": "UniProtKB", "id": "P0C7P3", "url": "https://www.uniprot.org/uniprot/P0C7P3" }, { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "26769223", "url": "https://glygen.org/publication/PubMed/26769223" } ] }, { "title": "Schlafen 14 (SLFN14) is a novel antiviral factor involved in the control of viral replication.", "journal": "Immunobiology", "date": "2017", "authors": "Seong RK, Seo SW, Kim JA, Fletcher SJ, Morgan NV, Kumar M, Choi YK, Shin OS", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "28734654", "url": "https://glygen.org/publication/PubMed/28734654" } ] }, { "title": "Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.", "journal": "RNA (New York, N.Y.)", "date": "2018", "authors": "Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "29678925", "url": "https://glygen.org/publication/PubMed/29678925" } ] }, { "title": "Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.", "journal": "Current medical science", "date": "2018", "authors": "Su W, Wang RC, Lohano MK, Wang L, Zhu P, Luo Y, Guo LJ, Lv Q, Jiang H, Wang JH, Mei L, Weng J, Su L, Dong NG", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "30536060", "url": "https://glygen.org/publication/PubMed/30536060" } ] }, { "title": "SLFN14 gene mutations associated with bleeding.", "journal": "Platelets", "date": "2020", "authors": "Stapley RJ, Pisareva VP, Pisarev AV, Morgan NV", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "31378119", "url": "https://glygen.org/publication/PubMed/31378119" } ] }, { "title": "[SLFN14 inhibits LINE-1 transposition activity].", "journal": "Yi chuan = Hereditas", "date": "2020", "authors": "Mao Y, Ding JW, Chen MS, Cen S, Li XY", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "32694106", "url": "https://glygen.org/publication/PubMed/32694106" } ] }, { "title": "Ribosome dysfunction underlies SLFN14-related thrombocytopenia.", "journal": "Blood", "date": "2023-02-15", "authors": "Ver Donck Fabienne, Ramaekers Kato, Thys Chantal, Van Laer Christine, Peerlinck Kathelijne, van Geet Chris, Eto Koji, Labarque Veerle, Freson Kathleen", "evidence": [ { "database": "RefSeq", "id": "NP_001123292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123292" } ], "reference": [ { "type": "PubMed", "id": "36790527", "url": "https://glygen.org/publication/PubMed/36790527" } ] } ], "pathway": [ { "id": "hsa:342618", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:342618", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A096MK07-1", "protein_name": "Uncharacterized protein", "gene_name": "AC118772.1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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