{ "uniprot_canonical_ac": "O15392-1", "uniprot_ac": "O15392", "uniprot_id": "BIRC5_HUMAN", "mass": { "chemical_mass": 16389.0, "monoisotopic_mass": 16389.0 }, "refseq": { "ac": "NP_001012270", "name": "baculoviral IAP repeat-containing protein 5 isoform 2", "summary": "This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, "gene_names": [ { "name": "BIRC5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15392", "id": "O15392" }, { "name": "API4; EPR-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270", "id": "NP_001012270" }, { "name": "API4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15392", "id": "O15392" }, { "name": "BIRC5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270", "id": "NP_001012270" }, { "name": "IAP4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15392", "id": "O15392" } ], "protein_names": [ { "name": "Baculoviral IAP repeat-containing protein 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15392" }, { "name": "Apoptosis inhibitor 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15392" }, { "name": "Apoptosis inhibitor survivin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15392" }, { "name": "apoptosis inhibitor 4; baculoviral IAP repeat-containing protein 5; apoptosis inhibitor survivin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270", "id": "NP_001012270" }, { "name": "baculoviral IAP repeat-containing protein 5 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270", "id": "NP_001012270" } ], "function": [ { "annotation": "An Insight into Survivin in Relevance to Hematological, Biochemical and Genetic Characteristics in Tobacco Chewers with Oral Squamous Cell Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, { "database": "PubMed", "id": "37408277", "url": "https://glygen.org/publication/PubMed/37408277" } ] }, { "annotation": "BIRC5 Gene Polymorphisms Are Associated with a Higher Stage of Local and Regional Disease in Oral and Oropharyngeal Squamous Cell Carcinomas. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, { "database": "PubMed", "id": "38139318", "url": "https://glygen.org/publication/PubMed/38139318" } ] }, { "annotation": "Downregulation of PTPRT elevates the expression of survivin and promotes the proliferation, migration, and invasion of lung adenocarcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, { "database": "PubMed", "id": "38216925", "url": "https://glygen.org/publication/PubMed/38216925" } ] }, { "annotation": "Establishing a prognostic model based on immune-related genes and identification of BIRC5 as a potential biomarker for lung adenocarcinoma patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, { "database": "PubMed", "id": "37741993", "url": "https://glygen.org/publication/PubMed/37741993" } ] }, { "annotation": "Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis (PubMed:9859993, PubMed:21364656, PubMed:20627126, PubMed:25778398, PubMed:28218735). Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis (PubMed:16322459). Acts as an important regulator of the localization of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organization of the center spindle by associating with polymerized microtubules (PubMed:20826784). Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at 'Thr-3' (H3pT3) during mitosis (PubMed:20929775). The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules (PubMed:18591255). May counteract a default induction of apoptosis in G2/M phase (PubMed:9859993). The acetylated form represses STAT3 transactivation of target gene promoters (PubMed:20826784). May play a role in neoplasia (PubMed:10626797). Inhibitor of CASP3 and CASP7 (PubMed:21536684). Essential for the maintenance of mitochondrial integrity and function (PubMed:25778398). Isoform 2 and isoform 3 do not appear to play vital roles in mitosis (PubMed:12773388, PubMed:16291752). Isoform 3 shows a marked reduction in its anti-apoptotic effects when compared with the displayed wild-type isoform (PubMed:10626797).", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392#function" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" }, { "database": "PubMed", "id": "20627126", "url": "https://glygen.org/publication/PubMed/20627126" }, { "database": "PubMed", "id": "12773388", "url": "https://glygen.org/publication/PubMed/12773388" }, { "database": "PubMed", "id": "16322459", "url": "https://glygen.org/publication/PubMed/16322459" }, { "database": "PubMed", "id": "9859993", "url": "https://glygen.org/publication/PubMed/9859993" }, { "database": "PubMed", "id": "21364656", "url": "https://glygen.org/publication/PubMed/21364656" }, { "database": "PubMed", "id": "10626797", "url": "https://glygen.org/publication/PubMed/10626797" }, { "database": "PubMed", "id": "20826784", "url": "https://glygen.org/publication/PubMed/20826784" }, { "database": "PubMed", "id": "16291752", "url": "https://glygen.org/publication/PubMed/16291752" }, { "database": "PubMed", "id": "25778398", "url": "https://glygen.org/publication/PubMed/25778398" }, { "database": "PubMed", "id": "21536684", "url": "https://glygen.org/publication/PubMed/21536684" }, { "database": "PubMed", "id": "28218735", "url": "https://glygen.org/publication/PubMed/28218735" }, { "database": "PubMed", "id": "18591255", "url": "https://glygen.org/publication/PubMed/18591255" } ] }, { "annotation": "Post-transcriptional regulation of BIRC5/survivin expression and induction of apoptosis in breast cancer cells by tristetraprolin.", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" }, { "database": "PubMed", "id": "38111129", "url": "https://glygen.org/publication/PubMed/38111129" } ] }, { "annotation": "This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001012270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012270" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 117, "end_pos": 117, "sequence_org": "T", "sequence_mut": "A", "comment": "Prevents phosphorylation by AURKB. Still able to localize correctly but prevents interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "14610074", "url": "https://glygen.org/publication/PubMed/14610074" } ] }, { "start_pos": 117, "end_pos": 117, "sequence_org": "T", "sequence_mut": "E", "comment": "Mimics phosphorylation. Disrupts subcellular localization during mitosis and prevents interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "14610074", "url": "https://glygen.org/publication/PubMed/14610074" } ] }, { "start_pos": 126, "end_pos": 126, "sequence_org": "E", "sequence_mut": "A", "comment": "Loss of FBXL7 binding.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "25778398", "url": "https://glygen.org/publication/PubMed/25778398" } ] }, { "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "A", "comment": "Mimics acetylation. Localization primarily within the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20826784", "url": "https://glygen.org/publication/PubMed/20826784" } ] }, { "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "Q", "comment": "Mimics acetylation. Localization primarily within the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20826784", "url": "https://glygen.org/publication/PubMed/20826784" } ] }, { "start_pos": 129, "end_pos": 129, "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of acetylation. Localization primarily within the cytoplasm.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20826784", "url": "https://glygen.org/publication/PubMed/20826784" } ] }, { "start_pos": 18, "end_pos": 18, "sequence_org": "R", "sequence_mut": "A", "comment": "Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" } ] }, { "start_pos": 23, "end_pos": 23, "sequence_org": "K", "sequence_mut": "R", "comment": "Increases ubiquitination and blocks dissociation from centromeres; when associated with R-62; R-78 and R-79.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16322459", "url": "https://glygen.org/publication/PubMed/16322459" } ] }, { "start_pos": 25, "end_pos": 25, "sequence_org": "W", "sequence_mut": "A", "comment": "Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" } ] }, { "start_pos": 33, "end_pos": 33, "sequence_org": "C", "sequence_mut": "R", "comment": "Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of LAMTOR5 binding.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "12773388", "url": "https://glygen.org/publication/PubMed/12773388" } ] }, { "start_pos": 34, "end_pos": 34, "sequence_org": "T", "sequence_mut": "E", "comment": "Higher affinity for LAMTOR5 binding.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "12773388", "url": "https://glygen.org/publication/PubMed/12773388" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "T", "sequence_mut": "A", "comment": "Localizes normally during mitosis but cannot support cell proliferation. Increased affinity for CDCA8/borealin.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "21252625", "url": "https://glygen.org/publication/PubMed/21252625" } ] }, { "start_pos": 48, "end_pos": 48, "sequence_org": "T", "sequence_mut": "E", "comment": "Localizes normally during mitosis but cannot support cell proliferation. Increased affinity for CDCA8/borealin.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "21252625", "url": "https://glygen.org/publication/PubMed/21252625" } ] }, { "start_pos": 57, "end_pos": 57, "sequence_org": "C", "sequence_mut": "A", "comment": "Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" } ] }, { "start_pos": 62, "end_pos": 62, "sequence_org": "K", "sequence_mut": "R", "comment": "Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-78 and R-79.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16322459", "url": "https://glygen.org/publication/PubMed/16322459" } ] }, { "start_pos": 65, "end_pos": 65, "sequence_org": "E", "sequence_mut": "A", "comment": "Almost abolishes RAN-binding. Does not disrupt binding to AURKB or CDCA8. Disrupts mitotic spindle assembly. Does not disrupt nuclear export.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "18591255", "url": "https://glygen.org/publication/PubMed/18591255" } ] }, { "start_pos": 67, "end_pos": 67, "sequence_org": "W", "sequence_mut": "A", "comment": "Disrupts interaction with histone H3pT3, no effect on interaction with INCENP.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20929775", "url": "https://glygen.org/publication/PubMed/20929775" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "D", "sequence_mut": "A", "comment": "No change. Loss of interaction with AURKB; when associated with A-71.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16762323", "url": "https://glygen.org/publication/PubMed/16762323" } ] }, { "start_pos": 71, "end_pos": 71, "sequence_org": "D", "sequence_mut": "A", "comment": "No change. Loss of interaction with AURKB; when associated with A-70.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16762323", "url": "https://glygen.org/publication/PubMed/16762323" } ] }, { "start_pos": 78, "end_pos": 78, "sequence_org": "K", "sequence_mut": "R", "comment": "Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-62 and R-79.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16322459", "url": "https://glygen.org/publication/PubMed/16322459" } ] }, { "start_pos": 79, "end_pos": 79, "sequence_org": "K", "sequence_mut": "R", "comment": "Increases ubiquitination and blocks dissociation from centromeres; when associated with R-23; R-62 and R-78.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "16322459", "url": "https://glygen.org/publication/PubMed/16322459" } ] }, { "start_pos": 84, "end_pos": 84, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of cytoprotection.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" } ] }, { "start_pos": 90, "end_pos": 91, "sequence_org": "KK", "sequence_mut": "RR", "comment": "Loss of FBXL7 mediated polyubiquitination.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "25778398", "url": "https://glygen.org/publication/PubMed/25778398" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "66.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "55.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "50.94", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "54", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "52.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "62.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "63.3", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000089685", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000089685" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15392", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15392" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15392", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15392" } ], "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", 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two novel splice variants of the apoptosis inhibitor survivin with different antiapoptotic properties.", "journal": "Cancer research", "date": "1999-12-15", "authors": "Mahotka C, Wenzel M, Springer E, Gabbert H E, Gerharz C D", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" } ], "reference": [ { "type": "PubMed", "id": "10626797", "url": "https://glygen.org/publication/PubMed/10626797" } ] }, { "title": "Diaphanous-related formins bridge Rho GTPase and Src tyrosine kinase signaling.", "journal": "Molecular cell", "date": "2000", "authors": "Tominaga T, Sahai E, Chardin P, McCormick F, Courtneidge SA, Alberts AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-5663220", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5663220" } ], "reference": [ { "type": "PubMed", "id": "10678165", "url": "https://glygen.org/publication/PubMed/10678165" } ] }, { "title": "PERP, an apoptosis-associated target of p53, is a novel 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the AAA-ATPase, p97, to ubiquitin and nuclear transport pathways.", "journal": "The EMBO journal", "date": "2000", "authors": "Meyer HH, Shorter JG, Seemann J, Pappin D, Warren G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10811609", "url": "https://glygen.org/publication/PubMed/10811609" } ] }, { "title": "SUMO-1 conjugation to human DNA topoisomerase II isozymes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Mao Y, Desai SD, Liu LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-4615885", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4615885" } ], "reference": [ { "type": "PubMed", "id": "10862613", "url": "https://glygen.org/publication/PubMed/10862613" } ] }, { "title": "Signal transducer and activator of transcription 3 activates CCAAT enhancer-binding protein delta gene transcription in G0 growth-arrested mouse mammary epithelial cells and in involuting mouse mammary gland.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Hutt JA, O'Rourke JP, DeWille J", "evidence": [ { "database": "Reactome", "id": "R-HSA-6785807", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6785807" } ], "reference": [ { "type": "PubMed", "id": "10867011", "url": "https://glygen.org/publication/PubMed/10867011" } ] }, { "title": "Structure of the human anti-apoptotic protein survivin reveals a dimeric arrangement.", "journal": "Nat. Struct. Biol.", "date": "2000", "authors": "Verdecia MA, Huang H, Dutil E, Kaiser DA, Hunter T, Noel JP", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" } ], "reference": [ { "type": "PubMed", "id": "10876248", "url": "https://glygen.org/publication/PubMed/10876248" } ] }, { "title": "Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.", "journal": "Nature cell biology", "date": "2000", "authors": "Ohh M, Park CW, Ivan M, Hoffman MA, Kim TY, Huang LE, Pavletich N, Chau V, Kaelin WG", "evidence": [ { "database": "Reactome", "id": "R-HSA-8951664", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8951664" } ], "reference": [ { "type": "PubMed", "id": "10878807", "url": "https://glygen.org/publication/PubMed/10878807" } ] }, { "title": "Crystal structure of human survivin reveals a bow tie-shaped dimer with two unusual alpha-helical extensions.", "journal": "Mol. 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The acetylated form represses STAT3 transactivation. The dynamic equilibrium between its acetylation and deacetylation at Lys-129 determines its interaction with XPO1/CRM1, its subsequent subcellular localization, and its ability to inhibit STAT3 transactivation.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "20826784", "url": "https://glygen.org/publication/PubMed/20826784" } ] }, { "annotation": "In vitro phosphorylation at Thr-117 by AURKB prevents interaction with INCENP and localization to mitotic chromosomes (PubMed:14610074). Phosphorylation at Thr-48 by CK2 is critical for its mitotic and anti-apoptotic activities (PubMed:21252625). Phosphorylation at Thr-34 by CDK15 is critical for its anti-apoptotic activity (PubMed:24866247). Phosphorylation at Ser-20 by AURKC is critical for regulation of proper chromosome alignment and segregation, and possibly cytokinesis.", "evidence": [ { "database": "UniProtKB", "id": "O15392", "url": "https://www.uniprot.org/uniprot/O15392" }, { "database": "PubMed", "id": "27332895", "url": "https://glygen.org/publication/PubMed/27332895" }, { "database": "PubMed", "id": "24866247", "url": "https://glygen.org/publication/PubMed/24866247" }, { "database": "PubMed", "id": "11069302", "url": "https://glygen.org/publication/PubMed/11069302" }, { "database": "PubMed", "id": "21252625", "url": "https://glygen.org/publication/PubMed/21252625" }, { "database": "PubMed", "id": "14610074", "url": "https://glygen.org/publication/PubMed/14610074" } ] }, { "annotation": "Ubiquitinated by the Cul9-RING ubiquitin-protein ligase complex, leading to its degradation. Ubiquitination is required for centrosomal targeting. 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