{ "uniprot_canonical_ac": "O15397-1", "uniprot_ac": "O15397", "uniprot_id": "IPO8_HUMAN", "mass": { "chemical_mass": 119938.0, "monoisotopic_mass": 119938.0 }, "refseq": { "ac": "NP_001177924", "name": "importin-8 isoform 2", "summary": "The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" }, "gene_names": [ { "name": "IPO8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15397", "id": "O15397" }, { "name": "IPO8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "id": "NP_001177924" }, { "name": "RANBP8; VISS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "id": "NP_001177924" }, { "name": "RANBP8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15397", "id": "O15397" } ], "protein_names": [ { "name": "Importin-8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15397" }, { "name": "Imp8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15397" }, { "name": "RAN binding protein 8; imp8; ran-binding protein 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "id": "NP_001177924" }, { "name": "Ran-binding protein 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15397" }, { "name": "RanBP8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15397" }, { "name": "importin-8 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "id": "NP_001177924" } ], "function": [ { "annotation": "A human importin-beta-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.", "evidence": [ { "database": "RefSeq", "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" }, { "database": "PubMed", "id": "34010605", "url": "https://glygen.org/publication/PubMed/34010605" } ] }, { "annotation": "Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.", "evidence": [ { "database": "RefSeq", "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" }, { "database": "PubMed", "id": "34010604", "url": "https://glygen.org/publication/PubMed/34010604" } ] }, { "annotation": "Involved in nuclear protein import, either by acting as autonomous nuclear transport receptor or as an adapter-like protein in association with the importin-beta subunit KPNB1. Acting autonomously, may serve as receptor for nuclear localization signals (NLS) and promote translocation of import substrates through the nuclear pore complex (NPC) by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:9214382). In vitro mediates the nuclear import of the signal recognition particle protein SRP19 (PubMed:11682607). May also be involved in cytoplasm-to-nucleus shuttling of a broad spectrum of other cargos, including Argonaute-microRNAs complexes, the JUN protein, RELA/NF-kappa-B p65 subunit, the translation initiation factor EIF4E and a set of receptor-activated mothers against decapentaplegic homolog (SMAD) transcription factors that play a critical role downstream of the large family of transforming growth factor beta and bone morphogenetic protein (BMP) cytokines (Probable).", "evidence": [ { "database": "UniProtKB", "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397#function" }, { "database": "PubMed", "id": "9214382", "url": "https://glygen.org/publication/PubMed/9214382" }, { "database": "PubMed", "id": "11682607", "url": "https://glygen.org/publication/PubMed/11682607" }, { "database": "PubMed", "id": "34010604", "url": "https://glygen.org/publication/PubMed/34010604" } ] }, { "annotation": "Our studies also suggest that nuclear entry is important for the prooncogenic activity of eIF4E, at least in this context. These findings position nuclear trafficking of eIF4E as a critical step in its regulation and position the importin 8-eIF4E complex as a novel therapeutic target.", "evidence": [ { "database": "RefSeq", "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" }, { "database": "PubMed", "id": "27114554", "url": "https://glygen.org/publication/PubMed/27114554" } ] }, { "annotation": "The findings of the present study provided novel insights into the control of IPO8 transcription, and may enhance understanding regarding RUNX2 regulatory mechanisms in osteoblast differentiation, bone development, and degenerative bone disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" }, { "database": "PubMed", "id": "27277970", "url": "https://glygen.org/publication/PubMed/27277970" } ] }, { "annotation": "The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924" } ] } ], "disease": [ { "disease_id": "MONDO:0859177", "recommended_name": { "id": "MONDO:0859177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859177", "name": "VISS syndrome", "description": "" }, "synonyms": [ { "id": "MIM:619472", "resource": "MIM", "url": "https://www.omim.org/entry/619472", "name": "VISS syndrome", "description": "VISS syndrome" } ], "evidence": [ { "id": "619472", "database": "MIM", "url": "https://www.omim.org/entry/619472" } ] } ], "snv": [ { "evidence": [ { "id": "O15397", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15397" } ], "glycoeffect": [], "start_pos": 499, "end_pos": 499, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "30663588", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V499", "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": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "91.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "89.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "88.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15397", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15397" } ], "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": 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the 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"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 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}, { "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": 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"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": "O15397", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15397" } ], "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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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397" } ], "common_name": "Human" } ], "gene": [ { "name": "IPO8", "url": "https://www.uniprot.org/uniprot/O15397", "locus": { "chromosome": "12", "start_pos": 30628988, "end_pos": 30695869, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000133704", "url": "https://www.ensembl.org/id/ENSG00000133704" } ] } } ], "crossref": [ { "id": "ENSG00000133704", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000133704", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O15397", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15397", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "IPO8", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=IPO8", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10526", "url": "https://www.ncbi.nlm.nih.gov/gene/10526", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "9853", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9853", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15397", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15397*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001494", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001494", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011989", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011989", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013713", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013713", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016024", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10526", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10526", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605600", "url": "http://www.omim.org/entry/605600", "database": "MIM", "categories": [ "Other" ] }, { "id": "619472", "url": "http://www.omim.org/entry/619472", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15397", "url": "https://www.nextprot.org/entry/NX_O15397", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15397", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15397", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KNFEYRS", "url": "https://omabrowser.org/oma/group/KNFEYRS/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "168511at2759", "url": "http://www.orthodb.org/?query=168511at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10997", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10997", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10997:SF26", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10997:SF26", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03810", "url": "http://pfam.xfam.org/family/PF03810", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08506", "url": "http://pfam.xfam.org/family/PF08506", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15397", "url": "https://pharos.nih.gov/targets/O15397", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15397", "url": "http://purl.obolibrary.org/obo/PR_O15397", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001177924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177924", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087WXH2", "url": "https://www.uniprot.org/uniprot/A0A087WXH2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WXH2-1", "url": "https://www.uniprot.org/uniprot/A0A087WXH2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXT5", "url": "https://www.uniprot.org/uniprot/F5GXT5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GXT5-1", "url": "https://www.uniprot.org/uniprot/F5GXT5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H009", "url": "https://www.uniprot.org/uniprot/F5H009", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H009-1", "url": "https://www.uniprot.org/uniprot/F5H009-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H244", "url": "https://www.uniprot.org/uniprot/F5H244", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H244-1", "url": "https://www.uniprot.org/uniprot/F5H244-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H292", "url": "https://www.uniprot.org/uniprot/F5H292", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H292-1", "url": "https://www.uniprot.org/uniprot/F5H292-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2I3", "url": "https://www.uniprot.org/uniprot/F5H2I3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2I3-1", "url": "https://www.uniprot.org/uniprot/F5H2I3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H815", "url": "https://www.uniprot.org/uniprot/F5H815", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H815-1", "url": "https://www.uniprot.org/uniprot/F5H815-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH64", "url": "https://www.uniprot.org/uniprot/H0YH64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YH64-1", "url": "https://www.uniprot.org/uniprot/H0YH64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15397-1", "url": "https://www.uniprot.org/uniprot/O15397-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15397-2", "url": "https://www.uniprot.org/uniprot/O15397-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQYALPLQLVNNQTMTTWMEIFRTIIDRTVPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVGIQQVLLKILDQYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQNISEDVIFSVMCYKDEDEELWQEDPYEYIRMKFDIFEDYASPTTAAQTLLYTAAKKRKEVLPKMMAFCYQILTDPNFDPRKKDGALHVIGSLAEILLKKSLFKDQMELFLQNHVFPLLLSNLGYLRARSCWVLHAFSSLKFHNELNLRNAVELAKKSLIEDKEMPVKVEAALALQSLISNQIQAKEYMKPHVRPIMQELLHIVRETENDDVTNVIQKMICEYSQEVASIAVDMTQHLAEIFGKVLQSDEYEEVEDKTVMAMGILHTIDTILTVVEDHKEITQQLENICLRIIDLVLQKHVIEFYEEILSLAYSLTCHSISPQMWQLLGILYEVFQQDCFEYFTDMMPLLHNYVTIDTDTLLSNAKHLEILFTMCRKVLCGDAGEDAECHAAKLLEVIILQCKGRGIDQCIPLFVQLVLERLTRGVKTSELRTMCLQVAIAALYYNPDLLLHTLERIQLPHNPGPITVQFINQWMNDTDCFLGHHDRKMCIIGLSILLELQNRPPAVDAVVGQIVPSILFLFLGLKQVCATRQLVNREDRSKAEKADMEENEEISSDEEETNVTAQAMQSNNGRGEDEEEEDDDWDEEVLEETALEGFSTPLDLDNSVDEYQFFTQALITVQSRDAAWYQLLMAPLSEDQRTALQEVYTLAEHRRTVAEAKKKIEQQGGFTFENKGVLSAFNFGTVPSNN", "length": 1037, "header": "sp|O15397-1|IPO8_HUMAN Isoform 1 of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=2 CANONICAL=O15397-1" }, "isoforms": [ { "isoform_ac": "A0A087WXH2-1", "url": "", "sequence": { "sequence": "XVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQVGFYCRKQTWSPVFLPDTWKVLNKCHLLLKIILYYP", "length": 142, "header": "tr|A0A087WXH2-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30681817, "end_pos": 30680372, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000611458.4", "url": "https://www.ensembl.org/id/ENST00000611458.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481026.1", "url": "https://www.ensembl.org/id/ENSP00000481026.1" } ] } }, { "isoform_ac": "F5GXT5-1", "url": "", "sequence": { "sequence": "MVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQ", "length": 151, "header": "tr|F5GXT5-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30684437, "end_pos": 30680482, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535989.1", "url": "https://www.ensembl.org/id/ENST00000535989.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440979.1", "url": "https://www.ensembl.org/id/ENSP00000440979.1" } ] } }, { "isoform_ac": "F5H009-1", "url": "", "sequence": { "sequence": "MVTQYWPDREPPPGEAIFPFNIHENDRQQIRDN", "length": 33, "header": "tr|F5H009-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30684437, "end_pos": 30684339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358724.4", "url": "https://www.ensembl.org/id/ENST00000358724.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000444050.1", "url": "https://www.ensembl.org/id/ENSP00000444050.1" } ] } }, { "isoform_ac": "F5H244-1", "url": "", "sequence": { "sequence": "MSVACSMFCTEWMWRQYPSSATHSTAEYALPLQLVNNQTMTTWMEIFRTIIDRTVPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVGIQQVLLKILDQYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQNISED", "length": 167, "header": "tr|F5H244-1|F5H244_HUMAN Computationally mapped isoform of Importin 8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30677126, "end_pos": 30669268, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000542464.1", "url": "https://www.ensembl.org/id/ENST00000542464.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439556.1", "url": "https://www.ensembl.org/id/ENSP00000439556.1" } ] } }, { "isoform_ac": "F5H292-1", "url": "", "sequence": { "sequence": "MLMLSGNTSAKYFFSFACGQSKVFLLPSSVLTAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLV", "length": 84, "header": "tr|F5H292-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30688456, "end_pos": 30684303, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543446.1", "url": "https://www.ensembl.org/id/ENST00000543446.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439413.1", "url": "https://www.ensembl.org/id/ENSP00000439413.1" } ] } }, { "isoform_ac": "F5H2I3-1", "url": "", "sequence": { "sequence": "MVILLYLRHIKSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNM", "length": 46, "header": "tr|F5H2I3-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30695010, "end_pos": 30684435, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545077.1", "url": "https://www.ensembl.org/id/ENST00000545077.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446254.1", "url": "https://www.ensembl.org/id/ENSP00000446254.1" } ] } }, { "isoform_ac": "F5H815-1", "url": "", "sequence": { "sequence": "MDLNRIIQALKGTIDPKLRIAAENELNQFTSDYSL", "length": 35, "header": "tr|F5H815-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30695647, "end_pos": 30690528, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540979.1", "url": "https://www.ensembl.org/id/ENST00000540979.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000443789.1", "url": "https://www.ensembl.org/id/ENSP00000443789.1" } ] } }, { "isoform_ac": "H0YH64-1", "url": "", "sequence": { "sequence": "XLLELQNRPPAVDAVVGQIVPSILFLFLGLKQVCATRQLVNREDRSKAEKADMEENEEISSDEEETNVTAQAMQSNNGRGEDEEEEDDDWDEEVLEETALEGFSTPLDLDNSVDEYQFFTQALITVQSRDAAWYQLLMAPLSEDQRTALQEVYTLAEHRRTVAGQPE", "length": 167, "header": "tr|H0YH64-1|IPO8_HUMAN Computationally mapped isoform of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=1 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30637149, "end_pos": 30631883, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000535598.1", "url": "https://www.ensembl.org/id/ENST00000535598.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000446232.1", "url": "https://www.ensembl.org/id/ENSP00000446232.1" } ] } }, { "isoform_ac": "O15397-1", "url": "", "sequence": { "sequence": "MDLNRIIQALKGTIDPKLRIAAENELNQSYKIINFAPSLLRIIVSDHVEFPVRQAAAIYLKNMVTQYWPDREPPPGEAIFPFNIHENDRQQIRDNIVEGIIRSPDLVRVQLTMCLRAIIKHDFPGHWPGVVDKIDYYLQSQSSASWLGSLLCLYQLVKTYEYKKAEEREPLIIAMQIFLPRIQQQIVQLLPDSSYYSVLLQKQILKIFYALVQYALPLQLVNNQTMTTWMEIFRTIIDRTVPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVGIQQVLLKILDQYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQNISEDVIFSVMCYKDEDEELWQEDPYEYIRMKFDIFEDYASPTTAAQTLLYTAAKKRKEVLPKMMAFCYQILTDPNFDPRKKDGALHVIGSLAEILLKKSLFKDQMELFLQNHVFPLLLSNLGYLRARSCWVLHAFSSLKFHNELNLRNAVELAKKSLIEDKEMPVKVEAALALQSLISNQIQAKEYMKPHVRPIMQELLHIVRETENDDVTNVIQKMICEYSQEVASIAVDMTQHLAEIFGKVLQSDEYEEVEDKTVMAMGILHTIDTILTVVEDHKEITQQLENICLRIIDLVLQKHVIEFYEEILSLAYSLTCHSISPQMWQLLGILYEVFQQDCFEYFTDMMPLLHNYVTIDTDTLLSNAKHLEILFTMCRKVLCGDAGEDAECHAAKLLEVIILQCKGRGIDQCIPLFVQLVLERLTRGVKTSELRTMCLQVAIAALYYNPDLLLHTLERIQLPHNPGPITVQFINQWMNDTDCFLGHHDRKMCIIGLSILLELQNRPPAVDAVVGQIVPSILFLFLGLKQVCATRQLVNREDRSKAEKADMEENEEISSDEEETNVTAQAMQSNNGRGEDEEEEDDDWDEEVLEETALEGFSTPLDLDNSVDEYQFFTQALITVQSRDAAWYQLLMAPLSEDQRTALQEVYTLAEHRRTVAEAKKKIEQQGGFTFENKGVLSAFNFGTVPSNN", "length": 1037, "header": "sp|O15397-1|IPO8_HUMAN Isoform 1 of Importin-8 OS=Homo sapiens OX=9606 GN=IPO8 PE=1 SV=2 CANONICAL=O15397-1" }, "locus": { "chromosome": "12", "start_pos": 30695647, "end_pos": 30630863, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000256079.9", "url": "https://www.ensembl.org/id/ENST00000256079.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000256079.4", "url": "https://www.ensembl.org/id/ENSP00000256079.4" } ] } }, { "isoform_ac": "O15397-2", "url": "", "sequence": { "sequence": 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"12", "start_pos": 30676919, "end_pos": 30630863, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544829.5", "url": "https://www.ensembl.org/id/ENST00000544829.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000444520.1", "url": "https://www.ensembl.org/id/ENSP00000444520.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15397", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15397" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [ { 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"18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O15397", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15397" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "phospho.ELM", "id": "O15397", "url": "http://phospho.elm.eu.org/byAccession/O15397.html" } ], "site_lbl": "Ser903" }, { "start_pos": 908, "end_pos": 908, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15397", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15397" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr908" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Signal recognition particle protein 19 is imported into the nucleus by importin 8 (RanBP8) and transportin.", "journal": "Journal of cell science", "date": "2001-10", "authors": "Dean K A, von Ahsen O, G\u00f6rlich D, Fried H M", "evidence": [ { "database": "UniProtKB", "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397" } ], "reference": [ { "type": "PubMed", "id": "11682607", "url": "https://glygen.org/publication/PubMed/11682607" } ] }, { "title": "The GW182 protein colocalizes with mRNA degradation associated proteins hDcp1 and hLSm4 in cytoplasmic GW bodies.", "journal": "RNA (New York, N.Y.)", "date": "2003", "authors": "Eystathioy T, Jakymiw A, Chan EK, Seraphin B, Cougot N, Fritzler MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "13130130", "url": "https://glygen.org/publication/PubMed/13130130" } ] }, { "title": "Specific and potent RNAi in the nucleus of human cells.", "journal": "Nature structural & molecular biology", "date": "2005", "authors": "Robb GB, Brown KM, Khurana J, Rana TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "15643423", "url": "https://glygen.org/publication/PubMed/15643423" } ] }, { "title": "The antisense strand of small interfering RNAs directs histone methylation and transcriptional gene silencing in human cells.", "journal": "RNA (New York, N.Y.)", "date": "2006", "authors": "Weinberg MS, Villeneuve LM, Ehsani A, Amarzguioui M, Aagaard L, Chen ZX, Riggs AD, Rossi JJ, Morris KV", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "16373483", "url": "https://glygen.org/publication/PubMed/16373483" } ] }, { "title": "Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells.", "journal": "Nature structural & molecular biology", "date": "2006", "authors": "Kim DH, Villeneuve LM, Morris KV, Rossi JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "16936726", "url": "https://glygen.org/publication/PubMed/16936726" } ] }, { "title": "Small dsRNAs induce transcriptional activation in human cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Li LC, Okino ST, Zhao H, Pookot D, Place RF, Urakami S, Enokida H, Dahiya R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "17085592", "url": "https://glygen.org/publication/PubMed/17085592" } ] }, { "title": "MicroRNA-373 induces expression of genes with complementary promoter sequences.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Place RF, Li LC, Pookot D, Noonan EJ, Dahiya R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "18227514", "url": "https://glygen.org/publication/PubMed/18227514" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O15397-1", "url": 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Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "H0YH64", "url": "https://www.uniprot.org/uniprot/H0YH64" }, { "database": "iPTMnet", "id": "O15397-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15397-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Fluorescence correlation spectroscopy and fluorescence cross-correlation spectroscopy reveal the cytoplasmic origination of loaded nuclear RISC in vivo in human cells.", "journal": "Nucleic acids research", "date": "2008", "authors": "Ohrt T, Mutze J, Staroske W, Weinmann L, Hock J, Crell K, Meister G, Schwille P", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "18842624", "url": 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"type": "PubMed", "id": "18978028", "url": "https://glygen.org/publication/PubMed/18978028" } ] }, { "title": "Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs.", "journal": "Cell", "date": "2009", "authors": "Weinmann L, Hock J, Ivacevic T, Ohrt T, Mutze J, Schwille P, Kremmer E, Benes V, Urlaub H, Meister G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "19167051", "url": "https://glygen.org/publication/PubMed/19167051" } ] }, { "title": "The C-terminal domains of human TNRC6A, TNRC6B, and TNRC6C silence bound transcripts independently of Argonaute proteins.", "journal": "RNA (New York, N.Y.)", "date": "2009", "authors": "Lazzaretti D, Tournier I, Izaurralde E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": 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"https://glygen.org/publication/PubMed/19398495" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397" }, { "database": "iPTMnet", "id": "O15397", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15397" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "O15397", "url": "https://www.uniprot.org/uniprot/O15397" }, { "database": "iPTMnet", "id": "O15397", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15397" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Transcriptional gene silencing in mammalian cells by miRNA mimics that target gene promoters.", "journal": "Nucleic acids research", "date": "2011", "authors": "Younger ST, Corey DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "21427083", "url": "https://glygen.org/publication/PubMed/21427083" } ] }, { "title": "Transcriptional regulation by miRNA mimics that target sequences downstream of gene termini.", "journal": "Molecular bioSystems", "date": "2011", "authors": "Younger ST, Corey DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "21589992", "url": "https://glygen.org/publication/PubMed/21589992" } ] }, { "title": "Direct evidence of nuclear Argonaute distribution during transcriptional silencing links the actin cytoskeleton to nuclear RNAi machinery in human cells.", "journal": "Nucleic acids research", "date": "2012", "authors": "Ahlenstiel CL, Lim HG, Cooper DA, Ishida T, Kelleher AD, Suzuki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "22064859", "url": "https://glygen.org/publication/PubMed/22064859" } ] }, { "title": "A role for small RNAs in DNA double-strand break repair.", "journal": "Cell", "date": "2012", "authors": "Wei W, Ba Z, Gao M, Wu Y, Ma Y, Amiard S, White CI, Rendtlew Danielsen JM, Yang YG, Qi Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "22445173", "url": "https://glygen.org/publication/PubMed/22445173" } ] }, { "title": "Site-specific DICER and DROSHA RNA products control the DNA-damage response.", "journal": "Nature", "date": "2012", "authors": "Francia S, Michelini F, Saxena A, Tang D, de Hoon M, Anelli V, Mione M, Carninci P, d'Adda di Fagagna F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "22722852", "url": "https://glygen.org/publication/PubMed/22722852" } ] }, { "title": "Argonaute proteins couple chromatin silencing to alternative splicing.", "journal": "Nature structural & molecular biology", "date": "2012", "authors": "Ameyar-Zazoua M, Rachez C, Souidi M, Robin P, Fritsch L, Young R, Morozova N, Fenouil R, Descostes N, Andrau JC, Mathieu J, Hamiche A, Ait-Si-Ali S, Muchardt C, Batsche E, Harel-Bellan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "22961379", "url": "https://glygen.org/publication/PubMed/22961379" } ] }, { "title": "Human TNRC6A is an Argonaute-navigator protein for microRNA-mediated gene silencing in the nucleus.", "journal": "RNA (New York, N.Y.)", "date": "2013", "authors": "Nishi K, Nishi A, Nagasawa T, Ui-Tei K", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "23150874", "url": "https://glygen.org/publication/PubMed/23150874" } ] }, { "title": "The double-stranded RNA binding domain of human Dicer functions as a nuclear localization signal.", "journal": "RNA (New York, N.Y.)", "date": "2013", "authors": "Doyle M, Badertscher L, Jaskiewicz L, Guttinger S, Jurado S, Hugenschmidt T, Kutay U, Filipowicz W", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "23882114", "url": "https://glygen.org/publication/PubMed/23882114" } ] }, { "title": "Ago1 Interacts with RNA polymerase II and binds to the promoters of actively transcribed genes in human cancer cells.", "journal": "PLoS genetics", "date": "2013", "authors": "Huang V, Zheng J, Qi Z, Wang J, Place RF, Yu J, Li H, Li LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5578749", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578749" } ], "reference": [ { "type": "PubMed", "id": "24086155", "url": "https://glygen.org/publication/PubMed/24086155" } ] }, { "title": "RNAi factors are present and active in human cell nuclei.", "journal": "Cell reports", "date": "2014", "authors": "Gagnon KT, Li L, Chu Y, Janowski 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