{ "uniprot_canonical_ac": "A9QM74-1", "uniprot_ac": "A9QM74", "uniprot_id": "IMA8_HUMAN", "mass": { "chemical_mass": 56938.0, "monoisotopic_mass": 56938.0 }, "refseq": { "ac": "NP_001139187", "name": "importin subunit alpha-8", "summary": "The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, "gene_names": [ { "name": "KPNA7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A9QM74", "id": "A9QM74" }, { "name": "IPOA8; OZEMA17", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187", "id": "NP_001139187" }, { "name": "KPNA7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187", "id": "NP_001139187" } ], "protein_names": [ { "name": "Importin subunit alpha-8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A9QM74" }, { "name": "Karyopherin subunit alpha-7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A9QM74" }, { "name": "importin subunit alpha-8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187", "id": "NP_001139187" }, { "name": "karyopherin alpha 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187", "id": "NP_001139187" } ], "function": [ { "annotation": "An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "32179771", "url": "https://glygen.org/publication/PubMed/32179771" } ] }, { "annotation": "Functions in nuclear protein import.", "evidence": [ { "database": "UniProtKB", "id": "A9QM74", "url": "https://www.uniprot.org/uniprot/A9QM74#function" }, { "database": "PubMed", "id": "36647821", "url": "https://glygen.org/publication/PubMed/36647821" } ] }, { "annotation": "KPNA7 binding and nuclear transfer was validated for two proteins, MVP and ZNF414. MVP and ZNF414 have a key role in the regulation of pancreatic cancer cell growth.", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "27664836", "url": "https://glygen.org/publication/PubMed/27664836" } ] }, { "annotation": "KPNA7 has a critical role in the regulation of mitosis through the proper organization of the mitotic spindle and acts in the maintenance of the nuclear envelope structure and nuclear morphology. Erratum:[BMC Cancer. 2019 Jan 14;19(1):57. PMID: 30642282] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "29580221", "url": "https://glygen.org/publication/PubMed/29580221" } ] }, { "annotation": "KPNA7 silencing inhibits the malignant properties of pancreatic cancer cells in vitro and thereby provide the first evidence on the functional role for KPNA7 in human cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "24275456", "url": "https://glygen.org/publication/PubMed/24275456" } ] }, { "annotation": "KPNA7, an isoform with expression mostly limited to early development, can bind Importin-beta (Imp-beta) in the absence of NLS cargo.", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "31642884", "url": "https://glygen.org/publication/PubMed/31642884" } ] }, { "annotation": "Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor.", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" }, { "database": "PubMed", "id": "24045845", "url": "https://glygen.org/publication/PubMed/24045845" } ] }, { "annotation": "The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ] } ], "disease": [ { "disease_id": "MONDO:0957220", "recommended_name": { "id": "MONDO:0957220", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957220", "name": "oocyte/zygote/embryo maturation arrest 17", "description": "" }, "synonyms": [ { "id": "MIM:620319", "resource": "MIM", "url": "https://www.omim.org/entry/620319", "name": "Oocyte/zygote/embryo maturation arrest 17", "description": "Oocyte/zygote/embryo maturation arrest 17" } ], "evidence": [ { "id": "620319", "database": "MIM", "url": "https://www.omim.org/entry/620319" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "39.29", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "51.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "43.72", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "21.06", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "37.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "46.35", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "31.25", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000185467", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185467" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A9QM74", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A9QM74" } ], "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 Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A9QM74", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A9QM74" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A9QM74", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A9QM74" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "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 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"MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A9QM74", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A9QM74" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A9QM74" } ], "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 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"MPTLDAPEERRRKFKYRGKDVSLRRQQRMAVSLELRKAKKDEQTLKRRNITSFCPDTPSEKTAKGVAVSLTLGEIIKGVNSSDPVLCFQATQTARKMLSQEKNPPLKLVIEAGLIPRMVEFLKSSLYPCLQFEAAWALTNIASGTSEQTRAVVEGGAIQPLIELLSSSNVAVCEQAVWALGNIAGDGPEFRDNVITSNAIPHLLALISPTLPITFLRNITWTLSNLCRNKNPYPCDTAVKQILPALLHLLQHQDSEVLSDACWALSYLTDGSNKRIGQVVNTGVLPRLVVLMTSSELNVLTPSLRTVGNIVTGTDEQTQMAIDAGMLNVLPQLLQHNKPSIQKEAAWALSNVAAGPCHHIQQLLAYDVLPPLVALLKNGEFKVQKEAVWMVANFATGATMDQLIQLVHSGVLEPLVNLLTAPDVKIVLIILDVISCILQAAEKRSEKENLCLLIEELGGIDRIEALQLHENRQIGQSALNIIEKHFGEEEDESQTLLSQVIDQDYEFIDYECLAKK", "length": 516, "header": "sp|A9QM74-1|IMA8_HUMAN Isoform 1 of Importin subunit alpha-8 OS=Homo sapiens OX=9606 GN=KPNA7 PE=1 SV=1 CANONICAL=A9QM74-1" }, "locus": { "chromosome": "7", "start_pos": 99207466, "end_pos": 99173711, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000327442.7", "url": "https://www.ensembl.org/id/ENST00000327442.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000330878.6", "url": "https://www.ensembl.org/id/ENSP00000330878.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A9QM74", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A9QM74" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Influenza A virus NS1 protein targets poly(A)-binding protein II of the cellular 3'-end processing machinery.", "journal": "The EMBO journal", "date": "1999", "authors": "Chen Z, Li Y, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "10205180", "url": "https://glygen.org/publication/PubMed/10205180" } ] }, { "title": "Influenza virus NS1 protein counteracts PKR-mediated inhibition of replication.", "journal": "Journal of virology", "date": "2000", "authors": "Bergmann M, Garcia-Sastre A, Carnero E, Pehamberger H, Wolff K, Palese P, Muster T", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "10846107", "url": "https://glygen.org/publication/PubMed/10846107" } ] }, { "title": "A PPxY motif within the VP40 protein of Ebola virus interacts physically and functionally with a ubiquitin ligase: implications for filovirus budding.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Harty RN, Brown ME, Wang G, Huibregtse J, Hayes FP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11095724", "url": "https://glygen.org/publication/PubMed/11095724" } ] }, { "title": "Ubiquitination of HIV-1 and MuLV Gag.", "journal": "Virology", "date": "2000", "authors": "Ott DE, Coren LV, Chertova EN, Gagliardi TD, Schubert U", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11112487", "url": "https://glygen.org/publication/PubMed/11112487" } ] }, { "title": "Influenza B virus NS1 protein inhibits conjugation of the interferon (IFN)-induced ubiquitin-like ISG15 protein.", "journal": "The EMBO journal", "date": "2001", "authors": "Yuan W, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11157743", "url": "https://glygen.org/publication/PubMed/11157743" } ] }, { "title": "UBP43 (USP18) specifically removes ISG15 from conjugated proteins.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Malakhov MP, Malakhova OA, Kim KI, Ritchie KJ, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "11788588", "url": "https://glygen.org/publication/PubMed/11788588" } ] }, { "title": "Overlapping motifs (PTAP and PPEY) within the Ebola virus VP40 protein function independently as late budding domains: involvement of host proteins TSG101 and VPS-4.", "journal": "Journal of virology", "date": "2003", "authors": "Licata JM, Simpson-Holley M, Wright NT, Han Z, Paragas J, Harty RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "12525615", "url": "https://glygen.org/publication/PubMed/12525615" } ] }, { "title": "High-throughput immunoblotting. Ubiquitiin-like protein ISG15 modifies key regulators of signal transduction.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Malakhov MP, Kim KI, Malakhova OA, Jacobs BS, Borden EC, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "12582176", "url": "https://glygen.org/publication/PubMed/12582176" } ] }, { "title": "The UbcH8 ubiquitin E2 enzyme is also the E2 enzyme for ISG15, an IFN-alpha/beta-induced ubiquitin-like protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Zhao C, Beaudenon SL, Kelley ML, Waddell MB, Yuan W, Schulman BA, Huibregtse JM, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15131269", "url": "https://glygen.org/publication/PubMed/15131269" } ] }, { "title": "Interferon-inducible ubiquitin E2, Ubc8, is a conjugating enzyme for protein ISGylation.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Kim KI, Giannakopoulos NV, Virgin HW, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15485925", "url": "https://glygen.org/publication/PubMed/15485925" } ] }, { "title": "An unconventional NLS is critical for the nuclear import of the influenza A virus nucleoprotein and ribonucleoprotein.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2005", "authors": "Cros JF, Garcia-Sastre A, Palese P", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "15702989", "url": "https://glygen.org/publication/PubMed/15702989" } ] }, { "title": "Human ISG15 conjugation targets both IFN-induced and constitutively expressed proteins functioning in diverse cellular pathways.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2005", "authors": "Zhao C, Denison C, Huibregtse JM, Gygi S, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16009940", "url": "https://glygen.org/publication/PubMed/16009940" } ] }, { "title": "ISG15 modification of Ubc13 suppresses its ubiquitin-conjugating activity.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Takeuchi T, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16112642", "url": "https://glygen.org/publication/PubMed/16112642" } ] }, { "title": "ISG15 modification of ubiquitin E2 Ubc13 disrupts its ability to form thioester bond with ubiquitin.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Zou W, Papov V, Malakhova O, Kim KI, Dao C, Li J, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16122702", "url": "https://glygen.org/publication/PubMed/16122702" } ] }, { "title": "Proteomic identification of proteins conjugated to ISG15 in mouse and human cells.", "journal": "Biochemical and biophysical research communications", "date": "2005", "authors": "Giannakopoulos NV, Luo JK, Papov V, Zou W, Lenschow DJ, Jacobs BS, Borden EC, Li J, Virgin HW, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16139798", "url": "https://glygen.org/publication/PubMed/16139798" } ] }, { "title": "The interferon-inducible ubiquitin-protein isopeptide ligase (E3) EFP also functions as an ISG15 E3 ligase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Zou W, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16352599", "url": "https://glygen.org/publication/PubMed/16352599" } ] }, { "title": "Herc5, an interferon-induced HECT E3 enzyme, is required for conjugation of ISG15 in human cells.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Dastur A, Beaudenon S, Kelley M, Krug RM, Huibregtse JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16407192", "url": "https://glygen.org/publication/PubMed/16407192" } ] }, { "title": "Link between the ubiquitin conjugation system and the ISG15 conjugation system: ISG15 conjugation to the UbcH6 ubiquitin E2 enzyme.", "journal": "Journal of biochemistry", "date": "2005", "authors": "Takeuchi T, Iwahara S, Saeki Y, Sasajima H, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16428300", "url": "https://glygen.org/publication/PubMed/16428300" } ] }, { "title": "Negative regulation of interferon-regulatory factor 3-dependent innate antiviral response by the prolyl isomerase Pin1.", "journal": "Nature immunology", "date": "2006", "authors": "Saitoh T, Tun-Kyi A, Ryo A, Yamamoto M, Finn G, Fujita T, Akira S, Yamamoto N, Lu KP, Yamaoka S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16699525", "url": "https://glygen.org/publication/PubMed/16699525" } ] }, { "title": "Pin-ning down immune responses to RNA viruses.", "journal": "Nature immunology", "date": "2006", "authors": "Goutagny N, Severa M, Fitzgerald KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16715065", "url": "https://glygen.org/publication/PubMed/16715065" } ] }, { "title": "Cumulative mutations of ubiquitin acceptor sites in human immunodeficiency virus type 1 gag cause a late budding defect.", "journal": "Journal of virology", "date": "2006", "authors": "Gottwein E, Jager S, Habermann A, Krausslich HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16775314", "url": "https://glygen.org/publication/PubMed/16775314" } ] }, { "title": "HERC5 is an IFN-induced HECT-type E3 protein ligase that mediates type I IFN-induced ISGylation of protein targets.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Wong JJ, Pung YF, Sze NS, Chin KC", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16815975", "url": "https://glygen.org/publication/PubMed/16815975" } ] }, { "title": "Negative regulation of protein phosphatase 2Cbeta by ISG15 conjugation.", "journal": "FEBS letters", "date": "2006", "authors": "Takeuchi T, Kobayashi T, Tamura S, Yokosawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16872604", "url": "https://glygen.org/publication/PubMed/16872604" } ] }, { "title": "ISG15 enhances the innate antiviral response by inhibition of IRF-3 degradation.", "journal": "Cellular and molecular biology (Noisy-le-Grand, France)", "date": "2006", "authors": "Lu G, Reinert JT, Pitha-Rowe I, Okumura A, Kellum M, Knobeloch KP, Hassel B, Pitha PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "16914094", "url": "https://glygen.org/publication/PubMed/16914094" } ] }, { "title": "ISG15 modification of the eIF4E cognate 4EHP enhances cap structure-binding activity of 4EHP.", "journal": "Genes & development", "date": "2007", "authors": "Okumura F, Zou W, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "17289916", "url": "https://glygen.org/publication/PubMed/17289916" } ] }, { "title": "Nuclear and nucleolar targeting of influenza A virus NS1 protein: striking differences between different virus subtypes.", "journal": "Journal of virology", "date": "2007", "authors": "Melen K, Kinnunen L, Fagerlund R, Ikonen N, Twu KY, Krug RM, Julkunen I", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "17376915", "url": "https://glygen.org/publication/PubMed/17376915" } ] }, { "title": "ISG15 inhibits Nedd4 ubiquitin E3 activity and enhances the innate antiviral response.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Malakhova OA, Zhang DE", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18287095", "url": "https://glygen.org/publication/PubMed/18287095" } ] }, { "title": "ISG15 inhibits Ebola VP40 VLP budding in an L-domain-dependent manner by blocking Nedd4 ligase activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Okumura A, Pitha PM, Harty RN", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18305167", "url": "https://glygen.org/publication/PubMed/18305167" } ] }, { "title": "The basis for selective E1-E2 interactions in the ISG15 conjugation system.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Durfee LA, Kelley ML, Huibregtse JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "18583345", "url": "https://glygen.org/publication/PubMed/18583345" } ] }, { "title": "ISG15 Arg151 and the ISG15-conjugating enzyme UbE1L are important for innate immune control of Sindbis virus.", "journal": "Journal of virology", "date": "2009", "authors": "Giannakopoulos NV, Arutyunova E, Lai C, Lenschow DJ, Haas AL, Virgin HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19073728", "url": "https://glygen.org/publication/PubMed/19073728" } ] }, { "title": "Inhibition of IRF3-dependent antiviral responses by cellular and viral proteins.", "journal": "Cell research", "date": "2009", "authors": "Tsuchida T, Kawai T, Akira S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19125153", "url": "https://glygen.org/publication/PubMed/19125153" } ] }, { "title": "ISG15 modification of filamin B negatively regulates the type I interferon-induced JNK signalling pathway.", "journal": "EMBO reports", "date": "2009", "authors": "Jeon YJ, Choi JS, Lee JY, Yu KR, Kim SM, Ka SH, Oh KH, Kim KI, Zhang DE, Bang OS, Chung CH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "19270716", "url": "https://glygen.org/publication/PubMed/19270716" } ] }, { "title": "ISG15 conjugation system targets the viral NS1 protein in influenza A virus-infected cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Zhao C, Hsiang TY, Kuo RL, Krug RM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20133869", "url": "https://glygen.org/publication/PubMed/20133869" } ] }, { "title": "Species-specific antagonism of host ISGylation by the influenza B virus NS1 protein.", "journal": "Journal of virology", "date": "2010", "authors": "Versteeg GA, Hale BG, van Boheemen S, Wolff T, Lenschow DJ, Garcia-Sastre A", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20219937", "url": "https://glygen.org/publication/PubMed/20219937" } ] }, { "title": "Positive regulation of interferon regulatory factor 3 activation by Herc5 via ISG15 modification.", "journal": "Molecular and cellular biology", "date": "2010", "authors": "Shi HX, Yang K, Liu X, Liu XY, Wei B, Shan YF, Zhu LH, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20308324", "url": "https://glygen.org/publication/PubMed/20308324" } ] }, { "title": "Herc5 attenuates influenza A virus by catalyzing ISGylation of viral NS1 protein.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2010", "authors": "Tang Y, Zhong G, Zhu L, Liu X, Shan Y, Feng H, Bu Z, Chen H, Wang C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": "PubMed", "id": "20385878", "url": "https://glygen.org/publication/PubMed/20385878" } ] }, { "title": "Karyopherin alpha7 (KPNA7), a divergent member of the importin alpha family of nuclear import receptors.", "journal": "BMC Cell Biol.", "date": "2010", "authors": "Kelley JB, Talley AM, Spencer A, Gioeli D, Paschal BM", "evidence": [ { "database": "UniProtKB", "id": "A9QM74", "url": "https://www.uniprot.org/uniprot/A9QM74" } ], "reference": [ { "type": "PubMed", "id": "20701745", "url": "https://glygen.org/publication/PubMed/20701745" } ] }, { "title": "GlcNAcylation of histone H2B facilitates its monoubiquitination.", "journal": "Nature", "date": "2011", "authors": "Fujiki R, Hashiba W, Sekine H, Yokoyama A, Chikanishi T, Ito S, Imai Y, Kim J, He HH, Igarashi K, Kanno J, Ohtake F, Kitagawa H, Roeder RG, Brown M, Kato S", "evidence": [ { "database": "O-GlcNAc Database", "id": "A9QM74", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A9QM74" } ], "reference": [ { "type": "PubMed", "id": "22121020", "url": "https://glygen.org/publication/PubMed/22121020" } ] }, { "title": "Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.", "journal": "European journal of human genetics : EJHG", "date": "2014", "authors": "Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "24045845", "url": "https://glygen.org/publication/PubMed/24045845" } ] }, { "title": "KPNA7, a nuclear transport receptor, promotes malignant properties of pancreatic cancer cells in vitro.", "journal": "Experimental cell research", "date": "2014", "authors": "Laurila E, Vuorinen E, Savinainen K, Rauhala H, Kallioniemi A", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "24275456", "url": "https://glygen.org/publication/PubMed/24275456" } ] }, { "title": "Search for KPNA7 cargo proteins in human cells reveals MVP and ZNF414 as novel regulators of cancer cell growth.", "journal": "Biochimica et biophysica acta. Molecular basis of disease", "date": "2017", "authors": "Vuorinen EM, Rajala NK, Rauhala HE, Nurminen AT, Hytonen VP, Kallioniemi A", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "27664836", "url": "https://glygen.org/publication/PubMed/27664836" } ] }, { "title": "Depletion of nuclear import protein karyopherin alpha 7 (KPNA7) induces mitotic defects and deformation of nuclei in cancer cells.", "journal": "BMC cancer", "date": "2018", "authors": "Vuorinen EM, Rajala NK, Ihalainen TO, Kallioniemi A", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "29580221", "url": "https://glygen.org/publication/PubMed/29580221" } ] }, { "title": "Characterization of the Importin-beta binding domain in nuclear import receptor KPNA7.", "journal": "The Biochemical journal", "date": "2019", "authors": "Oostdyk LT, McConnell MJ, Paschal BM", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "31642884", "url": "https://glygen.org/publication/PubMed/31642884" } ] }, { "title": "An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding.", "journal": "Scientific reports", "date": "2020", "authors": "Oostdyk LT, Wang Z, Zang C, Li H, McConnell MJ, Paschal BM", "evidence": [ { "database": "RefSeq", "id": "NP_001139187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139187" } ], "reference": [ { "type": "PubMed", "id": "32179771", "url": "https://glygen.org/publication/PubMed/32179771" } ] }, { "title": "Karyopherin \u03b1 deficiency contributes to human preimplantation embryo arrest.", "journal": "The Journal of clinical investigation", "date": "2023-01-17", "authors": "Wang Wenjing, Miyamoto Yoichi, Chen Biaobang, Shi Juanzi, Diao Feiyang, Zheng Wei, Li Qun, Yu Lan, Li Lin, Xu Yao, Wu Ling, Mao Xiaoyan, Fu Jing, Li Bin, Yan Zheng, Shi Rong, Xue Xia, Mu Jian, Zhang Zhihua, Wu Tianyu, Zhao Lin, Wang Weijie, Zhou Zhou, Dong Jie, Li Qiaoli, Jin Li, He Lin, Sun Xiaoxi, Lin Ge, Kuang Yanping, Wang Lei, Sang Qing", "evidence": [ { "database": "UniProtKB", "id": "A9QM74", "url": "https://www.uniprot.org/uniprot/A9QM74" } ], "reference": [ { "type": "PubMed", "id": "36647821", "url": "https://glygen.org/publication/PubMed/36647821" } ] }, { "title": "Nuclear import of influenza virus RNA can be mediated by viral nucleoprotein and transport factors required for protein import.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "O'Neill RE, Jaskunas R, Blobel G, Palese P, Moroianu J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1169408", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1169408" } ], "reference": [ { "type": 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