{ "uniprot_canonical_ac": "O00629-1", "uniprot_ac": "O00629", "uniprot_id": "IMA3_HUMAN", "mass": { "chemical_mass": 57887.0, "monoisotopic_mass": 57887.0 }, "refseq": { "ac": "NP_002259", "name": "importin subunit alpha-3", "summary": "The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" }, "gene_names": [ { "name": "KPNA4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00629", "id": "O00629" }, { "name": "IPOA3; QIP1; SRP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259", "id": "NP_002259" }, { "name": "KPNA4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259", "id": "NP_002259" }, { "name": "QIP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00629", "id": "O00629" } ], "protein_names": [ { "name": "Importin subunit alpha-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00629" }, { "name": "Importin alpha Q1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00629" }, { "name": "Karyopherin subunit alpha-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00629" }, { "name": "Qip1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00629" }, { "name": "importin subunit alpha-3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259", "id": "NP_002259" }, { "name": "importin subunit alpha-4; importin alpha Q1; karyopherin alpha 4 (importin alpha 3)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259", "id": "NP_002259" } ], "function": [ { "annotation": "Circular RNA hsa_circ_0008003 promotes the progression of non-small-cell lung cancer by sponging miR-548I and regulating KPNA4 expression.", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" }, { "database": "PubMed", "id": "36573325", "url": "https://glygen.org/publication/PubMed/36573325" } ] }, { "annotation": "Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. 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. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS.", "evidence": [ { "database": "UniProtKB", "id": "O00629", "url": "https://www.uniprot.org/uniprot/O00629#function" } ] }, { "annotation": "Functions in nuclear protein import.", "evidence": [ { "database": "UniProtKB", "id": "A0A7I2V340", "url": "https://www.uniprot.org/uniprot/A0A7I2V340#function" }, { "database": "UniProtKB", "id": "PIRNR005673", "url": "https://www.uniprot.org/uniprot/PIRNR005673#function" }, { "database": "UniProtKB", "id": "H7C4F6", "url": "https://www.uniprot.org/uniprot/H7C4F6#function" }, { "database": "UniProtKB", "id": "A0A7I2YQ95", "url": "https://www.uniprot.org/uniprot/A0A7I2YQ95#function" } ] }, { "annotation": "Ginsenoside Rg3 inhibits osteosarcoma progression by reducing circ_0003074 expression in a miR-516b-5p/KPNA4-dependent manner. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" }, { "database": "PubMed", "id": "34930332", "url": "https://glygen.org/publication/PubMed/34930332" } ] }, { "annotation": "The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" } ] }, { "annotation": "The nuclear localization sequence of the epigenetic factor RYBP binds to human importin alpha3.", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" }, { "database": "PubMed", "id": "33945888", "url": "https://glygen.org/publication/PubMed/33945888" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "84.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "72.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "82.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000186432", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000186432" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00629", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00629" } ], "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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00629", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00629" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "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": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00629", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00629" } ], "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": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "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": "O00629", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00629" } ], "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. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00629", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00629" } ], "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": 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"A0A7I2V340", "url": "https://www.uniprot.org/uniprot/A0A7I2V340", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V340-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V340-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5X0", "url": "https://www.uniprot.org/uniprot/A0A7I2V5X0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5X0-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5X0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQ95", "url": "https://www.uniprot.org/uniprot/A0A7I2YQ95", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2YQ95-1", "url": "https://www.uniprot.org/uniprot/A0A7I2YQ95-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4F6", "url": "https://www.uniprot.org/uniprot/H7C4F6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C4F6-1", "url": "https://www.uniprot.org/uniprot/H7C4F6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00629", "url": "https://www.uniprot.org/uniprot/O00629", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00629-1", "url": "https://www.uniprot.org/uniprot/O00629-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNILVDTVWALSYLTDAGNEQIQMVIDSGIVPHLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDALSHFPALLTHPKEKINKEAVWFLSNITAGNQQQVQAVIDANLVPMIIHLLDKGDFGTQKEAAWAISNLTISGRKDQVAYLIQQNVIPPFCNLLTVKDAQVVQVVLDGLSNILKMAEDEAETIGNLIEECGGLEKIEQLQNHENEDIYKLAYEIIDQFFSSDDIDEDPSLVPEAIQGGTFGFNSSANVPTEGFQF", "length": 521, "header": "sp|O00629-1|IMA3_HUMAN Isoform 1 of Importin subunit alpha-3 OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V333-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNMAEEKATQGV", "length": 267, "header": "tr|A0A7I2V333-1|A0A7I2V333_HUMAN Computationally mapped isoform of Karyopherin subunit alpha 4 OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160525103, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676958.1", "url": "https://www.ensembl.org/id/ENST00000676958.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503083.1", "url": "https://www.ensembl.org/id/ENSP00000503083.1" } ] } }, { "isoform_ac": "A0A7I2V340-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNILVDTVWALSYLTDAGNEQIQMVIDSGIVPHLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDALSHFPALLTHPKEKINKEAVWFLSNITAGNQQQVQAVIDANLVPMIIHLLDKVAYLIQQNVIPPFCNLLTVKDAQVVQVVLDGLSNILKMAEDEAETIGNLIEECGGLEKIEQLQNHENEDIYKLAYEIIDQFFSSDDIDEDPSLVPEAIQGGTFGFNSSANVPTEGFQF", "length": 497, "header": "tr|A0A7I2V340-1|IMA3_HUMAN Computationally mapped isoform of Importin subunit alpha-3 OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160502107, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000676866.1", "url": "https://www.ensembl.org/id/ENST00000676866.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503291.1", "url": "https://www.ensembl.org/id/ENSP00000503291.1" } ] } }, { "isoform_ac": "A0A7I2V5X0-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLEDNFSVEKNTPGVRGHPGDPNSAFQRPVFYSGYS", "length": 56, "header": "tr|A0A7I2V5X0-1|A0A7I2V5X0_HUMAN Computationally mapped isoform of Karyopherin subunit alpha 4 OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160564542, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678630.1", "url": "https://www.ensembl.org/id/ENST00000678630.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504510.1", "url": "https://www.ensembl.org/id/ENSP00000504510.1" } ] } }, { "isoform_ac": "A0A7I2YQ95-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNTAALRAVGNIVTGTDEQTQVVLNCDALSHFPALLTHPKEKINKEAVWFLSNITAGNQQQVQAVIDANLVPMIIHLLDKGDFGTQKEAAWAISNLTISGRKDQVAYLIQQNVIPPFCNLLTVKDAQVVQVVLDGLSNILKMAEDEAETIGNLIEECGGLEKIEQLQNHENEDIYKLAYEIIDQFFSSDDIDEDPSLVPEAIQGGTFGFNSSANVPTEGFQF", "length": 477, "header": "tr|A0A7I2YQ95-1|A0A7I2YQ95_HUMAN Computationally mapped isoform of Importin subunit alpha OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160502107, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000678765.1", "url": "https://www.ensembl.org/id/ENST00000678765.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000503064.1", "url": "https://www.ensembl.org/id/ENSP00000503064.1" } ] } }, { "isoform_ac": "H7C4F6-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNILVDTVWALSYLTDAGNEQIQMVIDSGIVPHLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDALSHFPALLTHPKEKINKEAVWFLSNITAGNQQQVQAVIDANLVPMIIHLLDKGDFGTQKEAAWAISNLTISGRKDQVAYLIQQNVIPPFCNLLTVKDAQVVQVVLDGLSNILKMAEDEAETIGNLIEECGGLEKIEQLQNHENEDIYKLAYEIIDQFFSSDDTGPRLECIGAVTAHCNLPLPGSD", "length": 512, "header": "tr|H7C4F6-1|H7C4F6_HUMAN Computationally mapped isoform of Importin subunit alpha OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=2 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160502201, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483437.2", "url": "https://www.ensembl.org/id/ENST00000483437.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000417172.2", "url": "https://www.ensembl.org/id/ENSP00000417172.2" } ] } }, { "isoform_ac": "O00629-1", "url": "", "sequence": { "sequence": "MADNEKLDNQRLKNFKNKGRDLETMRRQRNEVVVELRKNKRDEHLLKRRNVPHEDICEDSDIDGDYRVQNTSLEAIVQNASSDNQGIQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVHCLERDDNPSLQFEAAWALTNIASGTSEQTQAVVQSNAVPLFLRLLHSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVMVNLCRHKDPPPPMETIQEILPALCVLIHHTDVNILVDTVWALSYLTDAGNEQIQMVIDSGIVPHLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDALSHFPALLTHPKEKINKEAVWFLSNITAGNQQQVQAVIDANLVPMIIHLLDKGDFGTQKEAAWAISNLTISGRKDQVAYLIQQNVIPPFCNLLTVKDAQVVQVVLDGLSNILKMAEDEAETIGNLIEECGGLEKIEQLQNHENEDIYKLAYEIIDQFFSSDDIDEDPSLVPEAIQGGTFGFNSSANVPTEGFQF", "length": 521, "header": "sp|O00629-1|IMA3_HUMAN Isoform 1 of Importin subunit alpha-3 OS=Homo sapiens OX=9606 GN=KPNA4 PE=1 SV=1 CANONICAL=O00629-1" }, "locus": { "chromosome": "3", "start_pos": 160565282, "end_pos": 160502107, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000334256.9", "url": "https://www.ensembl.org/id/ENST00000334256.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000334373.4", "url": "https://www.ensembl.org/id/ENSP00000334373.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00629", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00629" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "22121020", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22121020" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 60, "end_pos": 60, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00629", "url": "https://www.uniprot.org/uniprot/O00629" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "O00629", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00629" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00629", "url": "http://phospho.elm.eu.org/byAccession/O00629.html" }, { "database": "PubMed", "id": "31822798", "url": "https://glygen.org/publication/PubMed/31822798" } ], "site_lbl": "Ser60" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00629", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00629" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00629", "url": "http://phospho.elm.eu.org/byAccession/O00629.html" } ], "site_lbl": "Tyr66" }, { "start_pos": 71, "end_pos": 71, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00629", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00629" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr71" } ], "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": "A nonconventional nuclear localization signal within the UL84 protein of human cytomegalovirus mediates nuclear import via the importin alpha/beta pathway.", "journal": "J. Virol.", "date": "2003", "authors": "Lischka P, Sorg G, Kann M, Winkler M, Stamminger T", "evidence": [ { "database": "UniProtKB", "id": "O00629", "url": "https://www.uniprot.org/uniprot/O00629" } ], "reference": [ { "type": "PubMed", "id": "12610148", "url": "https://glygen.org/publication/PubMed/12610148" } ] }, { "title": "Proteomic characterization of the human centrosome by protein correlation profiling.", "journal": "Nature", "date": "2003", "authors": "Andersen Jens S, Wilkinson Christopher J, Mayor Thibault, Mortensen Peter, Nigg Erich A, Mann Matthias", "evidence": [ { "database": "UniProtKB", "id": "O00629", "url": "https://www.uniprot.org/uniprot/O00629" } ], "reference": [ { "type": "PubMed", "id": "14654843", "url": "https://glygen.org/publication/PubMed/14654843" } ] }, { "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 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General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00629", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00629" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Ginsenoside Rg3 inhibits osteosarcoma progression by reducing circ_0003074 expression in a miR-516b-5p/KPNA4-dependent manner.", "journal": "Journal of orthopaedic surgery and research", "date": "2021", "authors": "Wang T, Zhang C, Wang S", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" } ], "reference": [ { "type": "PubMed", "id": "34930332", "url": "https://glygen.org/publication/PubMed/34930332" } ] }, { "title": "Circular RNA hsa_circ_0008003 promotes the progression of non-small-cell lung cancer by sponging miR-548I and regulating KPNA4 expression.", "journal": "Thoracic cancer", "date": "2022-12-27", "authors": "Yang Wenshu, Yao Yingying, Yang Shuai, Ke Yaoqi", "evidence": [ { "database": "RefSeq", "id": "NP_002259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002259" } ], "reference": [ { "type": "PubMed", "id": "36573325", "url": "https://glygen.org/publication/PubMed/36573325" } ] }, { "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": "PubMed", "id": "7559393", "url": "https://glygen.org/publication/PubMed/7559393" } ] }, { "title": "Influenza virus NS1 protein inhibits pre-mRNA splicing and blocks mRNA nucleocytoplasmic transport.", "journal": "The EMBO journal", "date": "1994", "authors": "Fortes P, Beloso A, Ortin J", "evidence": [ { "database": "Reactome", "id": "R-HSA-168276", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-168276" } ], "reference": [ { "type": "PubMed", "id": "8313914", "url": "https://glygen.org/publication/PubMed/8313914" } ] }, { "title": "Cloning of a cDNA encoding a novel importin-alpha homologue, Qip1: discrimination of Qip1 and Rch1 from hSrp1 by their ability to interact with DNA helicase Q1/RecQL.", "journal": "Biochem. 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