{ "uniprot_canonical_ac": "P0C2W1-1", "uniprot_ac": "P0C2W1", "uniprot_id": "FBSP1_HUMAN", "mass": { "chemical_mass": 30633.0, "monoisotopic_mass": 30633.0 }, "refseq": { "ac": "NP_001099043", "name": "F-box/SPRY domain-containing protein 1", "summary": "Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, "gene_names": [ { "name": "FBXO45", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C2W1", "id": "P0C2W1" }, { "name": "FBX45", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C2W1", "id": "P0C2W1" }, { "name": "FBXO45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043", "id": "NP_001099043" }, { "name": "Fbx45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043", "id": "NP_001099043" } ], "protein_names": [ { "name": "F-box/SPRY domain-containing protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C2W1" }, { "name": "F-box only protein 45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C2W1" }, { "name": "F-box/SPRY domain-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043", "id": "NP_001099043" }, { "name": "hFbxo45; F-box only protein 45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043", "id": "NP_001099043" }, { "name": "hFbxo45", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C2W1" } ], "function": [ { "annotation": "Component of E3 ubiquitin ligase complex consisting of FBXO45, MYCBP2 and SKP1 (PubMed:29997255). Functions in substrate recognition but plays also an important role in assembly of the complex (PubMed:29997255). Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Regulates neuron migration during brain development through interaction with N-cadherin/CDH2 after secretion via a non-classical mechanism (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation. Polyubiquitinates NMNAT2, an adenylyltransferase that acts as an axon maintenance factor, and regulates its stability and degradation by the proteasome (PubMed:29997255). Acts also by ubiquitinating FBXW7 during prolonged mitotic arrest and promotes FBXW7 proteasomal degradation (PubMed:31285543). Induces subsequently an increase in mitotic slippage and prevents mitotic cell death (PubMed:31285543). In response to influenza infection, mediates interferon-lambda receptor IFNLR1 polyubiquitination and degradation through the ubiquitin-proteasome system by docking with its intracellular receptor domain (PubMed:36379255).", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1#function" }, { "database": "PubMed", "id": "19581926", "url": "https://glygen.org/publication/PubMed/19581926" }, { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprot/P0CH38#function" }, { "database": "PubMed", "id": "31285543", "url": "https://glygen.org/publication/PubMed/31285543" }, { "database": "UniProtKB", "id": "Q8K3B1", "url": "https://www.uniprot.org/uniprot/Q8K3B1#function" }, { "database": "PubMed", "id": "36379255", "url": "https://glygen.org/publication/PubMed/36379255" }, { "database": "PubMed", "id": "29997255", "url": "https://glygen.org/publication/PubMed/29997255" } ] }, { "annotation": "DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "33966034", "url": "https://glygen.org/publication/PubMed/33966034" } ] }, { "annotation": "Elevated FBXO45 promotes liver tumorigenesis through enhancing IGF2BP1 ubiquitination and subsequent PLK1 upregulation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "34779401", "url": "https://glygen.org/publication/PubMed/34779401" } ] }, { "annotation": "FBXO45 gene consisting of 3 exons, and the vicinity of the transcriptional start site had several estrogen receptor binding consensus sequences.", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "16012741", "url": "https://glygen.org/publication/PubMed/16012741" } ] }, { "annotation": "FBXO45 promotes the proteasome-dependent degradation of p73.", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "19581926", "url": "https://glygen.org/publication/PubMed/19581926" } ] }, { "annotation": "Fbxo45 facilitates pancreatic carcinoma progression by targeting USP49 for ubiquitination and degradation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "35279684", "url": "https://glygen.org/publication/PubMed/35279684" } ] }, { "annotation": "Fbxo45 is the substrate-receptor subunit of a functional E3 ligase for Par-4 that has a critical role in cancer cell survival.", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "24992930", "url": "https://glygen.org/publication/PubMed/24992930" } ] }, { "annotation": "Fbxo45-mediated NP-STEP46 degradation via K6-linked ubiquitination sustains ERK activity in lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "35838331", "url": "https://glygen.org/publication/PubMed/35838331" } ] }, { "annotation": "Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ] }, { "annotation": "MiR-30a-5p hampers proliferation of lung squamous cell carcinoma through targeting FBXO45.", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "35098525", "url": "https://glygen.org/publication/PubMed/35098525" } ] }, { "annotation": "Study found that the R108C mutation in FBXO45 is a rare variant with a modest effect on schizophrenia risk that may disrupt the structure and function of the FBXO45 protein", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" }, { "database": "PubMed", "id": "24878430", "url": "https://glygen.org/publication/PubMed/24878430" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "81.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "75.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "74.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "75.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000174013", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000174013" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0C2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C2W1" } ], "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 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"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, 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P0C2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C2W1" } ], "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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0C2W1", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C2W1" } ], "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/P0C2W1" } ], "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C2W1" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12937", "url": "http://pfam.xfam.org/family/PF12937", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P0C2W1", "url": "https://pharos.nih.gov/targets/P0C2W1", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P0C2W1", "url": "http://purl.obolibrary.org/obo/PR_P0C2W1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "C9JLC0", "url": "https://www.uniprot.org/uniprot/C9JLC0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JLC0-1", "url": "https://www.uniprot.org/uniprot/C9JLC0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0C2W1-1", "url": "https://www.uniprot.org/uniprot/P0C2W1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPAPGAGAASGGAGCSGGGAGAGAGSGSGAAGAGGRLPSRVLELVFSYLELSELRSCALVCKHWYRCLHGDENSEVWRSLCARSLAEEALRTDILCNLPSYKAKIRAFQHAFSTNDCSRNVYIKKNGFTLHRNPIAQSTDGARTKIGFSEGRHAWEVWWEGPLGTVAVIGIATKRAPMQCQGYVALLGSDDQSWGWNLVDNNLLHNGEVNGSFPQCNNAPKYQIGERIRVILDMEDKTLAFERGYEFLGVAFRGLPKVCLYPAVSAVYGNTEVTLVYLGKPLDG", "length": 286, "header": "sp|P0C2W1-1|FBSP1_HUMAN Isoform 1 of F-box/SPRY domain-containing protein 1 OS=Homo sapiens OX=9606 GN=FBXO45 PE=1 SV=1 CANONICAL=P0C2W1-1" }, "isoforms": [ { "isoform_ac": "C9JLC0-1", "url": "", "sequence": { "sequence": "MQCQGYVALLGSDDQSWGWNLVDNNLLHNGEVNGSFPQCNNAPKYQIGERIRVILDMEDKTLAFERGYEFLGVAFRGLPKVCLYPAVSAVYGNTEVTLVYLGKPLDG", "length": 107, "header": "tr|C9JLC0-1|C9JLC0_HUMAN Computationally mapped isoform of F-box protein 45 OS=Homo sapiens OX=9606 GN=FBXO45 PE=1 SV=1 CANONICAL=P0C2W1-1" }, "locus": { "chromosome": "3", "start_pos": 196584315, "end_pos": 196577672, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440469.1", "url": "https://www.ensembl.org/id/ENST00000440469.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389868.1", "url": "https://www.ensembl.org/id/ENSP00000389868.1" } ] } }, { "isoform_ac": "P0C2W1-1", "url": "", "sequence": { "sequence": "MAAPAPGAGAASGGAGCSGGGAGAGAGSGSGAAGAGGRLPSRVLELVFSYLELSELRSCALVCKHWYRCLHGDENSEVWRSLCARSLAEEALRTDILCNLPSYKAKIRAFQHAFSTNDCSRNVYIKKNGFTLHRNPIAQSTDGARTKIGFSEGRHAWEVWWEGPLGTVAVIGIATKRAPMQCQGYVALLGSDDQSWGWNLVDNNLLHNGEVNGSFPQCNNAPKYQIGERIRVILDMEDKTLAFERGYEFLGVAFRGLPKVCLYPAVSAVYGNTEVTLVYLGKPLDG", "length": 286, "header": "sp|P0C2W1-1|FBSP1_HUMAN Isoform 1 of F-box/SPRY domain-containing protein 1 OS=Homo sapiens OX=9606 GN=FBXO45 PE=1 SV=1 CANONICAL=P0C2W1-1" }, "locus": { "chromosome": "3", "start_pos": 196584315, "end_pos": 196568985, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000311630.7", "url": "https://www.ensembl.org/id/ENST00000311630.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000310332.6", "url": "https://www.ensembl.org/id/ENSP00000310332.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P0C2W1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0C2W1" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Systematic analysis and nomenclature of mammalian F-box proteins.", "journal": "Genes Dev.", "date": "2004", "authors": "Elledge S.J., Jin J., Lovering R.C., Harper J.W., Pagano M., Cardozo T.", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "15520277", "url": "https://glygen.org/publication/PubMed/15520277" } ] }, { "title": "Characterization of estrogen-induced F-box protein FBXO45.", "journal": "Oncology reports", "date": "2005", "authors": "Yoshida K", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "16012741", "url": "https://glygen.org/publication/PubMed/16012741" } ] }, { "title": "The F-box protein FBXO45 promotes the proteasome-dependent degradation of p73.", "journal": "Oncogene", "date": "2009", "authors": "Peschiaroli A, Scialpi F, Bernassola F, Pagano M, Melino G", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" }, { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "19581926", "url": "https://glygen.org/publication/PubMed/19581926" } ] }, { "title": "Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia.", "journal": "Schizophrenia research", "date": "2014", "authors": "Wang C, Koide T, Kimura H, Kunimoto S, Yoshimi A, Nakamura Y, Kushima I, Banno M, Kawano N, Takasaki Y, Xing J, Noda Y, Mouri A, Aleksic B, Ikeda M, Okada T, Iidaka T, Inada T, Iwata N, Ozaki N", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "24878430", "url": "https://glygen.org/publication/PubMed/24878430" } ] }, { "title": "Fbxo45-mediated degradation of the tumor-suppressor Par-4 regulates cancer cell survival.", "journal": "Cell death and differentiation", "date": "2014", "authors": "Chen X, Sahasrabuddhe AA, Szankasi P, Chung F, Basrur V, Rangnekar VM, Pagano M, Lim MS, Elenitoba-Johnson KS", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "24992930", "url": "https://glygen.org/publication/PubMed/24992930" } ] }, { "title": "Hey bHLH Proteins Interact with a FBXO45 Containing SCF Ubiquitin Ligase Complex and Induce Its Translocation into the Nucleus.", "journal": "PLoS ONE", "date": "2015", "authors": "Urlaub H., Gessler M., Winkler A., Salat D.", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "26068074", "url": "https://glygen.org/publication/PubMed/26068074" } ] }, { "title": "PAM forms an atypical SCF ubiquitin ligase complex that ubiquitinates and degrades NMNAT2.", "journal": "J. Biol. Chem.", "date": "2018", "authors": "Desbois M, Crawley O, Evans PR, Baker ST, Masuho I, Yasuda R, Grill B", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "29997255", "url": "https://glygen.org/publication/PubMed/29997255" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "P0C2W1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "FBXO45-MYCBP2 regulates mitotic cell fate by targeting FBXW7 for degradation.", "journal": "Cell Death Differ.", "date": "2020", "authors": "Richter KT, Kschonsak YT, Vodicska B, Hoffmann I", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "31285543", "url": "https://glygen.org/publication/PubMed/31285543" } ] }, { "title": "DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.", "journal": "Cell death & disease", "date": "2021", "authors": "Kim HY, Kim YM, Hong S", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "33966034", "url": "https://glygen.org/publication/PubMed/33966034" } ] }, { "title": "Elevated FBXO45 promotes liver tumorigenesis through enhancing IGF2BP1 ubiquitination and subsequent PLK1 upregulation.", "journal": "eLife", "date": "2021", "authors": "Lin XT, Yu HQ, Fang L, Tan Y, Liu ZY, Wu D, Zhang J, Xiong HJ, Xie CM", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "34779401", "url": "https://glygen.org/publication/PubMed/34779401" } ] }, { "title": "MiR-30a-5p hampers proliferation of lung squamous cell carcinoma through targeting FBXO45.", "journal": "Histology and histopathology", "date": "2022", "authors": "Zeng F, You S, Dai X", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "35098525", "url": "https://glygen.org/publication/PubMed/35098525" } ] }, { "title": "Fbxo45 facilitates pancreatic carcinoma progression by targeting USP49 for ubiquitination and degradation.", "journal": "Cell death & disease", "date": "2022", "authors": "Wu L, Yu K, Chen K, Zhu X, Yang Z, Wang Q, Gao J, Wang Y, Cao T, Xu H, Pan X, Wang L, Xia J, Li Y, Wang ZP, Ma J", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "35279684", "url": "https://glygen.org/publication/PubMed/35279684" } ] }, { "title": "Fbxo45-mediated NP-STEP(46) degradation via K6-linked ubiquitination sustains ERK activity in lung cancer.", "journal": "Molecular oncology", "date": "2022", "authors": "Wang Q, Xu C, Cai R, An W, Yuan H, Xu M", "evidence": [ { "database": "RefSeq", "id": "NP_001099043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099043" } ], "reference": [ { "type": "PubMed", "id": "35838331", "url": "https://glygen.org/publication/PubMed/35838331" } ] }, { "title": "The E3 ligase subunit FBXO45 binds the interferon-lambda receptor and promotes its degradation during influenza virus infection.", "journal": "J. Biol. Chem.", "date": "2022", "authors": "Tsai MuChun, Osman Wissam, Adair Jessica, ElMergawy Rabab, Chafin Lexie, Johns Finny, Farkas Daniela, Elhance Ajit, Londino James, Mallampalli Rama K", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "reference": [ { "type": "PubMed", "id": "36379255", "url": "https://glygen.org/publication/PubMed/36379255" } ] } ], "pathway": [ { "id": "hsa:200933", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:200933", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8K3B1-1", "protein_name": "F-box/SPRY domain-containing protein 1", "gene_name": "Fbxo45", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAPGPGAGAASGGASGGGAGAGGGASAGSGSSGVGGRLPSRVLELVFSYLELSELRSCALVCKHWYRCLHGDENSEVWRSLCARSLAEEALRTDILCNLPSYKAKVRAFQHAFSTNDCSRNVYIKKNGFTLHRNPIAQSTDGARTKIGFSEGRHAWEVWWEGPLGTVAVIGIATKRAPMQCQGYVALLGSDDQSWGWNLVDNNLLHNGEVNGSFPQCNNAPKYQIGERIRVILDMEDKTLAFERGYEFLGVAFRGLPKACLYPAVSAVYGNTEVTLVYLGKPLDG", "length": 286 }, "evidence": [ { "id": "45237131", "url": "http://www.informatics.jax.org/homology/45237131", "database": "MGI" }, { "id": "P0C2W1", "url": "https://omabrowser.org/oma/group/P0C2W1/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9V6L9-1", "protein_name": "F-box/SPRY domain-containing protein 1", "gene_name": "Fsn", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MVDPVAALCNYNVLEVIFSYLELDDLSHCSQVCKSWYHFLNDENSDVWRWHCLNKLPKESLKSDLLASVSTYKTKLRAYFHAWSPNDCSRNVYIKPNGFTLHRNPVAQSTDAARGKIGFRHGRHTWEVIWEGPLGTVAVIGISTKEAALQCHGYVALLGSDDQSWGWNLVENHLLHNGDMQGSYPLLNNAPKYQVGERIRVILDCEDNTLSFEKNYEFLGVAFRGLPDKKLYPTVSAVYGNTEVSMVYLGTPLDG", "length": 255 }, "evidence": [ { "id": "P0C2W1", "url": "https://omabrowser.org/oma/group/P0C2W1/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 12, "go_terms": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "SCF ubiquitin ligase complex", "id": "GO:0019005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019005", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "cerebral cortex radially oriented cell migration", "id": "GO:0021799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021799", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "cerebral cortex tangential migration", "id": "GO:0021800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021800", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "corticospinal tract morphogenesis", "id": "GO:0021957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021957", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "anterior commissure morphogenesis", "id": "GO:0021960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021960", "evidence": [ { "database": "UniProtKB", "id": "P0C2W1", "url": "https://www.uniprot.org/uniprot/P0C2W1" } ], "pmid": "" }, { "name": "synapse assembly involved in innervation", "id": "GO:0060386", 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