{ "uniprot_canonical_ac": "O00541-1", "uniprot_ac": "O00541", "uniprot_id": "PESC_HUMAN", "mass": { "chemical_mass": 68003.0, "monoisotopic_mass": 68003.0 }, "refseq": { "ac": "NP_001230154", "name": "pescadillo homolog isoform 2", "summary": "This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, "gene_names": [ { "name": "PES1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00541", "id": "O00541" }, { "name": "NOP7; PES", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154", "id": "NP_001230154" }, { "name": "PES1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154", "id": "NP_001230154" }, { "name": "hCG_2010949", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00541", "id": "O00541" } ], "protein_names": [ { "name": "Pescadillo homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00541" }, { "name": "pescadillo homolog 1, containing BRCT domain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154", "id": "NP_001230154" }, { "name": "pescadillo homolog isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154", "id": "NP_001230154" } ], "function": [ { "annotation": "Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.", "evidence": [ { "database": "UniProtKB", "id": "B5MCF9", "url": "https://www.uniprot.org/uniprot/B5MCF9#function" }, { "database": "UniProtKB", "id": "MF_03028", "url": "https://www.uniprot.org/uniprot/MF_03028#function" }, { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541#function" }, { "database": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" }, { "database": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" }, { "database": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "annotation": "MicroRNA-1271 impedes the development of prostate cancer by downregulating PES1 and upregulating ERbeta. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, { "database": "PubMed", "id": "32448371", "url": "https://glygen.org/publication/PubMed/32448371" } ] }, { "annotation": "Overexpression of hepatic pescadillo 1 in obesity induces lipid dysregulation by inhibiting autophagy.", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, { "database": "PubMed", "id": "36775058", "url": "https://glygen.org/publication/PubMed/36775058" } ] }, { "annotation": "PES1 is a biomarker of head and neck squamous cell carcinoma and is associated with the tumor microenvironment.", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, { "database": "PubMed", "id": "37076985", "url": "https://glygen.org/publication/PubMed/37076985" } ] }, { "annotation": "Pescadillo might play a role in promoting the proliferation and carcinogenesis of human breast cancer, and thereby might be a potential target for human breast cancer treatment. Erratum:[Cancer Sci. 2021 Nov;112(11):4812. PMID: 34766426]", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, { "database": "PubMed", "id": "19764998", "url": "https://glygen.org/publication/PubMed/19764998" } ] }, { "annotation": "Pescadillo ribosomal biogenesis factor 1 reduction suppresses tumour growth and renders chemosensitivity of head and neck squamous cell carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" }, { "database": "PubMed", "id": "36217758", "url": "https://glygen.org/publication/PubMed/36217758" } ] }, { "annotation": "This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001230154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230154" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00541", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00541" } ], "glycoeffect": [], "start_pos": 411, "end_pos": 411, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "22", "chr_pos": "30579874", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A411", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 327, "end_pos": 327, "sequence_org": "F", "sequence_mut": "R", "comment": "Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA.", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "start_pos": 347, "end_pos": 347, "sequence_org": "I", "sequence_mut": "R", "comment": "Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA.", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "start_pos": 380, "end_pos": 380, "sequence_org": "R", "sequence_mut": "W", "comment": "Slightly impairs nucleolar localization.", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "start_pos": 397, "end_pos": 397, "sequence_org": "W", "sequence_mut": "R", "comment": "Reduces incorporation into the PeBoW complex and nucleolar localization and impairs maturation of 28S ribosomal RNA.", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "80.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "86.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "81.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100029", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100029" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": 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"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": "" 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"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 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"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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00541" } ], "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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"id": "ENSP00000384252.3", "url": "https://www.ensembl.org/id/ENSP00000384252.3" } ] } }, { "isoform_ac": "F6VXF5-1", "url": "", "sequence": { "sequence": "MCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKLAALSASLARVVVPATEEEAEVDEFPTDGEMSAQEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGEVSWDKSLCIGATYDVTDSRITHQIVDRPGQQTSVIGRCYVQPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGEDPGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKKPRVMAGTLKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE", "length": 449, "header": "tr|F6VXF5-1|PESC_HUMAN Computationally mapped isoform of Pescadillo homolog OS=Homo sapiens OX=9606 GN=PES1 PE=1 SV=1 CANONICAL=O00541-1" }, "locus": { "chromosome": "22", "start_pos": 30584668, "end_pos": 30577049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000405677.5", "url": "https://www.ensembl.org/id/ENST00000405677.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385654.1", "url": "https://www.ensembl.org/id/ENSP00000385654.1" } ] } }, { "isoform_ac": "H7BYY8-1", "url": "", "sequence": { "sequence": "MCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCME", "length": 135, "header": "tr|H7BYY8-1|PESC_HUMAN Computationally mapped isoform of Pescadillo homolog OS=Homo sapiens OX=9606 GN=PES1 PE=1 SV=2 CANONICAL=O00541-1" }, "locus": { "chromosome": "22", "start_pos": 30584668, "end_pos": 30581334, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000406208.7", "url": "https://www.ensembl.org/id/ENST00000406208.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384777.3", "url": "https://www.ensembl.org/id/ENSP00000384777.3" } ] } }, { "isoform_ac": "H7C267-1", "url": "", "sequence": { "sequence": "XPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGEDPGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKPRVMAGTLKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE", "length": 194, "header": "tr|H7C267-1|PESC_HUMAN Computationally mapped isoform of Pescadillo homolog OS=Homo sapiens OX=9606 GN=PES1 PE=1 SV=1 CANONICAL=O00541-1" }, "locus": { "chromosome": "22", "start_pos": 30579923, "end_pos": 30577047, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441668.5", "url": "https://www.ensembl.org/id/ENST00000441668.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404234.1", "url": "https://www.ensembl.org/id/ENSP00000404234.1" } ] } }, { "isoform_ac": "O00541-1", "url": "", "sequence": { "sequence": "MGGLEKKKYERGSATNYITRNKARKKLQLSLADFRRLCILKGIYPHEPKHKKKVNKGSTAARTFYLIKDIRFLLHEPIVNKFREYKVFVRKLRKAYGKSEWNTVERLKDNKPNYKLDHIIKERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKLAALSASLARVVVPATEEEAEVDEFPTDGEMSAQEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGEVSWDKSLCIGATYDVTDSRITHQIVDRPGQQTSVIGRCYVQPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGEDPGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKKPRVMAGTLKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE", "length": 588, "header": "sp|O00541-1|PESC_HUMAN Isoform 1 of Pescadillo homolog OS=Homo sapiens OX=9606 GN=PES1 PE=1 SV=1 CANONICAL=O00541-1" }, "locus": { "chromosome": "22", "start_pos": 30591833, "end_pos": 30577049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354694.12", "url": "https://www.ensembl.org/id/ENST00000354694.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000346725.6", "url": "https://www.ensembl.org/id/ENSP00000346725.6" } ] } }, { "isoform_ac": "O00541-2", "url": "", "sequence": { "sequence": "MGGLEKKKYERGSATNYITRNKARKKLQLSLADFRRLCILKGIYPHEPKHKKKVNKGSTAARTFYLIKDIRFLLHEPIVNKFREYKVFVRKLRKAYGKSEWNTVERLKDNKPNYKLDHIIKERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYIIAARALRKVFLSIKGIYYQAEVLGQPIVWITPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQLLNLHYPPKLEGQAQAEAKAGEGTYALDSESCMEKLAALSASLARVVVPATEEEAEVDEFPTDGEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGEVSWDKSLCIGATYDVTDSRITHQIVDRPGQQTSVIGRCYVQPQWVFDSVNARLLLPVAEYFSGVQLPPHLSPFVTEKEGDYVPPEKLKLLALQRGEDPGNLNESEEEEEEDDNNEGDGDEEGENEEEEEDAEAGSEKEEEARLAALEEQRMEGKKPRVMAGTLKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDEAVRSEKKAKKARPE", "length": 583, "header": "sp|O00541-2|PESC_HUMAN Isoform 2 of Pescadillo homolog OS=Homo sapiens OX=9606 GN=PES1 PE=1 SV=1 CANONICAL=O00541-1" }, "locus": { "chromosome": "22", "start_pos": 30591833, "end_pos": 30577049, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000335214.8", "url": "https://www.ensembl.org/id/ENST00000335214.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000334612.6", "url": "https://www.ensembl.org/id/ENSP00000334612.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00541", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00541" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Ser13" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" } ], "site_lbl": "Thr15" }, { "start_pos": 424, "end_pos": 424, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "31718704", "url": "https://glygen.org/publication/PubMed/31718704" } ], "site_lbl": "Ser424" }, { "start_pos": 457, "end_pos": 457, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00541", "url": "http://phospho.elm.eu.org/byAccession/O00541.html" } ], "site_lbl": "Ser457" }, { "start_pos": 488, "end_pos": 488, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00541", "url": "http://phospho.elm.eu.org/byAccession/O00541.html" } ], "site_lbl": "Ser488" }, { "start_pos": 548, "end_pos": 548, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "O00541", "url": "http://phospho.elm.eu.org/byAccession/O00541.html" } ], "site_lbl": "Tyr548" }, { "start_pos": 578, "end_pos": 578, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00541", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser578" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Pescadillo, a novel cell cycle regulatory protein abnormally expressed in malignant cells.", "journal": "J. Biol. Chem.", "date": "2001", "authors": "Kinoshita Y, Jarell AD, Flaman JM, Foltz G, Schuster J, Sopher BL, Irvin DK, Kanning K, Kornblum HI, Nelson PS, Hieter P, Morrison RS", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "reference": [ { "type": "PubMed", "id": "11071894", "url": "https://glygen.org/publication/PubMed/11071894" } ] }, { "title": "Isolation and proteomic characterization of the major proteins of the nucleolin-binding ribonucleoprotein complexes.", "journal": "Proteomics", "date": "2001", "authors": "Yanagida M, Shimamoto A, Nishikawa K, Furuichi Y, Isobe T, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "11922599", "url": "https://glygen.org/publication/PubMed/11922599" } ] }, { "title": "Yeast Pescadillo is required for multiple activities during 60S ribosomal subunit synthesis.", "journal": "RNA", "date": "2002", "authors": "Oeffinger M, Leung A, Lamond A, Tollervey D", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "reference": [ { "type": "PubMed", "id": "12022229", "url": "https://glygen.org/publication/PubMed/12022229" } ] }, { "title": "A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis.", "journal": "Nature", "date": "2002", "authors": "Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, Wehner KA, Wormsley S, Settlage RE, Shabanowitz J, Osheim Y, Beyer AL, Hunt DF, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12068309", "url": "https://glygen.org/publication/PubMed/12068309" } ] }, { "title": "90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors.", "journal": "Molecular cell", "date": "2002", "authors": "Grandi P, Rybin V, Bassler J, Petfalski E, Strauss D, Marzioch M, Schafer T, Kuster B, Tschochner H, Tollervey D, Gavin AC, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12150911", "url": "https://glygen.org/publication/PubMed/12150911" } ] }, { "title": "Functional proteomic analysis of human nucleolus.", "journal": "Mol. Biol. Cell", "date": "2002", "authors": "Scherl A, Coute Y, Deon C, Calle A, Kindbeiter K, Sanchez JC, Greco A, Hochstrasser D, Diaz JJ", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "reference": [ { "type": "PubMed", "id": "12429849", "url": "https://glygen.org/publication/PubMed/12429849" } ] }, { "title": "Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Rouquette J, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16037817", "url": "https://glygen.org/publication/PubMed/16037817" } ] }, { "title": "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.", "journal": "J. Cell Biol.", "date": "2005", "authors": "Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16043514", "url": "https://glygen.org/publication/PubMed/16043514" } ] }, { "title": "Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex.", "journal": "Nucleic acids research", "date": "2006", "authors": "Grimm T, Holzel M, Rohrmoser M, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" } ] }, { "title": "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Holzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "title": "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" }, { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "title": "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Schilders G, van Dijk E, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17412707", "url": "https://glygen.org/publication/PubMed/17412707" } ] }, { "title": "ISG20L2, a novel vertebrate nucleolar exoribonuclease involved in ribosome biogenesis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "Coute Y, Kindbeiter K, Belin S, Dieckmann R, Duret L, Bezin L, Sanchez JC, Diaz JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18065403", "url": "https://glygen.org/publication/PubMed/18065403" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "O00541-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ansel KM, Pastor WA, Rath N, Lapan AD, Glasmacher E, Wolf C, Smith LC, Papadopoulou N, Lamperti ED, Tahiliani M, Ellwart JW, Shi Y, Kremmer E, Rao A, Heissmeyer V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18438418", "url": "https://glygen.org/publication/PubMed/18438418" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00541-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00541-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Critical role of nucleostemin in pre-rRNA processing.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Romanova L, Grand A, Zhang L, Rayner S, Katoku-Kikyo N, Kellner S, Kikyo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19106111", "url": "https://glygen.org/publication/PubMed/19106111" } ] }, { "title": "A novel small-subunit processome assembly intermediate that contains the U3 snoRNP, nucleolin, RRP5, and DBP4.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Turner AJ, Knox AA, Prieto JL, McStay B, 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"https://www.oglcnac.mcw.edu/search/?query_protein=O00541" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Insertional mutagenesis in zebrafish identifies two novel genes, pescadillo and dead eye, essential for embryonic development.", "journal": "Genes Dev.", "date": "1996", "authors": "Allende M L, Amsterdam A, Becker T, Kawakami K, Gaiano N, Hopkins N", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "reference": [ { "type": "PubMed", "id": "8985183", "url": "https://glygen.org/publication/PubMed/8985183" } ] }, { "title": "Nucleolin functions in the first step of ribosomal RNA processing.", "journal": "The EMBO journal", "date": "1998", "authors": "Ginisty H, Amalric F, Bouvet P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "9482744", "url": "https://glygen.org/publication/PubMed/9482744" } ] } ], "pathway": [ { "id": "hsa:23481", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23481", "resource": "KEGG Pathway" }, { "id": "R-HSA-6791226", "name": "Major pathway of rRNA processing in the nucleolus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "resource": "Reactome", "description": "Major pathway of rRNA processing in the nucleolus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "P53261-1", "protein_name": "Pescadillo homolog", "gene_name": "NOP7", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MRIKKKNTRGNARNFITRSQAVRKLQVSLADFRRLCIFKGIYPREPRNKKKANKGSTAPTTFYYAKDIQYLMHEPVLAKFREHKTFARKLTRALGRGEVSSAKRLEENRDSYTLDHIIKERYPSFPDAIRDIDDALNMLFLFSNLPSTNQVSSKIINDAQKICNQWLAYVAKERLVRKVFVSIKGVYYQANIKGEEVRWLVPFKFPENIPSDVDFRIMLTFLEFYSTLLHFVLYKLYTDSGLIYPPKLDLKKDKIISGLSSYILESRQEDSLLKLDPTEIEEDVKVESLDASTLKSALNADEANTDETEKEEEQEKKQEKEQEKEQNEETELDTFEDNNKNKGDILIQPSKYDSPVASLFSAFVFYVSREVPIDILEFLILSCGGNVISEAAMDQIENKKDIDMSKVTHQIVDRPVLKNKVAGRTYIQPQWIFDCINKGELVPANKYLPGEALPPHLSPWGDAIGYDPTAPVEEGEEEESESESESEDQVEEEDQEVVAGEEDDDDDEELQAQKELELEAQGIKYSETSEADKDVNKSKNKKRKVDEEEEEKKLKMIMMSNKQKKLYKKMKYSNAKKEEQAENLKKKKKQIAKQKAKLNKLDSKK", "length": 605 }, "evidence": [ { "id": "O00541", "url": "https://omabrowser.org/oma/group/O00541/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q3B8N8-1", "protein_name": "Pescadillo homolog", "gene_name": "Pes1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGGLEKKKYERGSATNYITRNKARKKLQLSLPDFRRLCILKGIYPHEPKHKKKVNKGSTAARTFYLIKDIKFLLHEPIVNKFREYKVFVRKLRKAYGKSEWNAVERLKDNKPSYKLDHIVKERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQLCRRLTVEFMHYVIAARALRKVFLSIKGIYYQAEVLGQPIVWIAPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQSLNLHYPPKIESQAQAEMKVSEDTYALDSESSMEKLAALSASLARVVVPAVEEAEADEFPTDGEVTAQEEDRRKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGDVSWDKSLCIGATYDSTDSGITHQIVDRPGQQTPIIGRYYVQPQWVFDCVNARLLLPVAEYFPGVQLPPHLSPFVSEKEGDYIPPEKLKLLALQRGEDPGNLEEEEEDEDDEGDDSEGDGDVAVENEEEVVEAESEEEEEAHLSALEQQRLGGKKPQVMAGTVKLEDRQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDDAVRSEKKAKRTRPV", "length": 586 }, "evidence": [ { "id": "45917040", "url": "http://www.informatics.jax.org/homology/45917040", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9EQ61-1", "protein_name": "Pescadillo homolog", "gene_name": "Pes1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGGLEKKKYERGSATNYITRNKARKKLQLSLPDFRRLCILKGIYPHEPKHKKKVNKGSTAARTFYLIKDIKFLLHEPIVNKFREYKVFVRKLRKAYGKSEWNAVERLKDNKPCYKLDHIVKERYPTFIDALRDLDDALSMCFLFSTFPRTGKCHVQTIQLCRRLTVEFLHYVITARALRKVFLSIKGIYYQAEVLGQPIVWIAPYAFSHDHPTDVDYRVMATFTEFYTTLLGFVNFRLYQSLNLHYPPKLEGQAQAETKISEDTYALDSESSMEKLAALSASLARVVVPAIEEAEADEFPTDGEVTAQEEDRKKELEAQEKHKKLFEGLKFFLNREVPREALAFIIRSFGGDVSWDKSLCIGATYDVTDSCITHQIVDRPGQQTPIIGRYYVQPQWVFDCVNARLLLPVAEYFPGMQLPPHLSPFVSEKEGDYIPPEKLKLLALQRGEDPGHLEEEEEEDEDDDNEGDVAAENEEEDVEVESEEEEEEEVHLSALEQHRLEEKKPQVMAGTVKLEDKQRLAQEEESEAKRLAIMMMKKREKYLYQKIMFGKRRKIREANKLAEKRKAHDDAVRSEKKAKRTRPV", "length": 584 }, "evidence": [ { "id": "45917040", "url": "http://www.informatics.jax.org/homology/45917040", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VL96-1", "protein_name": "Pescadillo homolog", "gene_name": "", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MRRPKKYESGEATQYISRRAALRKLQLSLNDFRRLCILKGVYPREPKHRRRAQKGSSEIKVLYHTKDIRFLLHESIVWTLRDYKIFAKKSNRDRAIKDFRNLKRRLALFPEIKLDHIVKERYPTFIDALKDLDDCLTLLFLFSTFPSLHLIPREQSNLCRRLTIEFLHYVIASKSLRKVFISIKGYYFQAEIKGQKVTWIVPHYYPFKPQSRQEVDFKVMSIFVEFYTIMLGFTNFRLFHGLNLAYPPQFPSSVLQDSEESLKDEASFVSDRIAALNFELLRTDKVQEDEEELDIDMELLEQDGDSKRIIKMKQEAQEVSRLRTLFKGLKFFINREVPREPLVILIRSFGGKVSWDSSIFAGSTYDEGDETITHQIVDRPSITTQYISRDYIQPQWVFDCVNQRQLLPTNKYFIGETLPPHLSPFVDSKRDSYIPPEEKALLDPSLIETHAQSDDDSEDEAQEEEETVDQELLDAQLQLAYQQETAEYKKYGGPDGVNEDEEDPDDEDDNEDDDEEEEELDEKTKRLQEEKQKMSVQSGKVHKVNKRQVHKAEVDEHRLQARMVKPRHRNLFRKLIREKQTKEKEEWLLRKKRRTIEANEKEARKTAKREARKEAAAAAAKASKLGK", "length": 627 }, "evidence": [ { "id": "O00541", "url": "https://omabrowser.org/oma/group/O00541/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "preribosome, large subunit precursor", "id": "GO:0030687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030687", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "PeBoW complex", "id": "GO:0070545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070545", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "ribosome biogenesis", "id": "GO:0042254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042254", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "ribosomal large subunit biogenesis", "id": "GO:0042273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042273", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000463", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000466", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" }, { "name": "ribonucleoprotein complex binding", "id": "GO:0043021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043021", "evidence": [ { "database": "UniProtKB", "id": "O00541", "url": "https://www.uniprot.org/uniprot/O00541" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 455, "end_pos": 457, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 411 ], "glycation_sites": [], "phosphorylation_sites": [ 13, 15, 424, 457, 488, 548, 578 ], "sequon_annotation_sites": [ { "start_pos": 455, "end_pos": 457 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 58 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }