{ "uniprot_canonical_ac": "A4D1P6-1", "uniprot_ac": "A4D1P6", "uniprot_id": "WDR91_HUMAN", "mass": { "chemical_mass": 83344.0, "monoisotopic_mass": 83344.0 }, "refseq": { "ac": "NP_054868", "name": "WD repeat-containing protein 91 isoform 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868" }, "gene_names": [ { "name": "WDR91", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6" }, { "name": "HSPC049; SORF-1; SORF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "id": "NP_054868" }, { "name": "HSPC049", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A4D1P6", "id": "A4D1P6" }, { "name": "WDR91", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "id": "NP_054868" } ], "protein_names": [ { "name": "WD repeat-containing protein 91", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A4D1P6#names_and_taxonomy", "id": "A4D1P6" }, { "name": "WD repeat-containing protein 91 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "id": "NP_054868" }, { "name": "WD repeat-containing protein 91", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "id": "NP_054868" } ], "function": [ { "annotation": "Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6#function" }, { "database": "PubMed", "id": "Q7TMQ7", "url": "https://glygen.org/publication/PubMed/Q7TMQ7" }, { "database": "PubMed", "id": "26783301", "url": "https://glygen.org/publication/PubMed/26783301" }, { "database": "PubMed", "id": "27126989", "url": "https://glygen.org/publication/PubMed/27126989" } ] }, { "annotation": "Suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation", "evidence": [ { "database": "RefSeq", "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868" }, { "database": "PubMed", "id": "27126989", "url": "https://glygen.org/publication/PubMed/27126989" } ] }, { "annotation": "WDR91 serves as a Rab7 effector that is essential for neuronal development by facilitating endosome conversion in the endosome-lysosome pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868" }, { "database": "PubMed", "id": "28860274", "url": "https://glygen.org/publication/PubMed/28860274" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "A4D1P6", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1P6" } ], "glycoeffect": [], "start_pos": 241, "end_pos": 241, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "E", "sequence_mut": "G", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"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": "malignant tumor of the lung", "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": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", 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"url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "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": 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cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "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": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "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": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1P6" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "common_name": "Human" } ], "gene": [ { "name": "WDR91", "url": "https://www.uniprot.org/uniprot/A4D1P6", "locus": { "chromosome": "7", "start_pos": 135211534, "end_pos": 135183839, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000105875", "url": "https://www.ensembl.org/id/ENSG00000105875" } ] } } ], "crossref": [ { "id": "ENSG00000105875", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105875", "database": "Bgee" }, { "id": "A4D1P6", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1P6", "database": "BioMuta" }, { "id": "WDR91", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=WDR91", "database": "GeneCards" }, { "id": "29062", "url": "https://www.ncbi.nlm.nih.gov/gene/29062", "database": "GeneID" }, { "id": "24997", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=24997", "database": "HGNC" }, { "id": "A4D1P6", "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D1P6*", "database": "IntAct" }, { "id": "C9J1X0", "url": "https://www.ebi.ac.uk/intact/interactors/id:C9J1X0*", "database": "IntAct" }, { "id": "IPR001680", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "database": "InterPro" }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro" }, { "id": "IPR036322", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "database": "InterPro" }, { "id": "IPR039724", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039724", "database": "InterPro" }, { "id": "hsa:29062", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:29062", "database": "KEGG Pathway" }, { "id": "NX_A4D1P6", "url": "https://www.nextprot.org/entry/NX_A4D1P6", "database": "neXtProt" }, { "id": "VLFQCML", "url": "https://omabrowser.org/oma/group/VLFQCML/", "database": "OMA" }, { "id": "321271at2759", "url": "http://www.orthodb.org/?query=321271at2759", "database": "OrthoDB" }, { "id": "PTHR13083", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13083", "database": "PANTHER" }, { "id": "6VYC", "url": "https://www.rcsb.org/structure/6VYC", "database": "PDB" }, { "id": "PF00400", "url": "http://pfam.xfam.org/family/PF00400", "database": "Pfam" }, { "id": "A4D1P6", "url": "https://pharos.nih.gov/targets/A4D1P6", "database": "PHAROS" }, { "id": "PR_A4D1P6", "url": "http://purl.obolibrary.org/obo/PR_A4D1P6", "database": "PRO" }, { "id": "R-HSA-9013148", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148", "database": "Reactome" }, { "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "database": "RefSeq" }, { "id": "A0A804HHS8", "url": "https://www.uniprot.org/uniprot/A0A804HHS8", "database": "UniProtKB" }, { "id": "A0A804HHS8-1", "url": "https://www.uniprot.org/uniprot/A0A804HHS8-1", "database": "UniProtKB" }, { "id": "A0A804HI90", "url": "https://www.uniprot.org/uniprot/A0A804HI90", "database": "UniProtKB" }, { "id": "A0A804HI90-1", "url": "https://www.uniprot.org/uniprot/A0A804HI90-1", "database": "UniProtKB" }, { "id": "A0A804HJP3", "url": "https://www.uniprot.org/uniprot/A0A804HJP3", "database": "UniProtKB" }, { "id": "A0A804HJP3-1", "url": "https://www.uniprot.org/uniprot/A0A804HJP3-1", "database": "UniProtKB" }, { "id": "A0A804HKV2", "url": "https://www.uniprot.org/uniprot/A0A804HKV2", "database": "UniProtKB" }, { "id": "A0A804HKV2-1", "url": "https://www.uniprot.org/uniprot/A0A804HKV2-1", "database": "UniProtKB" }, { "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6", "database": "UniProtKB" }, { "id": "A4D1P6-1", "url": "https://www.uniprot.org/uniprot/A4D1P6-1", "database": "UniProtKB" }, { "id": "A4D1P6-2", "url": "https://www.uniprot.org/uniprot/A4D1P6-2", "database": "UniProtKB" }, { "id": "A4D1P6-3", "url": "https://www.uniprot.org/uniprot/A4D1P6-3", "database": "UniProtKB" }, { "id": "C9J1X0", "url": "https://www.uniprot.org/uniprot/C9J1X0", "database": "UniProtKB" }, { "id": "C9J1X0-1", "url": "https://www.uniprot.org/uniprot/C9J1X0-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA", "length": 747, "header": "sp|A4D1P6-1|WDR91_HUMAN Isoform 1 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1" }, "isoforms": [ { "isoform_ac": "A0A804HHS8-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#A0A804HHS8-1", "sequence": { "sequence": "MQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA", "length": 695, "header": "tr|A0A804HHS8-1|A0A804HHS8_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=4 SV=1 CANONICAL=A4D1P6-1" }, "locus": {} }, { "isoform_ac": "A0A804HI90-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#A0A804HI90-1", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQLLLFLPDTPD", "length": 360, "header": "tr|A0A804HI90-1|WDR91_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=1 CANONICAL=A4D1P6-1" }, "locus": {} }, { "isoform_ac": "A0A804HJP3-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#A0A804HJP3-1", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELPLTLWCVC", "length": 250, "header": "tr|A0A804HJP3-1|WDR91_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=1 CANONICAL=A4D1P6-1" }, "locus": {} }, { "isoform_ac": "A0A804HKV2-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#A0A804HKV2-1", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLNPVSCVQPQRGLFRLFGSSSEPHFPGGLLSTRHRQQGHEPGSWQAAAVGHENHEAAAPVLPGSRTHCYQLYSLQSQREPAGHRGS", "length": 550, "header": "tr|A0A804HKV2-1|WDR91_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=1 CANONICAL=A4D1P6-1" }, "locus": {} }, { "isoform_ac": "A4D1P6-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-1", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA", "length": 747, "header": "sp|A4D1P6-1|WDR91_HUMAN Isoform 1 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1" }, "locus": { "chromosome": "7", "start_pos": 135211502, "end_pos": 135186154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354475", "url": "https://www.ensembl.org/id/ENST00000354475" }, { "database": "Ensembl Peptide", "id": "ENSP00000346466", "url": "https://www.ensembl.org/id/ENSP00000346466" } ] } }, { "isoform_ac": "A4D1P6-2", "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-2", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFVHPVEHPQEWPQGIRVQPPLRCHGPLCAVWIQRLQAGSSPQGPTLRF", "length": 636, "header": "sp|A4D1P6-2|WDR91_HUMAN Isoform 2 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1" }, "locus": { "chromosome": "7", "start_pos": 135211502, "end_pos": 135187030, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000684339", "url": "https://www.ensembl.org/id/ENST00000684339" }, { "database": "Ensembl Peptide", "id": "ENSP00000508261", "url": "https://www.ensembl.org/id/ENSP00000508261" } ] } }, { "isoform_ac": "A4D1P6-3", "url": "https://www.uniprot.org/uniprot/A4D1P6#A4D1P6-3", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQVWGCPEHPWGHSCSY", "length": 365, "header": "sp|A4D1P6-3|WDR91_HUMAN Isoform 3 of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=2 CANONICAL=A4D1P6-1" }, "locus": {} }, { "isoform_ac": "C9J1X0-1", "url": "https://www.uniprot.org/uniprot/A4D1P6#C9J1X0-1", "sequence": { "sequence": "MIFHCEVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTIHKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIVSLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQPEEEEALVQHKLPPYVSNMDRLGDSELAMVCSQRNASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQPQSSAKKESFGGQGTKGKDPTSGAKDGKSLLSGLATGESGWSQHRQRRLQDHGKERKELFSTTTSQCAEKKPEASGPEAEPCPELHTEPVEPLTRASSAGPEGGGVRPEQPFIVLGQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDNMPRILSLACSPNGASFVCSAAAPSLTSQVDFSAPDIGSKGMNQVPGRLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWRAHYGEVYSVEFSYDENTVYSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGVIYKLGGDEKVLESCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKA", "length": 712, "header": "tr|C9J1X0-1|WDR91_HUMAN Computationally mapped isoform of WD repeat-containing protein 91 OS=Homo sapiens OX=9606 GN=WDR91 PE=1 SV=1 CANONICAL=A4D1P6-1" }, "locus": { "chromosome": "7", "start_pos": 135210850, "end_pos": 135186154, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000423565", "url": "https://www.ensembl.org/id/ENST00000423565" }, { "database": "Ensembl Peptide", "id": "ENSP00000392555", "url": "https://www.ensembl.org/id/ENSP00000392555" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 254, "end_pos": 254, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "A4D1P6", "url": "http://phospho.elm.eu.org/byAccession/A4D1P6.html" }, { "database": "iPTMnet", "id": "A4D1P6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "start_pos": 256, "end_pos": 256, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A4D1P6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6-1" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "iPTMnet", "id": "A4D1P6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6" } ] }, { "start_pos": 256, "end_pos": 256, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "Q6P1J9-1", "kinase_gene_name": "CDC73", "residue": "Ser", "comment": "", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "iPTMnet", "id": "A4D1P6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "start_pos": 288, "end_pos": 288, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "start_pos": 293, "end_pos": 293, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ] } ], "glycation": [], "keywords": [], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Ansorge W., Bauersachs S., Beyer A., Bloecker H., Blum H., Boecher M., Duesterhoeft A., Gassenhuber J., Glassl S., Heubner D., Klein M., Koehrer K., Korn B., Lauber J., Mewes H.-W., Obermaier B., Ottenwaelder B., Poustka A., Strack N., Tampe J., Wambutt R., Weil B., Wellenreuther R., Wiemann S.", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "A probability-based approach for high-throughput protein phosphorylation analysis and site localization.", "journal": "Nature biotechnology", "date": "2006", "authors": "Beausoleil SA, Villen J, Gerber SA, Rush J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "UniProtKB", "id": "C9J1X0", "url": "https://www.uniprot.org/uniprot/C9J1X0" }, { "database": "iPTMnet", "id": "A4D1P6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6-1" } ], "reference": [ { "type": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" } ] }, { "title": "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.", "journal": "Science (New York, N.Y.)", "date": "2007", "authors": "Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ", "evidence": [ { "database": "iPTMnet", "id": "A4D1P6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6" } ], "reference": [ { "type": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "A4D1P6-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6-1" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "iPTMnet", "id": "A4D1P6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A4D1P6" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion.", "journal": "J. Cell Biol.", "date": "2016", "authors": "Li Y., Liu X., Sun X., Xu J., Zhang Z., Yang C., Gao Z., Liu K., He S., Jian Y., Jing Y., Mitani S., Yang C.'", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "reference": [ { "type": "PubMed", "id": "26783301", "url": "https://glygen.org/publication/PubMed/26783301" } ] }, { "title": "A genetic screen identifies a critical role for the WDR81-WDR91 complex in the trafficking and degradation of tetherin.", "journal": "Traffic", "date": "2016", "authors": "Lehner P.J., Timms R.T., Davis L.J., Paul Luzio J., Rapiteanu R., Williamson J.C.", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" }, { "database": "RefSeq", "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868" } ], "reference": [ { "type": "PubMed", "id": "27126989", "url": "https://glygen.org/publication/PubMed/27126989" } ] }, { "title": "The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.", "journal": "J. Cell Biol.", "date": "2017", "authors": "Li Y., Liu X., Wang X., Luo S., Yang C., Gao Z., Liu K., Guo W., Tang C., Jian Y., Gan Q., Xing R.", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "reference": [ { "type": "PubMed", "id": "28404643", "url": "https://glygen.org/publication/PubMed/28404643" } ] }, { "title": "WDR91 is a Rab7 effector required for neuronal development.", "journal": "The Journal of cell biology", "date": "2017", "authors": "Liu K, Xing R, Jian Y, Gao Z, Ma X, Sun X, Li Y, Xu M, Wang X, Jing Y, Guo W, Yang C", "evidence": [ { "database": "RefSeq", "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868" } ], "reference": [ { "type": "PubMed", "id": "28860274", "url": "https://glygen.org/publication/PubMed/28860274" } ] } ], "pathway": [ { "id": "hsa:29062", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:29062", "resource": "KEGG Pathway" }, { "id": "R-HSA-9013148", "name": "CDC42 GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013148", "resource": "Reactome", "description": "CDC42 GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "B2RYI0-1", "protein_name": "WD repeat-containing protein 91", "gene_name": "Wdr91", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTINKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIISLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEVHRLKKEEQQQEEAAALVQHKLPPYVSSMDRLGDSELALVCSQRPASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQAQSSAKKDTFSSQATKGKDPVPGAKDGKSLLSGPVPGEASWTHQRQRRLQDHGKERRELLSTSSSQTQCAEKKLEGSGPEAELCLDLHMGPVEALARVSTAGSEGDRPEQPFIVLSQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDDMPRILSLACSPNGASFVCSAAAPSLTSQPDSSAPDIGSKGMNQVPGKLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHGCAMSWKAHCGEVYSVEFSYDENAVNSIGEDGKFIQWNIHKSGLKVSEYSLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGLIYKLGSEEKVLENCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKL", "length": 747 }, "evidence": [ { "id": "8562", "url": "http://www.informatics.jax.org/homology/8562", "database": "MGI" }, { "id": "A4D1P6", "url": "https://omabrowser.org/oma/group/A4D1P6/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7TMQ7-1", "protein_name": "WD repeat-containing protein 91", "gene_name": "Wdr91", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAEAVERTDELVREYLLFRGFTHTLRQLDAEIKADKEKGFRVDKIVDQLQQLMQVYDLAALRDYWSYLERRLFSRLEDIYRPTINKLKTSLFRFYLVYTIQTNRNDKAQEFFAKQATELQNQAEWKDWFVLPFLPSPDTNPTFATYFSRQWADTFIISLHNFLSVLFQCMPVPVILNFDAECQRTNQVQEENEVLRQKLFALQAEIHRLKKEEQQQEEEAAALVQHKLPPYVSSMDRLGDSELALVCSQRPASLSQSPRVGFLSSLLPQSKKSPSRLSPAQGPPQAQSSAKKDSFSSQATKGKDSVPGAKDGKSLLSGPVPGEASWTHQRQRRLQDHGKERRELLSTSSSQSQCAERKPEVSGAEAEPCLELHMGPVEVLARVSTAGSEGDRPEQPFIVLSQEEYGEHHSSIMHCRVDCSGRRVASLDVDGVIKVWSFNPIMQTKASSISKSPLLSLEWATKRDRLLLLGSGVGTVRLYDTEAKKNLCEININDDMPRILSLACSPNGASFVCSAAAPSLTSQTDSSAPDIGSKGMNQVPGKLLLWDTKTMKQQLQFSLDPEPIAINCTAFNHNGNLLVTGAADGVIRLFDMQQHECAMSWKAHCGEVYSVEFSCDENAVYSIGEDRKFIQWNIHKSGLKVSESNLPSDATGPFVLSGYSGYKQVQVPRGRLFAFDSEGNYMLTCSATGGLIYKLGSEEKVLENCLSLGGHRAPVVTVDWSTAMDCGTCLTASMDGKIKLTTLLAHKL", "length": 748 }, "evidence": [ { "id": "8562", "url": "http://www.informatics.jax.org/homology/8562", "database": "MGI" }, { "id": "A4D1P6", "url": "https://omabrowser.org/oma/group/A4D1P6/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "" }, { "name": "extrinsic component of endosome membrane", "id": "GO:0031313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031313", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "26783301" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "" }, { "name": "regulation of phosphatidylinositol 3-kinase activity", "id": "GO:0043551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043551", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "" }, { "name": "regulation of cellular protein catabolic process", "id": "GO:1903362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903362", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "27126989" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "phosphatidylinositol 3-kinase regulator activity", "id": "GO:0035014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035014", "evidence": [ { "database": "UniProtKB", "id": "A4D1P6", "url": "https://www.uniprot.org/uniprot/A4D1P6" } ], "pmid": "26783301" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 250, "end_pos": 252, "annotation": "n_glycosylation_sequon" }, { "start_pos": 566, "end_pos": 568, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ] }