{ "uniprot_canonical_ac": "Q6P2H3-1", "uniprot_ac": "Q6P2H3", "uniprot_id": "CEP85_HUMAN", "mass": { "chemical_mass": 85639.0, "monoisotopic_mass": 85639.0 }, "refseq": { "ac": "NP_001268446", "name": "centrosomal protein of 85 kDa isoform 2", "summary": "This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" }, "gene_names": [ { "name": "CEP85", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6P2H3", "id": "Q6P2H3" }, { "name": "CCDC21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446", "id": "NP_001268446" }, { "name": "CCDC21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6P2H3", "id": "Q6P2H3" }, { "name": "CEP85", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446", "id": "NP_001268446" } ], "protein_names": [ { "name": "Centrosomal protein of 85 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6P2H3" }, { "name": "Cep85", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6P2H3" }, { "name": "Coiled-coil domain-containing protein 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6P2H3" }, { "name": "centrosomal protein of 85 kDa isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446", "id": "NP_001268446" }, { "name": "centrosomal protein of 85 kDa; coiled-coil domain-containing protein 21; centrosomal protein 85kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446", "id": "NP_001268446" } ], "function": [ { "annotation": "Acts as a negative regulator of NEK2 to maintain the centrosome integrity in interphase. Suppresses centrosome disjunction by inhibiting NEK2 kinase activity (PubMed:26220856).", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3#function" }, { "database": "PubMed", "id": "26220856", "url": "https://glygen.org/publication/PubMed/26220856" } ] }, { "annotation": "Cep85 is a bona fide Nek2A-binding partner that surrounds the proximal ends of centrioles where it cooperates with PP1gamma (also known as PPP1CC) to antagonize Nek2A Erratum:[J Cell Sci. 2015 Oct 15;128(20):3837. PMID: 26471995]", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" }, { "database": "PubMed", "id": "26220856", "url": "https://glygen.org/publication/PubMed/26220856" } ] }, { "annotation": "Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" }, { "database": "PubMed", "id": "29712910", "url": "https://glygen.org/publication/PubMed/29712910" } ] }, { "annotation": "Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" }, { "database": "PubMed", "id": "32107292", "url": "https://glygen.org/publication/PubMed/32107292" } ] }, { "annotation": "This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs371437850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371437850" }, { "id": "rs371437850", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371437850" }, { "id": "rs371437850", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371437850#frequency_tab" }, { "id": "rs371437850", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371437850" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 16, "end_pos": 16, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "26239829", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T16", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q6P2H3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6P2H3" }, { "id": "rs3795686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3795686" }, { "id": "rs3795686", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3795686" }, { "id": "rs3795686", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3795686" }, { "id": "rs3795686", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs3795686#frequency_tab" }, { "id": "rs3795686", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs3795686" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 213, "end_pos": 213, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "1", "chr_pos": "26255600", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S213", "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": "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, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "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": 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}, { "evidence": [ { "id": "Q6P2H3", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q6P2H3" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 476, "end_pos": 476, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (IET->NET).", "chr_id": "1", "chr_pos": "26268568", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I476", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": 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disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q6P2H3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6P2H3" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q6P2H3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6P2H3" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q6P2H3", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6P2H3" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"categories": [ "3D Structure" ] }, { "id": "5OID", "url": "https://www.rcsb.org/structure/5OID", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "Q6P2H3", "url": "https://pharos.nih.gov/targets/Q6P2H3", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q6P2H3", "url": "http://purl.obolibrary.org/obo/PR_Q6P2H3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "H7BZW2", "url": "https://www.uniprot.org/uniprot/H7BZW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZW2-1", "url": "https://www.uniprot.org/uniprot/H7BZW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P2H3-1", "url": "https://www.uniprot.org/uniprot/Q6P2H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P2H3-2", "url": "https://www.uniprot.org/uniprot/Q6P2H3-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P2H3-3", "url": "https://www.uniprot.org/uniprot/Q6P2H3-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6P2H3-4", "url": "https://www.uniprot.org/uniprot/Q6P2H3-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAMQEKYPTEGISHVTSPSSDVIQKGSSLGTEWQTPVISEPFRSRFSRCSSVADSGDTAIGTSCSDIAEDFCSSSGSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMYFSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEAKKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSAQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 762, "header": "sp|Q6P2H3-1|CEP85_HUMAN Isoform 1 of Centrosomal protein of 85 kDa OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "isoforms": [ { "isoform_ac": "H7BZW2-1", "url": "", "sequence": { "sequence": "XSILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 435, "header": "tr|H7BZW2-1|H7BZW2_HUMAN Computationally mapped isoform of Centrosomal protein 85 OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "locus": { "chromosome": "1", "start_pos": 26277291, "end_pos": 26257673, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453146.1", "url": "https://www.ensembl.org/id/ENST00000453146.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391790.1", "url": "https://www.ensembl.org/id/ENSP00000391790.1" } ] } }, { "isoform_ac": "Q6P2H3-1", "url": "", "sequence": { "sequence": "MAMQEKYPTEGISHVTSPSSDVIQKGSSLGTEWQTPVISEPFRSRFSRCSSVADSGDTAIGTSCSDIAEDFCSSSGSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMYFSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEAKKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSAQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 762, "header": "sp|Q6P2H3-1|CEP85_HUMAN Isoform 1 of Centrosomal protein of 85 kDa OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "locus": { "chromosome": "1", "start_pos": 26277290, "end_pos": 26239784, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252992.8", "url": "https://www.ensembl.org/id/ENST00000252992.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000252992.4", "url": "https://www.ensembl.org/id/ENSP00000252992.4" } ] } }, { "isoform_ac": "Q6P2H3-2", "url": "", "sequence": { "sequence": "MAMQEKYPTEGISHVTSPSSDVIQKGSSLGTEWQTPVISEPFRSRFSRCSSVADSGDTAIGTSCSDIAEDFCSSSGSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMYFSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEAKKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 761, "header": "sp|Q6P2H3-2|CEP85_HUMAN Isoform 2 of Centrosomal protein of 85 kDa OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "locus": { "chromosome": "1", "start_pos": 26277290, "end_pos": 26239784, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451429.8", "url": "https://www.ensembl.org/id/ENST00000451429.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000417002.3", "url": "https://www.ensembl.org/id/ENSP00000417002.3" } ] } }, { "isoform_ac": "Q6P2H3-3", "url": "", "sequence": { "sequence": "MESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSAQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 194, "header": "sp|Q6P2H3-3|CEP85_HUMAN Isoform 3 of Centrosomal protein of 85 kDa OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "locus": {} }, { "isoform_ac": "Q6P2H3-4", "url": "", "sequence": { "sequence": "MAMQEKYPTEGISHVTSPNFCSSSGSPPFQPIKSHVTIPTAHVMPSTLGTSPAKPNSTPVGPSSSKLPLSGLAESVGMTRNGDLGAMKHSPGLSRDLMYFSGATGENGIEQSWFPAVGHERQEEARKFDIPSMESTLNQSAMMETLYSDPHHRVRFHNPRTSTSKELYRVLPEAKKAPGSGAVFERNGPHSNSSGVLPLGLQPAPGLSKPLPSQVWQPSPDTWHPREQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFGPSLPILEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSREKIDLEKKLSASEVEVQLIRESLKVALQKHSEEVKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQSQQLKDSELKSTELQEKVTELESLLEETQAICREKEIQLESLRQREAEFSSAGHSLQDKQSVEETSGEGPEVEMESWQKRYDSLQKIVEKQQQKMDQLRSQVQSLEQEVAQEEGTSQALREEAQRRDSALQQLRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSPPSPDTAQLALELHQELASCLQDLQAVCSIVTQRAQGHDPNLSLLLGIHSAQHPETQLDLQKPDVIKRKLEEVQQLRRDIEDLRTTMSDRYAQDMGENCVTQ", "length": 711, "header": "sp|Q6P2H3-4|CEP85_HUMAN Isoform 4 of Centrosomal protein of 85 kDa OS=Homo sapiens OX=9606 GN=CEP85 PE=1 SV=1 CANONICAL=Q6P2H3-1" }, "locus": { "chromosome": "1", "start_pos": 26277290, "end_pos": 26239784, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640292.2", "url": "https://www.ensembl.org/id/ENST00000640292.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000492362.2", "url": "https://www.ensembl.org/id/ENSP00000492362.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 16, "start_aa": "Thr", "end_pos": 16, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr16", "evidence": [ { "id": "Q6P2H3", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6P2H3" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q6P2H3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P2H3" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" } ] } ], "phosphorylation": [ { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" } ], "site_lbl": "Ser126" }, { "start_pos": 141, "end_pos": 141, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser141" }, { "start_pos": 16, "end_pos": 16, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q6P2H3", "url": "http://phospho.elm.eu.org/byAccession/Q6P2H3.html" } ], "site_lbl": "Thr16" }, { "start_pos": 17, "end_pos": 17, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q6P2H3", "url": "http://phospho.elm.eu.org/byAccession/Q6P2H3.html" } ], "site_lbl": "Ser17" }, { "start_pos": 576, "end_pos": 576, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Tyr576" }, { "start_pos": 578, "end_pos": 578, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Ser578" }, { "start_pos": 623, "end_pos": 623, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" } ], "site_lbl": "Ser623" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "iPTMnet", "id": "Q6P2H3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "Q6P2H3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "iPTMnet", "id": "Q6P2H3-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.", "journal": "EMBO J.", "date": "2011", "authors": "Nigg E.A., Lundberg E., Uhlen M., Toyoda Y., Andersen J.S., Poser I., Hyman A.A., Vanselow K., Bennetzen M., Falkenby L.G., Jakobsen L., Skogs M., Westendorf J.", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "reference": [ { "type": "PubMed", "id": "21399614", "url": "https://glygen.org/publication/PubMed/21399614" } ] }, { "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": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "iPTMnet", "id": "Q6P2H3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6P2H3" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Proteome wide purification and identification of O-GlcNAc-modified proteins using click chemistry and mass spectrometry.", "journal": "Journal of proteome research", "date": "2013", "authors": "Hahne H, Sobotzki N, Nyberg T, Helm D, Borodkin VS, van Aalten DM, Agnew B, Kuster B", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6P2H3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6P2H3" } ], "reference": [ { "type": "PubMed", "id": "23301498", "url": "https://glygen.org/publication/PubMed/23301498" } ] }, { "title": "Characterization of Cep85 - a new antagonist of Nek2A that is involved in the regulation of centrosome disjunction.", "journal": "J. Cell Sci.", "date": "2015", "authors": "Chen C, Tian F, Lu L, Wang Y, Xiao Z, Yu C, Yu X", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" }, { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" } ], "reference": [ { "type": "PubMed", "id": "26220856", "url": "https://glygen.org/publication/PubMed/26220856" } ] }, { "title": "Direct binding of CEP85 to STIL ensures robust PLK4 activation and efficient centriole assembly.", "journal": "Nature communications", "date": "2018", "authors": "Liu Y, Gupta GD, Barnabas DD, Agircan FG, Mehmood S, Wu D, Coyaud E, Johnson CM, McLaughlin SH, Andreeva A, Freund SMV, Robinson CV, Cheung SWT, Raught B, Pelletier L, van Breugel M", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" } ], "reference": [ { "type": "PubMed", "id": "29712910", "url": "https://glygen.org/publication/PubMed/29712910" } ] }, { "title": "Direct interaction between CEP85 and STIL mediates PLK4-driven directed cell migration.", "journal": "Journal of cell science", "date": "2020", "authors": "Liu Y, Kim J, Philip R, Sridhar V, Chandrashekhar M, Moffat J, van Breugel M, Pelletier L", "evidence": [ { "database": "RefSeq", "id": "NP_001268446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268446" } ], "reference": [ { "type": "PubMed", "id": "32107292", "url": "https://glygen.org/publication/PubMed/32107292" } ] }, { "title": "Methods for Enrichment and Assignment of N-Acetylglucosamine Modification Sites.", "journal": "Molecular & cellular proteomics : MCP", "date": "2021", "authors": "Maynard JC, Chalkley RJ", "evidence": [ { "database": "O-GlcNAc Atlas", "id": "Q6P2H3", "url": "https://oglcnac.org/atlas/detail/Q6P2H3" } ], "reference": [ { "type": "PubMed", "id": "32938750", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "pathway": [ { "id": "hsa:64793", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:64793", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JUV7-1", "protein_name": "Centrosomal protein 85", "gene_name": "Cep85", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAMQEKYPSDRSPHTASPGSNVIQKGSSLGTEWQTPVISEAFRSRFSRCSSIADSGDTAIGTSCSDIAEDFCSSSGSPSFQPIKSHITIPTAHVMPSTLGASPAKPSPTPSGPSSAKLPLSGLTEGVGMTRNGDFGAVKRSPGLSRDFMYLPSAAGENGIQQSWFPAVGHEREGEMRKFDVSSMESTLNQPAMLETLYSDPHYRAHFPTPRPDTNKDAYKVLPESKKAPGSGAVFERNGPHASNSGVLPLGLQPAPGLSKSLSSQVWQPSPDPWHPGEQSCELSTCRQQLELIRLQMEQMQLQNGAICHHPAAFTPSLPTLEPAQWISILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSKEKMELEKKLSASEVEIQLIRESLKVTLQKHSEEGKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQTEQLKDAELKNTELQGRVAELETMLEDTQAACREKEVQLESLRQREAQFSSARHSFQDKQSLEEASGESLKVEMESQQKECDSLRKIVERQQLKLEQLHSQVQSQKQELAQEEGISQALREEAQRRETALQQMRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSSSGSPDAAQLAYELHQELASCLQDLQAVCSIVTQRAQGHSPNLSLLLGIHSTPHPGTQLDLQKPDVIRRKLEEVQQLRHDIEDLRTSLSDRYAQDMGENCATQ", "length": 763 }, "evidence": [ { "id": "45238829", "url": "http://www.informatics.jax.org/homology/45238829", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8BMK0-1", "protein_name": "Centrosomal protein of 85 kDa", "gene_name": "Cep85", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAMQEKYPNDRSHATSPGSNVIQKGSSLGTEWQTPVISETFRSRFSRCSSIADSGDTAIGTSCSDIAEDFCSSSGSPSFQPIKSHITIPTAHVMPSTLGASPAKPNSAPSGPSSAKLPLSGLTEGVGMTRNGDFGAVKRSPGLARDFMYLPSAAGENGSQQSWFPAVGHEREGEMRKFDVPSMESTLNQPAMLETLYSDPHYRAHFPNPRPDTNKDVYKVLPESKKAPGSGAVFERNGPHASSSGVLPLGLQPAPGLSKSLSSQVWQPSPDPWHPGEQSCELSTCRQQLELIRLQMEQMQLQNGAMCHHPAAFAPLLPTLEPAQWLSILNSNEHLLKEKELLIDKQRKHISQLEQKVRESELQVHSALLGRPAPFGDVCLLRLQELQRENTFLRAQFAQKTEALSKEKMELEKKLSASEVEIQLIRESLKVTLQKHSEEGKKQEERVKGRDKHINNLKKKCQKESEQNREKQQRIETLERYLADLPTLEDHQKQTEQLKDAELKNTELQERVAELETLLEDTQATCREKEVQLESLRQREADLSSARHSFQDKQSVEEANGENLRVDMESQQKECDSLRKMVERQQLKMEQLHSQVQSQKQELAQEEGINQALREEAQRRETALQQMRTAVKELSVQNQDLIEKNLTLQEHLRQAQPGSSSSPDSAQLACELHQELASCLQDLQAVCSIVTQRAQGHNPNLSLLLGIHSTQHPGTQLDLQKPDVIRRKLEEVQQLRHDIEDLRTSLSDRYAQDMGENCATQ", "length": 761 }, "evidence": [ { "id": "45238829", "url": "http://www.informatics.jax.org/homology/45238829", "database": "MGI" }, { "id": "Q6P2H3", "url": "https://omabrowser.org/oma/group/Q6P2H3/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "regulation of mitotic centrosome separation", "id": "GO:0046602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046602", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" }, { "name": "pericentriolar material", "id": "GO:0000242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000242", "evidence": [ { "database": "UniProtKB", "id": "Q6P2H3", "url": "https://www.uniprot.org/uniprot/Q6P2H3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 107, "end_pos": 109, "annotation": "n_glycosylation_sequon" }, { "start_pos": 189, "end_pos": 191, "annotation": "n_glycosylation_sequon" }, { "start_pos": 243, "end_pos": 245, "annotation": "n_glycosylation_sequon" }, { "start_pos": 646, "end_pos": 648, "annotation": "n_glycosylation_sequon" }, { "start_pos": 701, "end_pos": 703, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "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": 8 }, { "field": "total_sites", "count": 8 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }