{ "uniprot_canonical_ac": "O75943-1", "uniprot_ac": "O75943", "uniprot_id": "RAD17_HUMAN", "mass": { "chemical_mass": 77055.0, "monoisotopic_mass": 77055.0 }, "refseq": { "ac": "NP_001265551", "name": "cell cycle checkpoint protein RAD17 isoform 1", "summary": "The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, "gene_names": [ { "name": "RAD17", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75943", "id": "O75943" }, { "name": "CCYC; HRAD17; R24L; RAD17SP; RAD24", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551", "id": "NP_001265551" }, { "name": "R24L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75943", "id": "O75943" }, { "name": "RAD17", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551", "id": "NP_001265551" } ], "protein_names": [ { "name": "Cell cycle checkpoint protein RAD17", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75943" }, { "name": "RAD1 homolog; cell cycle checkpoint protein (RAD17); Rad17-like protein; RF-C activator 1 homolog; RAD17 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551", "id": "NP_001265551" }, { "name": "RF-C/activator 1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75943" }, { "name": "cell cycle checkpoint protein RAD17 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551", "id": "NP_001265551" }, { "name": "hRad17", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75943" } ], "function": [ { "annotation": "Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage (PubMed:10208430, PubMed:11418864, PubMed:11687627, PubMed:11799063, PubMed:12672690, PubMed:14624239, PubMed:15235112). Has a weak ATPase activity required for binding to chromatin (PubMed:10208430, PubMed:11418864, PubMed:11687627, PubMed:11799063, PubMed:12672690, PubMed:14624239, PubMed:15235112). Participates in the recruitment of the 9-1-1 (RAD1-RAD9-HUS1) complex and RHNO1 onto chromatin, and in CHEK1 activation (PubMed:21659603). May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination (PubMed:14500819, PubMed:12578958, PubMed:15538388).", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943#function" }, { "database": "PubMed", "id": "11687627", "url": "https://glygen.org/publication/PubMed/11687627" }, { "database": "PubMed", "id": "12578958", "url": "https://glygen.org/publication/PubMed/12578958" }, { "database": "PubMed", "id": "15538388", "url": "https://glygen.org/publication/PubMed/15538388" }, { "database": "PubMed", "id": "14500819", "url": "https://glygen.org/publication/PubMed/14500819" }, { "database": "PubMed", "id": "12672690", "url": "https://glygen.org/publication/PubMed/12672690" }, { "database": "PubMed", "id": "10208430", "url": "https://glygen.org/publication/PubMed/10208430" }, { "database": "PubMed", "id": "21659603", "url": "https://glygen.org/publication/PubMed/21659603" }, { "database": "PubMed", "id": "14624239", "url": "https://glygen.org/publication/PubMed/14624239" }, { "database": "PubMed", "id": "15235112", "url": "https://glygen.org/publication/PubMed/15235112" }, { "database": "PubMed", "id": "11418864", "url": "https://glygen.org/publication/PubMed/11418864" }, { "database": "PubMed", "id": "11799063", "url": "https://glygen.org/publication/PubMed/11799063" } ] }, { "annotation": "IQGAP3 interacts with Rad17 to recruit the Mre11-Rad50-Nbs1 complex and contributes to radioresistance in lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, { "database": "PubMed", "id": "32896617", "url": "https://glygen.org/publication/PubMed/32896617" } ] }, { "annotation": "Nuclear translocation promotes proteasomal degradation of human Rad17 protein through the N-terminal destruction boxes.", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, { "database": "PubMed", "id": "34174284", "url": "https://glygen.org/publication/PubMed/34174284" } ] }, { "annotation": "The C-terminal tail of Rad17, iVERGE, binds the 9-1-1 complex independently of AAA+ ATPase domains to provide another clamp-loader interface.", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, { "database": "PubMed", "id": "37713925", "url": "https://glygen.org/publication/PubMed/37713925" } ] }, { "annotation": "The Cell Cycle Checkpoint Gene, RAD17 rs1045051, Is Associated with Prostate Cancer Risk.", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, { "database": "PubMed", "id": "34511607", "url": "https://glygen.org/publication/PubMed/34511607" } ] }, { "annotation": "The noncoding function of NELFA mRNA promotes the development of oesophageal squamous cell carcinoma by regulating the Rad17-RFC2-5 complex.", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" }, { "database": "PubMed", "id": "31845510", "url": "https://glygen.org/publication/PubMed/31845510" } ] }, { "annotation": "The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001265551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265551" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O75943", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75943" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 2, "end_pos": 2, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->P).", "chr_id": "5", "chr_pos": "69371519", "ref_nt": "T", "alt_nt": "C", "minor_allelic_frequency": "", "site_lbl": "S2", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1344420808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1344420808" }, { "id": "rs1344420808", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1344420808" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 351, "end_pos": 351, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNL->NNS).", "chr_id": "5", "chr_pos": "69391843", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L351", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751080720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751080720" }, { "id": "rs751080720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751080720" }, { "id": "rs751080720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs751080720#frequency_tab" }, { "id": "rs751080720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751080720" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 479, "end_pos": 479, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILS->NLS).", "chr_id": "5", "chr_pos": "69393481", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I479", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775961602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775961602" }, { "id": "rs775961602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775961602" }, { "id": "rs775961602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775961602#frequency_tab" }, { "id": "rs775961602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775961602" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "5", "chr_pos": "69371525", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232653062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232653062" }, { "id": "rs1232653062", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1232653062" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "5", "chr_pos": "69371526", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1260798308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260798308" }, { "id": "rs1260798308", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1260798308#frequency_tab" }, { "id": "rs775961602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775961602" }, { "id": "rs775961602", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775961602" }, { "id": "rs775961602", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775961602#frequency_tab" }, { "id": "rs775961602", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775961602" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 4, "end_pos": 4, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "5", "chr_pos": "69382054", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T4", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768916111", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768916111" }, { "id": "rs768916111", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768916111" }, { "id": "rs768916111", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768916111" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 650, "end_pos": 650, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "5", "chr_pos": "69414194", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A650", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75943", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75943" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 90, "end_pos": 90, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NEP->NES).", "chr_id": "5", "chr_pos": "69374055", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P90", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 143, "end_pos": 143, "sequence_org": "K", "sequence_mut": "E", "comment": "Impairs phosphorylation on S-656. Abolishes interaction with the RAD1-RAD9-HUS1 complex; does not affect interaction with RFC3.", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" }, { "database": "PubMed", "id": "15235112", "url": "https://glygen.org/publication/PubMed/15235112" }, { "database": "PubMed", "id": "11799063", "url": "https://glygen.org/publication/PubMed/11799063" }, { "database": "PubMed", "id": "10884395", "url": "https://glygen.org/publication/PubMed/10884395" } ] }, { "start_pos": 143, "end_pos": 143, "sequence_org": "K", "sequence_mut": "G", "comment": "Impairs phosphorylation. 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75943", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75943" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75943", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75943" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75943", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75943" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O75943", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75943" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"categories": [ "Protein" ] }, { "id": "D6RA84-1", "url": "https://www.uniprot.org/uniprot/D6RA84-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RAW6", "url": "https://www.uniprot.org/uniprot/D6RAW6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RAW6-1", "url": "https://www.uniprot.org/uniprot/D6RAW6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RHU1", "url": "https://www.uniprot.org/uniprot/D6RHU1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RHU1-1", "url": "https://www.uniprot.org/uniprot/D6RHU1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9J8", "url": "https://www.uniprot.org/uniprot/H0Y9J8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9J8-1", "url": "https://www.uniprot.org/uniprot/H0Y9J8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9T7", "url": "https://www.uniprot.org/uniprot/H0Y9T7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y9T7-1", "url": "https://www.uniprot.org/uniprot/H0Y9T7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75943-1", "url": "https://www.uniprot.org/uniprot/O75943-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75943-2", "url": "https://www.uniprot.org/uniprot/O75943-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75943-3", "url": "https://www.uniprot.org/uniprot/O75943-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75943-4", "url": "https://www.uniprot.org/uniprot/O75943-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSKTFLRPKVSSTKVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSRFPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 681, "header": "sp|O75943-1|RAD17_HUMAN Isoform 1 of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=2 CANONICAL=O75943-1" }, "isoforms": [ { "isoform_ac": "A0A0G2JNH5-1", "url": "", "sequence": { "sequence": "MFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCRQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 505, "header": "tr|A0A0G2JNH5-1|RAD17_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "HSCHR5_2_CTG1_1", "start_pos": 197712, "end_pos": 165431, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000611001.4", "url": "https://www.ensembl.org/id/ENST00000611001.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481388.1", "url": "https://www.ensembl.org/id/ENSP00000481388.1" } ] } }, { "isoform_ac": "A0A0G2JP31-1", "url": "", "sequence": { "sequence": "SLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCRQTQLLPYLALLTIPMRNQD", "length": 184, "header": "tr|A0A0G2JP31-1|RAD17_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "HSCHR5_2_CTG1_1", "start_pos": 197455, "end_pos": 175357, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000613417.4", "url": "https://www.ensembl.org/id/ENST00000613417.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482765.1", "url": "https://www.ensembl.org/id/ENSP00000482765.1" } ] } }, { "isoform_ac": "A0A0G2JP78-1", "url": "", "sequence": { "sequence": "MNQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCRQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 584, "header": "tr|A0A0G2JP78-1|A0A0G2JP78_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "HSCHR5_2_CTG1_1", "start_pos": 197712, "end_pos": 155402, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000616158.4", "url": "https://www.ensembl.org/id/ENST00000616158.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483115.1", "url": "https://www.ensembl.org/id/ENSP00000483115.1" } ] } }, { "isoform_ac": "A0A0G2JPT5-1", "url": "", "sequence": { "sequence": "MSKTFLRPKVSSTKVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSRFPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCRQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 681, "header": "tr|A0A0G2JPT5-1|A0A0G2JPT5_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "HSCHR5_2_CTG1_1", "start_pos": 197712, "end_pos": 154709, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621806.4", "url": "https://www.ensembl.org/id/ENST00000621806.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000484227.1", "url": "https://www.ensembl.org/id/ENSP00000484227.1" } ] } }, { "isoform_ac": "D6RA84-1", "url": "", "sequence": { "sequence": "MNQVTDWVDPSFDDFLECSG", "length": 20, "header": "tr|D6RA84-1|RAD17_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=8 CANONICAL=O75943-1" }, "locus": { "chromosome": "HSCHR5_2_CTG1_1", "start_pos": 157066, "end_pos": 155402, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000611548.4", "url": "https://www.ensembl.org/id/ENST00000611548.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000478321.1", "url": "https://www.ensembl.org/id/ENSP00000478321.1" } ] } }, { "isoform_ac": "D6RAW6-1", "url": "", "sequence": { "sequence": "MNQVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSRFPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNT", "length": 169, "header": "tr|D6RAW6-1|D6RAW6_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69382056, "end_pos": 69372209, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506564.5", "url": "https://www.ensembl.org/id/ENST00000506564.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424696.1", "url": "https://www.ensembl.org/id/ENSP00000424696.1" } ] } }, { "isoform_ac": "D6RHU1-1", "url": "", "sequence": { "sequence": "MFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVE", "length": 50, "header": "tr|D6RHU1-1|D6RHU1_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69384933, "end_pos": 69382045, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000512785.5", "url": "https://www.ensembl.org/id/ENST00000512785.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000427673.1", "url": "https://www.ensembl.org/id/ENSP00000427673.1" } ] } }, { "isoform_ac": "H0Y9J8-1", "url": "", "sequence": { "sequence": "SDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKMNGIRILSCREQHLPT", "length": 165, "header": "tr|H0Y9J8-1|H0Y9J8_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69392817, "end_pos": 69386223, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508320.1", "url": "https://www.ensembl.org/id/ENST00000508320.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000424289.1", "url": "https://www.ensembl.org/id/ENSP00000424289.1" } ] } }, { "isoform_ac": "H0Y9T7-1", "url": "", "sequence": { "sequence": "SLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQD", "length": 184, "header": "tr|H0Y9T7-1|RAD17_HUMAN Computationally mapped isoform of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=1 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69414032, "end_pos": 69391968, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513214.1", "url": "https://www.ensembl.org/id/ENST00000513214.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425005.1", "url": "https://www.ensembl.org/id/ENSP00000425005.1" } ] } }, { "isoform_ac": "O75943-1", "url": "", "sequence": { "sequence": "MSKTFLRPKVSSTKVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSRFPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 681, "header": "sp|O75943-1|RAD17_HUMAN Isoform 1 of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=2 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69414289, "end_pos": 69371516, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509734.5", "url": "https://www.ensembl.org/id/ENST00000509734.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426191.1", "url": "https://www.ensembl.org/id/ENSP00000426191.1" } ] } }, { "isoform_ac": "O75943-2", "url": "", "sequence": { "sequence": "MNQVTDWVDPSFDDFLECSGVSTITATSLGVNNSSHRRKNGPSTLESSRFPARKRGNLSSLEQIYGLENSKEYLSENEPWVDKYKPETQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 670, "header": "sp|O75943-2|RAD17_HUMAN Isoform 2 of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=2 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69414289, "end_pos": 69372209, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354312.7", "url": "https://www.ensembl.org/id/ENST00000354312.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000346271.3", "url": "https://www.ensembl.org/id/ENSP00000346271.3" } ] } }, { "isoform_ac": "O75943-3", "url": "", "sequence": { "sequence": "MFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 505, "header": "sp|O75943-3|RAD17_HUMAN Isoform 3 of Cell cycle checkpoint protein RAD17 OS=Homo sapiens OX=9606 GN=RAD17 PE=1 SV=2 CANONICAL=O75943-1" }, "locus": { "chromosome": "5", "start_pos": 69414289, "end_pos": 69382045, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358030.6", "url": "https://www.ensembl.org/id/ENST00000358030.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000350725.2", "url": "https://www.ensembl.org/id/ENSP00000350725.2" } ] } }, { "isoform_ac": "O75943-4", "url": "", "sequence": { "sequence": "MNQHELAVHKKKIEEVETWLKAQVLERQPKQGGSILLITGPPGCGKTTTLKILSKEHGIQVQEWINPVLPDFQKDDFKGMFNTESSFHMFPYQSQIAVFKEFLLRATKYNKLQMLGDDLRTDKKIILVEDLPNQFYRDSHTLHEVLRKYVRIGRCPLIFIISDSLSGDNNQRLLFPKEIQEECSISNISFNPVAPTIMMKFLNRIVTIEANKNGGKITVPDKTSLELLCQGCSGDIRSAINSLQFSSSKGENNLRPRKKGMSLKSDAVLSKSKRRKKPDRVFENQEVQAIGGKDVSLFLFRALGKILYCKRASLTELDSPRLPSHLSEYERDTLLVEPEEVVEMSHMPGDLFNLYLHQNYIDFFMEIDDIVRASEFLSFADILSGDWNTRSLLREYSTSIATRGVMHSNKARGYAHCQGGGSSFRPLHKPQWFLINKKYRENCLAAKALFPDFCLPALCLQTQLLPYLALLTIPMRNQAQISFIQDIGRLPLKRHFGRLKMEALTDREHGMIDPDSGDEAQLNGGHSAEESLGEPTQATVPETWSLPLSQNSASELPASQPQPFSAQGDMEENIIIEDYESDGT", "length": 584, "header": "sp|O75943-4|RAD17_HUMAN 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"site_lbl": "Ser71" }, { "start_pos": 86, "end_pos": 86, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O75943", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75943" } ], "site_lbl": "Ser86" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Raderschall E, Golub EI, Haaf T", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10051570", "url": "https://glygen.org/publication/PubMed/10051570" } ] }, { "title": "hRAD17, a structural homolog of the Schizosaccharomyces pombe RAD17 cell cycle checkpoint gene, stimulates p53 accumulation.", "journal": "Oncogene", "date": "1999-03-04", "authors": "Li L, Peterson C A, Kanter-Smoler G, Wei Y F, Ramagli L S, Sunnerhagen P, Siciliano M J, Legerski R J", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "reference": [ { "type": "PubMed", "id": "10208430", "url": "https://glygen.org/publication/PubMed/10208430" } ] }, { "title": "Radiation-induced assembly of Rad51 and Rad52 recombination complex requires ATM and c-Abl.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chen G, Yuan SS, Liu W, Xu Y, Trujillo K, Song B, Cong F, Goff SP, Wu Y, Arlinghaus R, Baltimore D, Gasser PJ, Park MS, Sung P, Lee EY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10212258", "url": "https://glygen.org/publication/PubMed/10212258" } ] }, { "title": "HRad17, a human homologue of the Schizosaccharomyces pombe checkpoint gene rad17, is overexpressed in colon carcinoma.", "journal": "Cancer Res.", "date": "1999", "authors": "Bao S, Chang M S, Auclair D, Sun Y, Wang Y, Wong W K, Zhang J, Liu Y, Qian X, Sutherland R, Magi-Galluzi C, Weisberg E, Cheng E Y, Hao L, Sasaki H, Campbell M S, Kraeft S K, Loda M, Lo K M, Chen L B", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "reference": [ { "type": "PubMed", "id": "10232579", "url": "https://glygen.org/publication/PubMed/10232579" } ] }, { "title": "Analysis of DNA replication forks encountering a pyrimidine dimer in the template to the leading strand.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Cordeiro-Stone M, Makhov AM, Zaritskaya LS, Griffith JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10373362", "url": "https://glygen.org/publication/PubMed/10373362" } ] }, { "title": "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "10373512", "url": "https://glygen.org/publication/PubMed/10373512" } ] }, { "title": "The ataxia-telangiectasia related protein ATR mediates DNA-dependent phosphorylation of p53.", "journal": "Oncogene", "date": "1999", "authors": "Lakin ND, Hann BC, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10435622", "url": "https://glygen.org/publication/PubMed/10435622" } ] }, { "title": "Heteroduplex formation by human Rad51 protein: effects of DNA end-structure, hRP-A and hRad52.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "Human and mouse RAD17 genes: identification, localization, genomic structure and histological expression pattern in normal testis and seminoma.", "journal": "Hum. Genet.", "date": "1999", "authors": "von Deimling F, Scharf J M, Liehr T, Rothe M, Kelter A R, Albers P, Dietrich W F, Kunkel L M, Wernert N, Wirth B", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "reference": [ { "type": "PubMed", "id": "10480350", "url": "https://glygen.org/publication/PubMed/10480350" } ] }, { "title": "Regulation of cyclin-dependent kinase 5 catalytic activity by phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sharma P, Sharma M, Amin ND, Albers RW, Pant HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10500146", "url": "https://glygen.org/publication/PubMed/10500146" } ] }, { "title": "Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chen CF, Chen PL, Zhong Q, Sharp ZD, Lee WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9709570", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9709570" } ], "reference": [ { "type": "PubMed", "id": "10551859", "url": "https://glygen.org/publication/PubMed/10551859" } ] }, { "title": "Phosphorylation of Ser-20 mediates stabilization of human p53 in response to DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Chehab NH, Malikzay A, Stavridi ES, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "title": "Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Spain BH, Larson CJ, Shihabuddin LS, Gage FH, Verma IM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "10570174", "url": "https://glygen.org/publication/PubMed/10570174" } ] }, { "title": "HRad17 colocalizes with NHP2L1 in the nucleolus and redistributes after UV irradiation.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Chang MS, Sasaki H, Campbell MS, Kraeft SK, Sutherland R, Yang CY, Liu Y, Auclair D, Hao L, Sonoda H, Ferland LH, Chen LB", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "reference": [ { "type": "PubMed", "id": "10593953", "url": "https://glygen.org/publication/PubMed/10593953" } ] }, { "title": "Conversion of p35 to p25 deregulates Cdk5 activity and promotes neurodegeneration.", "journal": "Nature", "date": "1999", "authors": "Patrick GN, Zukerberg L, Nikolic M, de la Monte S, Dikkes P, Tsai LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10604467", "url": "https://glygen.org/publication/PubMed/10604467" } ] }, { "title": "Substrate specificities and identification of putative substrates of ATM kinase family members.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kim ST, Lim DS, Canman CE, Kastan MB", "evidence": [ { "database": "iPTMnet", "id": "O75943-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75943-1" } ], "reference": [ { "type": "PubMed", "id": "10608806", "url": "https://glygen.org/publication/PubMed/10608806" } ] }, { "title": "Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53.", "journal": "Genes & development", "date": "2000", "authors": "Chehab NH, Malikzay A, Appel M, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10673500", "url": "https://glygen.org/publication/PubMed/10673500" } ] }, { "title": "The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites.", "journal": "Genes & development", "date": "2000", "authors": "Shieh SY, Ahn J, Tamai K, Taya Y, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" } ] }, { "title": "DNA damage-induced activation of p53 by the checkpoint kinase Chk2.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Hirao A, Kong YY, Matsuoka S, Wakeham A, Ruland J, Yoshida H, Liu D, Elledge SJ, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10710310", "url": "https://glygen.org/publication/PubMed/10710310" } ] }, { "title": "Nuclear localization signals of the BRCA2 protein.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Yano K, Morotomi K, Saito H, Kato M, Matsuo F, Miki Y", "evidence": [ { "database": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "Rad17 RFC-like complex", "id": "GO:0031389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031389", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "DNA repair", "id": "GO:0006281", "url": 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"evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "mitotic intra-S DNA damage checkpoint signaling", "id": "GO:0031573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031573", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" } ], "pmid": "" }, { "name": "mitotic DNA replication checkpoint signaling", "id": "GO:0033314", "url": 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Phosphorylation on Ser-646 and Ser-656 is cell cycle-regulated, enhanced by genotoxic stress, and required for activation of checkpoint signaling. Phosphorylation is mediated by ATR upon UV or replication arrest, whereas it may be mediated both by ATR and ATM upon ionizing radiation. Phosphorylation on both sites is required for interaction with RAD1 but dispensable for interaction with RFC3 or RFC4.", "evidence": [ { "database": "UniProtKB", "id": "O75943", "url": "https://www.uniprot.org/uniprot/O75943" }, { "database": "PubMed", "id": "11687627", "url": "https://glygen.org/publication/PubMed/11687627" }, { "database": "PubMed", "id": "14500819", "url": "https://glygen.org/publication/PubMed/14500819" }, { "database": "PubMed", "id": "14871926", "url": "https://glygen.org/publication/PubMed/14871926" }, { "database": "PubMed", "id": "11418864", "url": "https://glygen.org/publication/PubMed/11418864" }, { "database": "PubMed", "id": "11799063", "url": "https://glygen.org/publication/PubMed/11799063" } ] } ], "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" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 2, 4 ], "snv_sites": [ 2, 4, 90, 351, 479, 650 ], "glycation_sites": [], "phosphorylation_sites": [ 55, 71, 86, 304, 359, 633, 646, 656 ], "sequon_annotation_sites": [ { "start_pos": 284, "end_pos": 286 }, { "start_pos": 43, "end_pos": 45 }, { "start_pos": 44, "end_pos": 46 }, { "start_pos": 68, "end_pos": 70 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "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": 3 } ], "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": 12 }, { "field": "total_sites", "count": 8 } ], "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": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 185 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }