{ "uniprot_canonical_ac": "O43502-1", "uniprot_ac": "O43502", "uniprot_id": "RA51C_HUMAN", "mass": { "chemical_mass": 42190.0, "monoisotopic_mass": 42190.0 }, "refseq": { "ac": "NP_002867", "name": "DNA repair protein RAD51 homolog 3 isoform 2", "summary": "This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" }, "gene_names": [ { "name": "RAD51C", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43502", "id": "O43502" }, { "name": "BROVCA3; FANCO; R51H3; RAD51L2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867", "id": "NP_002867" }, { "name": "RAD51C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867", "id": "NP_002867" }, { "name": "RAD51L2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43502", "id": "O43502" }, { "name": "hCG_2000975", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43502", "id": "O43502" } ], "protein_names": [ { "name": "DNA repair protein RAD51 homolog 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43502" }, { "name": "DNA repair protein RAD51 homolog 3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867", "id": "NP_002867" }, { "name": "R51H3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43502" }, { "name": "RAD51 homolog C", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43502" }, { "name": "RAD51-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43502" }, { "name": "yeast RAD51 homolog 3; DNA repair protein RAD51 homolog 3; RAD51-like protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867", "id": "NP_002867" } ], "function": [ { "annotation": "Biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome [case report]", "evidence": [ { "database": "RefSeq", "id": "NP_002867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" }, { "database": "PubMed", "id": "20400963", "url": "https://glygen.org/publication/PubMed/20400963" } ] }, { "annotation": "Concluded that the RAD51 paralogs are involved in Holliday junction processing in human cells", "evidence": [ { "database": "RefSeq", "id": "NP_002867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" }, { "database": "PubMed", "id": "14716019", "url": "https://glygen.org/publication/PubMed/14716019" } ] }, { "annotation": "Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Involved in RAD51 foci formation in response to DNA damage suggesting an involvement in early stages of HR probably in the invasion step. Has an early function in DNA repair in facilitating phosphorylation of the checkpoint kinase CHEK2 and thereby transduction of the damage signal, leading to cell cycle arrest and HR activation. Participates in branch migration and HJ resolution and thus is important for processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex. Part of a PALB2-scaffolded HR complex containing BRCA2 and which is thought to play a role in DNA repair by HR. Protects RAD51 from ubiquitin-mediated degradation that is enhanced following DNA damage. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and XRCC3. Contributes to DNA cross-link resistance, sister chromatid cohesion and genomic stability. Involved in maintaining centrosome number in mitosis.", "evidence": [ { "database": "UniProtKB", "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502#function" }, { "database": "PubMed", "id": "23108668", "url": "https://glygen.org/publication/PubMed/23108668" }, { "database": "PubMed", "id": "19451272", "url": "https://glygen.org/publication/PubMed/19451272" }, { "database": "PubMed", "id": "14716019", "url": "https://glygen.org/publication/PubMed/14716019" }, { "database": "PubMed", "id": "16395335", "url": "https://glygen.org/publication/PubMed/16395335" }, { "database": "PubMed", "id": "16215984", "url": "https://glygen.org/publication/PubMed/16215984" }, { "database": "PubMed", "id": "23149936", "url": "https://glygen.org/publication/PubMed/23149936" }, { "database": "PubMed", "id": "19783859", "url": "https://glygen.org/publication/PubMed/19783859" }, { "database": "PubMed", "id": "20413593", "url": "https://glygen.org/publication/PubMed/20413593" } ] }, { "annotation": "RAD51C-XRCC3 structure and cancer patient mutations define DNA replication roles. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" }, { "database": "PubMed", "id": "37488098", "url": "https://glygen.org/publication/PubMed/37488098" } ] }, { "annotation": "Structural insights into BCDX2 complex function in homologous recombination.", "evidence": [ { "database": "RefSeq", "id": "NP_002867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" }, { "database": "PubMed", "id": "37344589", "url": "https://glygen.org/publication/PubMed/37344589" } ] }, { "annotation": "This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_002867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002867" } ] } ], "disease": [ { "disease_id": "DOID:0111096", "recommended_name": { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "Fanconi anemia complementation group O", "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24." }, "synonyms": [ { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group O", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi Anemia, complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia caused by mutation in RAD51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia caused by mutation in Rad51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia caused by mutation in RAD51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia caused by mutation in Rad51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia, complementation group O", "description": "" }, { "id": "MIM:613390", "resource": "MIM", "url": "https://www.omim.org/entry/613390", "name": "Fanconi anemia complementation group O", "description": "Fanconi anemia complementation group O" } ], "evidence": [ { "id": "613390", "database": "MIM", "url": "https://www.omim.org/entry/613390" } ] }, { "disease_id": "MONDO:0013253", "recommended_name": { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "breast-ovarian cancer, familial, susceptibility to, 3", "description": "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene." }, "synonyms": [ { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "RAD51C hereditary breast ovarian cancer syndrome", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "Rad51C hereditary breast ovarian cancer syndrome", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "breast-ovarian cancer, familial, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "breast-ovarian cancer, familial, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "hereditary breast ovarian cancer syndrome caused by mutation in Rad51C", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "BROVCA3", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "breast cancer, familial, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "ovarian cancer, familial, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013253", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013253", "name": "susceptibility to familial breast-ovarian cancer 3", "description": "" }, { "id": "MIM:613399", "resource": "MIM", "url": "https://www.omim.org/entry/613399", "name": "Breast-ovarian cancer, familial, 3", "description": "Breast-ovarian cancer, familial, 3" } ], "evidence": [ { "id": "613399", "database": "MIM", "url": "https://www.omim.org/entry/613399" } ] } ], "snv": [ { "evidence": [ { "id": "O43502", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43502" } ], "glycoeffect": [], "start_pos": 155, "end_pos": 155, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "17", "chr_pos": "58696752", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A155", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "rs876659875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs876659875" }, { "id": "rs876659875", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs876659875" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 198, "end_pos": 198, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFT->NFT).", "chr_id": "17", "chr_pos": "58724087", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D198", "disease": [ { "disease_id": "DOID:0111096", "recommended_name": { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "Fanconi anemia complementation group O", "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24." }, "synonyms": [ { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group O", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi Anemia, complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia caused by mutation in RAD51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia caused by mutation in Rad51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anaemia complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia caused by mutation in RAD51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia caused by mutation in Rad51C", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia, complementation group O", "description": "" }, { "id": "MIM:613390", "resource": "MIM", "url": "https://www.omim.org/entry/613390", "name": "Fanconi anemia complementation group O", "description": "Fanconi anemia complementation group O" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs746571208", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746571208" }, { "id": "rs746571208", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746571208" }, { "id": "rs746571208", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs746571208#frequency_tab" }, { "id": "rs746571208", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746571208" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 295, "end_pos": 295, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQA->NQS).", "chr_id": "17", "chr_pos": "58720791", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A295", "disease": [ { "disease_id": "DOID:0111096", "recommended_name": { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "Fanconi anemia complementation group O", "description": "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24." }, "synonyms": [ { "id": "DOID:0111096", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111096", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group O", "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "FANCO", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi Anemia, complementation group type 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"https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia complementation group type O", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "RAD51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anaemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Rad51C Fanconi anemia", "description": "" }, { "id": "MONDO:0013248", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013248", "name": "Fanconi anemia, complementation group O", "description": "" }, { "id": "MIM:613390", "resource": 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"url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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": "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": "O43502", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43502" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43502", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43502" } ], "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502" } ], "common_name": "Human" } ], "gene": [ { "name": "RAD51C", "url": "https://www.uniprot.org/uniprot/O43502", "locus": { "chromosome": "17", "start_pos": 46730, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_314", "url": "https://www.ensembl.org/id/LRG_314" } ] } } ], "crossref": [ { "id": "ENSG00000108384", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108384", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O43502", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43502", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd19492", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19492", "database": "CDD", "categories": [ "Protein 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"J3QKK3", "url": "https://www.uniprot.org/uniprot/J3QKK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QKK3-1", "url": "https://www.uniprot.org/uniprot/J3QKK3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLB5", "url": "https://www.uniprot.org/uniprot/J3QLB5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLB5-1", "url": "https://www.uniprot.org/uniprot/J3QLB5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLQ2", "url": "https://www.uniprot.org/uniprot/J3QLQ2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QLQ2-1", "url": "https://www.uniprot.org/uniprot/J3QLQ2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QR58", "url": "https://www.uniprot.org/uniprot/J3QR58", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QR58-1", "url": "https://www.uniprot.org/uniprot/J3QR58-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43502-1", "url": "https://www.uniprot.org/uniprot/O43502-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43502-2", "url": "https://www.uniprot.org/uniprot/O43502-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7KZJ0", "url": "https://www.uniprot.org/uniprot/Q7KZJ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7KZJ0-1", "url": "https://www.uniprot.org/uniprot/Q7KZJ0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL", "length": 376, "header": "sp|O43502-1|RA51C_HUMAN Isoform 1 of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "isoforms": [ { "isoform_ac": "A0A087WZ35-1", "url": "", "sequence": { "sequence": "ELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEESGSTARAGVQWRNLGLLRPSPPRFKRFS", "length": 131, "header": "tr|A0A087WZ35-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58699960, "end_pos": 58695050, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000622327.4", "url": "https://www.ensembl.org/id/ENST00000622327.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000482326.1", "url": "https://www.ensembl.org/id/ENSP00000482326.1" } ] } }, { "isoform_ac": "A0A8V8TL64-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLSIADGNHCILRHTNMRLAVVTCCAHLSMTCLDLCYSLKKMEQNFKLLPLLMENTEVSIRL", "length": 74, "header": "tr|A0A8V8TL64-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58693530, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697691.1", "url": "https://www.ensembl.org/id/ENST00000697691.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513400.1", "url": "https://www.ensembl.org/id/ENSP00000513400.1" } ] } }, { "isoform_ac": "A0A8V8TML3-1", "url": "", "sequence": { "sequence": "MKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRWSLALSPRLECRGTISAHCNLHLPSSSDSPTSASSVAGITGWQHCTSHPARRNAQYCFKSNLRDLEILLLLLHVHCKQKVP", "length": 286, "header": "tr|A0A8V8TML3-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734178, "end_pos": 58695137, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697686.1", "url": "https://www.ensembl.org/id/ENST00000697686.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513397.1", "url": "https://www.ensembl.org/id/ENSP00000513397.1" } ] } }, { "isoform_ac": "A0A8V8TML8-1", "url": "", "sequence": { "sequence": "MKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL", "length": 259, "header": "tr|A0A8V8TML8-1|A0A8V8TML8_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734219, "end_pos": 58695137, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697694.1", "url": "https://www.ensembl.org/id/ENST00000697694.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513402.1", "url": "https://www.ensembl.org/id/ENSP00000513402.1" } ] } }, { "isoform_ac": "A0A8V8TMU8-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALASGI", "length": 305, "header": "tr|A0A8V8TMU8-1|A0A8V8TMU8_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734128, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000697690.1", "url": "https://www.ensembl.org/id/ENST00000697690.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513399.1", "url": "https://www.ensembl.org/id/ENSP00000513399.1" } ] } }, { "isoform_ac": "E9PI66-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKGNDS", "length": 52, "header": "tr|E9PI66-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": {} }, { "isoform_ac": "H7C1R0-1", "url": "", "sequence": { "sequence": "XEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQSRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL", "length": 257, "header": "tr|H7C1R0-1|H7C1R0_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734221, "end_pos": 58695148, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413590.5", "url": "https://www.ensembl.org/id/ENST00000413590.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000401741.1", "url": "https://www.ensembl.org/id/ENSP00000401741.1" } ] } }, { "isoform_ac": "H7C2Q5-1", "url": "", "sequence": { "sequence": "LTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKAHCSSRITLLLCGVALPLPLSARAPPSETKDDIALPPGLMVRLVIV", "length": 213, "header": "tr|H7C2Q5-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58709876, "end_pos": 58694990, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425173.5", "url": "https://www.ensembl.org/id/ENST00000425173.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407282.1", "url": "https://www.ensembl.org/id/ENSP00000407282.1" } ] } }, { "isoform_ac": "J3QKK3-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKVSII", "length": 346, "header": "tr|J3QKK3-1|J3QKK3_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58732556, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583539.5", "url": "https://www.ensembl.org/id/ENST00000583539.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463121.1", "url": "https://www.ensembl.org/id/ENSP00000463121.1" } ] } }, { "isoform_ac": "J3QLB5-1", "url": "", "sequence": { "sequence": "XFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKVCSWQ", "length": 47, "header": "tr|J3QLB5-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58696707, "end_pos": 58692663, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584617.5", "url": "https://www.ensembl.org/id/ENST00000584617.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463473.1", "url": "https://www.ensembl.org/id/ENSP00000463473.1" } ] } }, { "isoform_ac": "J3QLQ2-1", "url": "", "sequence": { "sequence": "VRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGWQHCTSHPARRNAQYCFKSNLRDLEILLLLLHVHCKQKVP", "length": 107, "header": "tr|J3QLQ2-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734178, "end_pos": 58709859, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584804.1", "url": "https://www.ensembl.org/id/ENST00000584804.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463658.1", "url": "https://www.ensembl.org/id/ENSP00000463658.1" } ] } }, { "isoform_ac": "J3QR58-1", "url": "", "sequence": { "sequence": "MKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKVSII", "length": 229, "header": "tr|J3QR58-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=2 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58732556, "end_pos": 58695137, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461271.6", "url": "https://www.ensembl.org/id/ENST00000461271.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000464056.2", "url": "https://www.ensembl.org/id/ENSP00000464056.2" } ] } }, { "isoform_ac": "O43502-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLCMQLAVDVQIPECFGGVAGEAVFIDTEGSFMVDRVVDLATACIQHLQLIAEKHKGEEHRKALEDFTLDNILSHIYYFRCRDYTELLAQVYLLPDFLSEHSKVRLVIVDGIAFPFRHDLDDLSLRTRLLNGLAQQMISLANNHRLAVILTNQMTTKIDRNQALLVPALGESWGHAATIRLIFHWDRKQRLATLYKSPSQKECTVLFQIKPQGFRDTVVTSACSLQTEGSLSTRKRSRDPEEEL", "length": 376, "header": "sp|O43502-1|RA51C_HUMAN Isoform 1 of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58734219, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000337432.9", "url": "https://www.ensembl.org/id/ENST00000337432.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000336701.4", "url": "https://www.ensembl.org/id/ENSP00000336701.4" } ] } }, { "isoform_ac": "O43502-2", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQLW", "length": 135, "header": "sp|O43502-2|RA51C_HUMAN Isoform 2 of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58695190, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421782.3", "url": "https://www.ensembl.org/id/ENST00000421782.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000391450.2", "url": "https://www.ensembl.org/id/ENSP00000391450.2" } ] } }, { "isoform_ac": "Q7KZJ0-1", "url": "", "sequence": { "sequence": "MRGKTFRFEMQRDLVSFPLSPAVRVKLVSAGFQTAEELLEVKPSELSKEVGISKAEALETLQIIRRECLTNKPRYAGTSESHKKCTALELLEQEHTQGFIITFCSALDDILGGGVPLMKTTEICGAPGVGKTQL", "length": 134, "header": "tr|Q7KZJ0-1|RA51C_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 3 OS=Homo sapiens OX=9606 GN=RAD51C PE=1 SV=1 CANONICAL=O43502-1" }, "locus": { "chromosome": "17", "start_pos": 58695189, "end_pos": 58692644, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482007.5", "url": "https://www.ensembl.org/id/ENST00000482007.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433332.1", "url": "https://www.ensembl.org/id/ENSP00000433332.1" } ] } } ], "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": 60, "start_aa": "Thr", "end_pos": 60, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr60", "evidence": [ { "id": "O43502", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43502" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] } ], "phosphorylation": [ { "start_pos": 20, "end_pos": 20, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43502", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43502" } ], "site_lbl": "Ser20" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis.", "journal": "Cancer research", "date": "1999", "authors": "Bocker T, Barusevicius A, Snowden T, Rasio D, Guerrette S, Robbins D, Schmidt C, Burczak J, Croce CM, Copeland T, Kovatich AJ, Fishel R", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10029069", "url": "https://glygen.org/publication/PubMed/10029069" } ] }, { "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": "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-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "The meiosis-specific recombinase hDmc1 forms ring structures and interacts with hRad51.", "journal": "The EMBO journal", "date": "1999", "authors": "Masson JY, Davies AA, Hajibagheri N, Van Dyck E, Benson FE, Stasiak AZ, Stasiak A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10562567", "url": "https://glygen.org/publication/PubMed/10562567" } ] }, { "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": "Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells.", "journal": "Cancer research", "date": "2000", "authors": "Johnson FB, Lombard DB, Neff NF, Mastrangelo MA, Dewolf W, Ellis NA, Marciniak RA, Yin Y, Jaenisch R, Guarente L", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10728666", "url": "https://glygen.org/publication/PubMed/10728666" } ] }, { "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": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "10733923", "url": "https://glygen.org/publication/PubMed/10733923" } ] }, { "title": "The Bloom's syndrome gene product interacts with topoisomerase III.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Wu L, Davies SL, North PS, Goulaouic H, Riou JF, Turley H, Gatter KC, Hickson ID", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10734115", "url": "https://glygen.org/publication/PubMed/10734115" } ] }, { "title": "Low fidelity DNA synthesis by human DNA polymerase-eta.", "journal": "Nature", "date": "2000", "authors": "Matsuda T, Bebenek K, Masutani C, Hanaoka F, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "10801132", "url": "https://glygen.org/publication/PubMed/10801132" } ] }, { "title": "Mechanisms of accurate translesion synthesis by human DNA polymerase eta.", "journal": "The EMBO journal", "date": "2000", "authors": "Masutani C, Kusumoto R, Iwai S, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "10856253", "url": "https://glygen.org/publication/PubMed/10856253" } ] }, { "title": "MSH4 acts in conjunction with MLH1 during mammalian meiosis.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2000", "authors": "Santucci-Darmanin S, Walpita D, Lespinasse F, Desnuelle C, Ashley T, Paquis-Flucklinger V", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "10928988", "url": "https://glygen.org/publication/PubMed/10928988" } ] }, { "title": "Fidelity and processivity of DNA synthesis by DNA polymerase kappa, the product of the human DINB1 gene.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ohashi E, Bebenek K, Matsuda T, Feaver WJ, Gerlach VL, Friedberg EC, Ohmori H, Kunkel TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685942", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942" } ], "reference": [ { "type": "PubMed", "id": "11006276", "url": "https://glygen.org/publication/PubMed/11006276" } ] }, { "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11042108", "url": "https://glygen.org/publication/PubMed/11042108" } ] }, { "title": "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Nielsen E, Christoforidis S, Uttenweiler-Joseph S, Miaczynska M, Dewitte F, Wilm M, Hoflack B, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11062261", "url": "https://glygen.org/publication/PubMed/11062261" } ] }, { "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.", "journal": "Nucleic acids research", "date": "2001", "authors": "Kondo E, Horii A, Fukushige S", "evidence": [ { "database": "Reactome", "id": "R-HSA-912446", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912446" } ], "reference": [ { "type": "PubMed", "id": "11292842", "url": "https://glygen.org/publication/PubMed/11292842" } ] }, { "title": "Complex formation by the human RAD51C and XRCC3 recombination repair proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "11459987", "url": "https://glygen.org/publication/PubMed/11459987" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "J. Biol. Chem.", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "UniProtKB", "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502" }, { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Identification and purification of two distinct complexes containing the five RAD51 paralogs.", "journal": "Genes Dev.", "date": "2001", "authors": "Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC", "evidence": [ { "database": "UniProtKB", "id": "O43502", "url": "https://www.uniprot.org/uniprot/O43502" }, { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "11751635", "url": 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"total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 6 }, { "field": "total_sites", "count": 5 } ], "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": 5 }, { "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": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 157 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }