{ "uniprot_canonical_ac": "O75771-1", "uniprot_ac": "O75771", "uniprot_id": "RA51D_HUMAN", "mass": { "chemical_mass": 35049.0, "monoisotopic_mass": 35049.0 }, "refseq": { "ac": "NP_001136043", "name": "DNA repair protein RAD51 homolog 4 isoform 6", "summary": "The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" }, "gene_names": [ { "name": "RAD51D", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75771", "id": "O75771" }, { "name": "BROVCA4; R51H3; RAD51L3; TRAD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043", "id": "NP_001136043" }, { "name": "RAD51D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043", "id": "NP_001136043" }, { "name": "RAD51L3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75771", "id": "O75771" }, { "name": "hCG_1989222", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75771", "id": "O75771" } ], "protein_names": [ { "name": "DNA repair protein RAD51 homolog 4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75771" }, { "name": "DNA repair protein RAD51 homolog 4 isoform 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043", "id": "NP_001136043" }, { "name": "R51H3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75771" }, { "name": "RAD51 homolog D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75771" }, { "name": "RAD51-like protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75771" }, { "name": "TRAD", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75771" }, { "name": "recombination repair protein; DNA repair protein RAD51 homolog 4; RAD51-like protein 3; RAD51 homolog D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043", "id": "NP_001136043" } ], "function": [ { "annotation": "Clinical characteristics and survival analysis of Chinese ovarian cancer patients with RAD51D germline mutations. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" }, { "database": "PubMed", "id": "36544182", "url": "https://glygen.org/publication/PubMed/36544182" } ] }, { "annotation": "Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction 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. Involved in telomere maintenance. The BCDX2 subcomplex XRCC2:RAD51D can stimulate Holliday junction resolution by BLM.", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771#function" }, { "database": "PubMed", "id": "11751635", "url": "https://glygen.org/publication/PubMed/11751635" }, { "database": "PubMed", "id": "11842113", "url": "https://glygen.org/publication/PubMed/11842113" }, { "database": "PubMed", "id": "11834724", "url": "https://glygen.org/publication/PubMed/11834724" }, { "database": "PubMed", "id": "12975363", "url": "https://glygen.org/publication/PubMed/12975363" }, { "database": "PubMed", "id": "10871607", "url": "https://glygen.org/publication/PubMed/10871607" }, { "database": "PubMed", "id": "23149936", "url": "https://glygen.org/publication/PubMed/23149936" }, { "database": "PubMed", "id": "15109494", "url": "https://glygen.org/publication/PubMed/15109494" } ] }, { "annotation": "Structural insights into BCDX2 complex function in homologous recombination.", "evidence": [ { "database": "RefSeq", "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" }, { "database": "PubMed", "id": "37344589", "url": "https://glygen.org/publication/PubMed/37344589" } ] }, { "annotation": "Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.", "evidence": [ { "database": "RefSeq", "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" }, { "database": "PubMed", "id": "37344587", "url": "https://glygen.org/publication/PubMed/37344587" } ] }, { "annotation": "The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" } ] }, { "annotation": "UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.", "evidence": [ { "database": "RefSeq", "id": "NP_001136043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136043" }, { "database": "PubMed", "id": "36411032", "url": "https://glygen.org/publication/PubMed/36411032" } ] } ], "disease": [ { "disease_id": "MONDO:0013669", "recommended_name": { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "breast-ovarian cancer, familial, susceptibility to, 4", "description": "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene." }, "synonyms": [ { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "RAD51D hereditary breast ovarian cancer syndrome", "description": "" }, { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "breast-ovarian cancer, familial, susceptibility to, 4", "description": "" }, { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "breast-ovarian cancer, familial, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D", "description": "" }, { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "BROVCA4", "description": "" }, { "id": "MONDO:0013669", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013669", "name": "susceptibility to familial breast-ovarian cancer 4", "description": "" }, { "id": "MIM:614291", "resource": "MIM", "url": "https://www.omim.org/entry/614291", "name": "Breast-ovarian cancer, familial, 4", "description": "Breast-ovarian cancer, familial, 4" } ], "evidence": [ { "id": "614291", "database": "MIM", "url": "https://www.omim.org/entry/614291" } ] } ], "snv": [ { "evidence": [ { "id": "O75771", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75771" } ], "glycoeffect": [], "start_pos": 300, "end_pos": 300, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "35101205", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R300", "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" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.59", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "71.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "70.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "77.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000185379", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000185379" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75771", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75771" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"" }, { "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 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75771" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQDGIPEHLNHIPHCLHVHLPC", "length": 93, "header": "tr|K7ESL4-1|RA51D_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35107110, "end_pos": 35106190, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588372.5", "url": "https://www.ensembl.org/id/ENST00000588372.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468764.1", "url": "https://www.ensembl.org/id/ENSP00000468764.1" } ] } }, { "isoform_ac": "O75771-1", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTAILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 328, "header": "sp|O75771-1|RA51D_HUMAN Isoform 1 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35119613, "end_pos": 35100956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394589.8", "url": "https://www.ensembl.org/id/ENST00000394589.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000378090.4", "url": "https://www.ensembl.org/id/ENSP00000378090.4" } ] } }, { "isoform_ac": "O75771-2", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKS", "length": 49, "header": "sp|O75771-2|RA51D_HUMAN Isoform 2 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35119613, "end_pos": 35107445, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586044.5", "url": "https://www.ensembl.org/id/ENST00000586044.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000465584.1", "url": "https://www.ensembl.org/id/ENSP00000465584.1" } ] } }, { "isoform_ac": "O75771-3", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 216, "header": "sp|O75771-3|RA51D_HUMAN Isoform 3 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35119613, "end_pos": 35100956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000335858.11", "url": "https://www.ensembl.org/id/ENST00000335858.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000338408.6", "url": "https://www.ensembl.org/id/ENSP00000338408.6" } ] } }, { "isoform_ac": "O75771-4", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTAILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 283, "header": "sp|O75771-4|RA51D_HUMAN Isoform 4 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": {} }, { "isoform_ac": "O75771-5", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTAILSTGIGRQKLSGGSRWCMHLVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 328, "header": "sp|O75771-5|RA51D_HUMAN Isoform 5 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": {} }, { "isoform_ac": "O75771-6", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTAILSTGIGRHGGRTQVGTWEDCSCLRSPQGDRGVGSGML", "length": 118, "header": "sp|O75771-6|RA51D_HUMAN Isoform 6 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35119613, "end_pos": 35116947, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000587977.5", "url": "https://www.ensembl.org/id/ENST00000587977.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000466587.1", "url": "https://www.ensembl.org/id/ENSP00000466587.1" } ] } }, { "isoform_ac": "O75771-7", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKALVALRRVLLAQFSAFPVNGADLYEELKTSTAILSTGIGSLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQDGIPEHLNHIPHCLHVHLPC", "length": 212, "header": "sp|O75771-7|RA51D_HUMAN Isoform 7 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": {} }, { "isoform_ac": "O75771-8", "url": "", "sequence": { "sequence": "MGVLRVGLCPGLTEEMIQLLRSHRIKTVVDLVSADLEEVAQKCGLSYKTWRAHSSGNLGGLQLPQVPAGRSWSGVRNALKKAGLGHGGTDGLSLNAFDERGTAVSTSRLDKLLDAGLYTGEVTEIVGGPGSGKTQVCLCMAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 348, "header": "sp|O75771-8|RA51D_HUMAN Isoform 8 of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35119613, "end_pos": 35100956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590016.6", "url": "https://www.ensembl.org/id/ENST00000590016.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000466399.1", "url": "https://www.ensembl.org/id/ENSP00000466399.1" } ] } }, { "isoform_ac": "Q7Z790-1", "url": "", "sequence": { "sequence": "MAANVAHGLQQNVLYVDSNGGLTASRLLQLLQAKTQDEEEQAEALRRIQVVHAFDIFQMLDVLQELRGTVAQQVTGSSGTVKVVVVDSVTAVVSPLLGGQQREGLALMMQLARELKTLARDLGMAVVVTNHITRDRDSGRLKPALGRSWSFVPSTRILLDTIEGAGASGGRRMACLAKSSRQPTGFQEMVDIGTWGTSEQSATLQGDQT", "length": 209, "header": "tr|Q7Z790-1|RA51D_HUMAN Computationally mapped isoform of DNA repair protein RAD51 homolog 4 OS=Homo sapiens OX=9606 GN=RAD51D PE=1 SV=1 CANONICAL=O75771-1" }, "locus": { "chromosome": "17", "start_pos": 35107110, "end_pos": 35100956, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000592577.6", "url": "https://www.ensembl.org/id/ENST00000592577.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000466839.2", "url": "https://www.ensembl.org/id/ENSP00000466839.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Multiple alternative transcripts of the human homologue of the mouse TRAD/R51H3/RAD51D gene, a member of the recA/RAD51 gene family.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1999", "authors": "Kawabata M, Saeki K", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "10092526", "url": "https://glygen.org/publication/PubMed/10092526" } ] }, { "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": "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": "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": "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": "The RAD51 family member, RAD51L3, is a DNA-stimulated ATPase that forms a complex with XRCC2.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Braybrooke JP, Spink KG, Thacker J, Hickson ID", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "10871607", "url": "https://glygen.org/publication/PubMed/10871607" } ] }, { "title": "p53 and c-Jun functionally synergize in the regulation of the DNA repair gene hMSH2 in response to UV.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Scherer SJ, Maier SM, Seifert M, Hanselmann RG, Zang KD, Muller-Hermelink HK, Angel P, Welter C, Schartl M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "10984493", "url": "https://glygen.org/publication/PubMed/10984493" } ] }, { "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": "Identification of a p53 response element in the promoter region of the hMSH2 gene required for expression in A2780 ovarian cancer cells.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Warnick CT, Dabbas B, Ford CD, Strait KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11350971", "url": "https://glygen.org/publication/PubMed/11350971" } ] }, { "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": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "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 & development", "date": "2001", "authors": "Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" }, { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "11751635", "url": "https://glygen.org/publication/PubMed/11751635" } ] }, { "title": "Cancer susceptibility and the functions of BRCA1 and BRCA2.", "journal": "Cell", "date": "2002", "authors": "Venkitaraman AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "11832208", "url": "https://glygen.org/publication/PubMed/11832208" } ] }, { "title": "Homologous pairing and ring and filament structure formation activities of the human Xrcc2*Rad51D complex.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kurumizaka H, Ikawa S, Nakada M, Enomoto R, Kagawa W, Kinebuchi T, Yamazoe M, Yokoyama S, Shibata T", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "11834724", "url": "https://glygen.org/publication/PubMed/11834724" } ] }, { "title": "Interactions involving the Rad51 paralogs Rad51C and XRCC3 in human cells.", "journal": "Nucleic Acids Res.", "date": "2002", "authors": "Wiese Claudia, Collins David W, Albala Joanna S, Thompson Larry H, Kronenberg Amy, Schild David", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "11842112", "url": "https://glygen.org/publication/PubMed/11842112" } ] }, { "title": "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells.", "journal": "Nucleic acids research", "date": "2002-02-15", "authors": "Liu Nan, Schild David, Thelen Michael P, Thompson Larry H", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "11842113", "url": "https://glygen.org/publication/PubMed/11842113" } ] }, { "title": "p53 Binds and activates the xeroderma pigmentosum DDB2 gene in humans but not mice.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Tan T, Chu G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11971958", "url": "https://glygen.org/publication/PubMed/11971958" } ] }, { "title": "Cyclin K as a direct transcriptional target of the p53 tumor suppressor.", "journal": "Neoplasia (New York, N.Y.)", "date": "2002", "authors": "Mori T, Anazawa Y, Matsui K, Fukuda S, Nakamura Y, Arakawa H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "11988847", "url": "https://glygen.org/publication/PubMed/11988847" } ] }, { "title": "BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.", "journal": "Science (New York, N.Y.)", "date": "2002", "authors": "Yang H, Jeffrey PD, Miller J, Kinnucan E, Sun Y, Thoma NH, Zheng N, Chen PL, Lee WH, Pavletich NP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "12228710", "url": "https://glygen.org/publication/PubMed/12228710" } ] }, { "title": "Identification and characterization of human MUS81-MMS4 structure-specific endonuclease.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ogrunc M, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "12686547", "url": "https://glygen.org/publication/PubMed/12686547" } ] }, { "title": "Identification and characterization of the human mus81-eme1 endonuclease.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Ciccia A, Constantinou A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "12721304", "url": "https://glygen.org/publication/PubMed/12721304" } ] }, { "title": "Rad51 recombinase and recombination mediators.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Sung P, Krejci L, Van Komen S, Sehorn MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "12912992", "url": "https://glygen.org/publication/PubMed/12912992" } ] }, { "title": "Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D).", "journal": "The Journal of biological chemistry", "date": "2003-11-28", "authors": "Braybrooke Jeremy P, Li Ji-Liang, Wu Leonard, Caple Fiona, Benson Fiona E, Hickson Ian D", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "12975363", "url": "https://glygen.org/publication/PubMed/12975363" } ] }, { "title": "Generating crossovers by resolution of nicked Holliday junctions: a role for Mus81-Eme1 in meiosis.", "journal": "Molecular cell", "date": "2003", "authors": "Osman F, Dixon J, Doe CL, Whitby MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693568", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693568" } ], "reference": [ { "type": "PubMed", "id": "14527420", "url": "https://glygen.org/publication/PubMed/14527420" } ] }, { "title": "RAD51C is required for Holliday junction processing in mammalian cells.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Liu Y, Masson JY, Shah R, O'Regan P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693579", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579" } ], "reference": [ { "type": "PubMed", "id": "14716019", "url": "https://glygen.org/publication/PubMed/14716019" } ] }, { "title": "An unappreciated role for RNA surveillance.", "journal": "Genome Biol.", "date": "2004", "authors": "Hillman R Tyler, Green Richard E, Brenner Steven E", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "14759258", "url": "https://glygen.org/publication/PubMed/14759258" } ] }, { "title": "Telomere maintenance requires the RAD51D recombination/repair protein.", "journal": "Cell", "date": "2004-04-30", "authors": "Tarsounas Madalena, Mu\u00f1oz Purificac\u00edon, Claas Andreas, Smiraldo Phillip G, Pittman Douglas L, Blasco Mar\u00eda A, West Stephen C", "evidence": [ { "database": "UniProtKB", "id": "O75771", "url": "https://www.uniprot.org/uniprot/O75771" } ], "reference": [ { "type": "PubMed", "id": "15109494", "url": "https://glygen.org/publication/PubMed/15109494" } ] }, { "title": "The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 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