{ "uniprot_canonical_ac": "O60921-1", "uniprot_ac": "O60921", "uniprot_id": "HUS1_HUMAN", "mass": { "chemical_mass": 31691.0, "monoisotopic_mass": 31691.0 }, "refseq": { "ac": "NP_004498", "name": "checkpoint protein HUS1 isoform 1", "summary": "The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498" }, "gene_names": [ { "name": "HUS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60921", "id": "O60921" }, { "name": "HUS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498", "id": "NP_004498" }, { "name": "hHUS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498", "id": "NP_004498" } ], "protein_names": [ { "name": "Checkpoint protein HUS1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60921" }, { "name": "checkpoint protein HUS1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498", "id": "NP_004498" }, { "name": "hHUS1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60921" }, { "name": "hus1+-like protein; checkpoint protein HUS1; HUS1 checkpoint homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498", "id": "NP_004498" } ], "function": [ { "annotation": "Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair (PubMed:21659603). The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex (PubMed:21659603). Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER) (PubMed:21659603). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates (PubMed:21659603). The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase (PubMed:21659603).", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921#function" }, { "database": "PubMed", "id": "21659603", "url": "https://glygen.org/publication/PubMed/21659603" } ] }, { "annotation": "Functional study of the yeast homolog.", "evidence": [ { "database": "RefSeq", "id": "NP_004498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498" }, { "database": "PubMed", "id": "9524127", "url": "https://glygen.org/publication/PubMed/9524127" } ] }, { "annotation": "In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498" }, { "database": "PubMed", "id": "33137086", "url": "https://glygen.org/publication/PubMed/33137086" } ] }, { "annotation": "MiR-340-3p-HUS1 axis suppresses proliferation and migration in lung adenocarcinoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_004498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498" }, { "database": "PubMed", "id": "33711383", "url": "https://glygen.org/publication/PubMed/33711383" } ] }, { "annotation": "The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_004498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004498" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "83.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "64.58", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "64.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000136273", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000136273" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60921", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60921" } ], "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", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "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, 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": "" }, { "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", 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"url": "https://www.ensembl.org/id/ENST00000446009.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000398806.1", "url": "https://www.ensembl.org/id/ENSP00000398806.1" } ] } }, { "isoform_ac": "C9JCK8-1", "url": "", "sequence": { "sequence": "MIAKLAKTCTLRISPDKLNFILCDKLANGGVSMWCELEQENFFNEFQMEGVSAENNEIYLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPVVPDPDVSIYLPVLKTMKSVVEKMKNISNHLVIEANLDGELNLKIETELVCVTTH", "length": 183, "header": "tr|C9JCK8-1|HUS1_HUMAN Computationally mapped isoform of Checkpoint protein HUS1 OS=Homo sapiens OX=9606 GN=HUS1 PE=1 SV=1 CANONICAL=O60921-1" }, "locus": { "chromosome": "7", "start_pos": 47978805, "end_pos": 47969247, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432627.5", "url": "https://www.ensembl.org/id/ENST00000432627.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404855.1", "url": "https://www.ensembl.org/id/ENSP00000404855.1" } ] } }, { "isoform_ac": "F8WAW9-1", "url": "", "sequence": { "sequence": "MIAKLAKTCTLRISPDKLNFILCDKLANGGVSMWCELEQENFFNEFQMEGVSAENNEIYLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPVVPDPDDLIFSSAGQERYLDVHESQEEKNFMA", "length": 160, "header": "tr|F8WAW9-1|HUS1_HUMAN Computationally mapped isoform of Checkpoint protein HUS1 OS=Homo sapiens OX=9606 GN=HUS1 PE=1 SV=1 CANONICAL=O60921-1" }, "locus": { "chromosome": "7", "start_pos": 47978805, "end_pos": 47976344, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433977.5", "url": "https://www.ensembl.org/id/ENST00000433977.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405175.1", "url": "https://www.ensembl.org/id/ENSP00000405175.1" } ] } }, { "isoform_ac": "H7C272-1", "url": "", "sequence": { "sequence": "XLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPVVPDPDVSIYLPVLKTMKSVVEKMKNISNHLVPSN", "length": 105, "header": "tr|H7C272-1|HUS1_HUMAN Computationally mapped isoform of Checkpoint protein HUS1 OS=Homo sapiens OX=9606 GN=HUS1 PE=1 SV=1 CANONICAL=O60921-1" }, "locus": { "chromosome": "7", "start_pos": 47978534, "end_pos": 47971503, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442024.5", "url": "https://www.ensembl.org/id/ENST00000442024.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404348.1", "url": "https://www.ensembl.org/id/ENSP00000404348.1" } ] } }, { "isoform_ac": "O60921-1", "url": "", "sequence": { "sequence": "MKFRAKIVDGACLNHFTRISNMIAKLAKTCTLRISPDKLNFILCDKLANGGVSMWCELEQENFFNEFQMEGVSAENNEIYLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPVVPDPDVSIYLPVLKTMKSVVEKMKNISNHLVIEANLDGELNLKIETELVCVTTHFKDLGNPPLASESTHEDRNVEHMAEVHIDIRKLLQFLAGQQVNPTKALCNIVNNKMVHFDLLHEDVSLQYFIPALS", "length": 280, "header": "sp|O60921-1|HUS1_HUMAN Isoform 1 of Checkpoint protein HUS1 OS=Homo sapiens OX=9606 GN=HUS1 PE=1 SV=1 CANONICAL=O60921-1" }, "locus": { "chromosome": "7", "start_pos": 47979519, "end_pos": 47965359, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000258774.10", "url": "https://www.ensembl.org/id/ENST00000258774.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000258774.5", "url": "https://www.ensembl.org/id/ENSP00000258774.5" } ] } }, { "isoform_ac": "O60921-2", "url": "", "sequence": { "sequence": "MIAKLAKTCTLRISPDKLNFILCDKLANGGVSMWCELEQENFFNEFQMEGVSAENNEIYLELTSENLSRALKTAQNARALKIKLTNKHFPCLTVSVELLSMSSSSRIVTHDIPIKVIPRKLWKDLQEPVVPDPDVSIYLPVLKTMKSVVEKMKNISNHLVIEANLDGELNLKIETELVCVTTHFKDLGNPPLASESTHEDRNVEHMAEVHIDIRKLLQFLAGQQVNPTKALCNIVNNKMVHFDLLHEDVSLQYFIPALS", "length": 259, "header": "sp|O60921-2|HUS1_HUMAN Isoform 2 of Checkpoint protein HUS1 OS=Homo sapiens OX=9606 GN=HUS1 PE=1 SV=1 CANONICAL=O60921-1" }, "locus": { "chromosome": "7", "start_pos": 47978805, "end_pos": 47965359, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000458191.5", "url": "https://www.ensembl.org/id/ENST00000458191.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000400727.1", "url": "https://www.ensembl.org/id/ENSP00000400727.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 202, "end_pos": 202, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60921", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60921" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr202" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Nuclear foci of mammalian recombination proteins are located at single-stranded DNA regions formed after DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Raderschall E, Golub EI, Haaf T", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10051570", "url": "https://glygen.org/publication/PubMed/10051570" } ] }, { "title": "Radiation-induced assembly of Rad51 and Rad52 recombination complex requires ATM and c-Abl.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chen G, Yuan SS, Liu W, Xu Y, Trujillo K, Song B, Cong F, Goff SP, Wu Y, Arlinghaus R, Baltimore D, Gasser PJ, Park MS, Sung P, Lee EY", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10212258", "url": "https://glygen.org/publication/PubMed/10212258" } ] }, { "title": "The human G2 checkpoint control protein hRAD9 is a nuclear phosphoprotein that forms complexes with hRAD1 and hHUS1.", "journal": "Mol. Biol. Cell", "date": "1999", "authors": "St Onge R P, Udell C M, Casselman R, Davey S", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921" } ], "reference": [ { "type": "PubMed", "id": "10359610", "url": "https://glygen.org/publication/PubMed/10359610" } ] }, { "title": "Analysis of DNA replication forks encountering a pyrimidine dimer in the template to the leading strand.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Cordeiro-Stone M, Makhov AM, Zaritskaya LS, Griffith JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10373362", "url": "https://glygen.org/publication/PubMed/10373362" } ] }, { "title": "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "10373512", "url": "https://glygen.org/publication/PubMed/10373512" } ] }, { "title": "The ataxia-telangiectasia related protein ATR mediates DNA-dependent phosphorylation of p53.", "journal": "Oncogene", "date": "1999", "authors": "Lakin ND, Hann BC, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10435622", "url": "https://glygen.org/publication/PubMed/10435622" } ] }, { "title": "Heteroduplex formation by human Rad51 protein: effects of DNA end-structure, hRP-A and hRad52.", "journal": "Journal of molecular biology", "date": "1999", "authors": "Baumann P, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10438626", "url": "https://glygen.org/publication/PubMed/10438626" } ] }, { "title": "Regulation of cyclin-dependent kinase 5 catalytic activity by phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Sharma P, Sharma M, Amin ND, Albers RW, Pant HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10500146", "url": "https://glygen.org/publication/PubMed/10500146" } ] }, { "title": "Expression of BRC repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to radiation hypersensitivity and loss of G(2)/M checkpoint control.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Chen CF, Chen PL, Zhong Q, Sharp ZD, Lee WH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9709570", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9709570" } ], "reference": [ { "type": "PubMed", "id": "10551859", "url": "https://glygen.org/publication/PubMed/10551859" } ] }, { "title": "Phosphorylation of Ser-20 mediates stabilization of human p53 in response to DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Chehab NH, Malikzay A, Stavridi ES, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10570149", "url": "https://glygen.org/publication/PubMed/10570149" } ] }, { "title": "Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Spain BH, Larson CJ, Shihabuddin LS, Gage FH, Verma IM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616" } ], "reference": [ { "type": "PubMed", "id": "10570174", "url": "https://glygen.org/publication/PubMed/10570174" } ] }, { "title": "Conversion of p35 to p25 deregulates Cdk5 activity and promotes neurodegeneration.", "journal": "Nature", "date": "1999", "authors": "Patrick GN, Zukerberg L, Nikolic M, de la Monte S, Dikkes P, Tsai LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10604467", "url": "https://glygen.org/publication/PubMed/10604467" } ] }, { "title": "Chk2/hCds1 functions as a DNA damage checkpoint in G(1) by stabilizing p53.", "journal": "Genes & development", "date": "2000", "authors": "Chehab NH, Malikzay A, Appel M, Halazonetis TD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10673500", "url": "https://glygen.org/publication/PubMed/10673500" } ] }, { "title": "The human homologs of checkpoint kinases Chk1 and Cds1 (Chk2) phosphorylate p53 at multiple DNA damage-inducible sites.", "journal": "Genes & development", "date": "2000", "authors": "Shieh SY, Ahn J, Tamai K, Taya Y, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10673501", "url": "https://glygen.org/publication/PubMed/10673501" } ] }, { "title": "DNA damage-induced activation of p53 by the checkpoint kinase Chk2.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Hirao A, Kong YY, Matsuoka S, Wakeham A, Ruland J, Yoshida H, Liu D, Elledge SJ, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10710310", "url": "https://glygen.org/publication/PubMed/10710310" } ] }, { "title": "Nuclear localization signals of the BRCA2 protein.", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Yano K, Morotomi K, Saito H, Kato M, Matsuo F, Miki Y", "evidence": [ { "database": "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 human Rad52 protein exists as a heptameric ring.", "journal": "Current biology : CB", "date": "2000", "authors": "Stasiak AZ, Larquet E, Stasiak A, Muller S, Engel A, Van Dyck E, West SC, Egelman EH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10744977", "url": "https://glygen.org/publication/PubMed/10744977" } ] }, { "title": "Physical interaction among human checkpoint control proteins HUS1p, RAD1p, and RAD9p, and implications for the regulation of cell cycle progression.", "journal": "Genomics", "date": "2000", "authors": "Hang H, Lieberman HB", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921" }, { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10777662", "url": "https://glygen.org/publication/PubMed/10777662" } ] }, { "title": "HDAC1, a histone deacetylase, forms a complex with Hus1 and Rad9, two G2/M checkpoint Rad proteins.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Cai RL, Yan-Neale Y, Cueto MA, Xu H, Cohen D", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921" } ], "reference": [ { "type": "PubMed", "id": "10846170", "url": "https://glygen.org/publication/PubMed/10846170" } ] }, { "title": "Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint.", "journal": "Genes & development", "date": "2000", "authors": "Liu Q, Guntuku S, Cui XS, Matsuoka S, Cortez D, Tamai K, Luo G, Carattini-Rivera S, DeMayo F, Bradley A, Donehower LA, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "10859164", "url": "https://glygen.org/publication/PubMed/10859164" } ] }, { "title": "The C-terminal regulatory domain of p53 contains a functional docking site for cyclin A.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Luciani MG, Hutchins JR, Zheleva D, Hupp TR", "evidence": [ { "database": "Reactome", "id": "R-HSA-6804756", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6804756" } ], "reference": [ { "type": "PubMed", "id": "10884347", "url": "https://glygen.org/publication/PubMed/10884347" } ] }, { "title": "The human checkpoint protein hRad17 interacts with the PCNA-like proteins hRad1, hHus1, and hRad9.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Rauen M, Burtelow MA, Dufault VM, Karnitz LM", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921" } ], "reference": [ { "type": "PubMed", "id": "10884395", "url": "https://glygen.org/publication/PubMed/10884395" } ] }, { "title": "Precise binding of single-stranded DNA termini by human RAD52 protein.", "journal": "The EMBO journal", "date": "2000", "authors": "Parsons CA, Baumann P, Van Dyck E, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5685938", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685938" } ], "reference": [ { "type": "PubMed", "id": "10921897", "url": "https://glygen.org/publication/PubMed/10921897" } ] }, { "title": "PCNA interacts with hHus1/hRad9 in response to DNA damage and replication inhibition.", "journal": "Oncogene", "date": "2000", "authors": "Komatsu K, Wharton W, Hang H, Wu C, Singh S, Lieberman H B, Pledger W J, Wang H G", "evidence": [ { "database": "UniProtKB", "id": "O60921", "url": "https://www.uniprot.org/uniprot/O60921" } ], "reference": [ { "type": "PubMed", "id": "11077446", "url": "https://glygen.org/publication/PubMed/11077446" } ] }, { "title": "Reconstitution of the strand invasion step of double-strand break repair using human Rad51 Rad52 and RPA proteins.", "journal": "Journal of molecular biology", "date": "2000", "authors": "McIlwraith MJ, Van Dyck E, Masson JY, Stasiak AZ, Stasiak A, West SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5693607", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693607" } ], "reference": [ { "type": "PubMed", "id": "11080452", "url": "https://glygen.org/publication/PubMed/11080452" } ] }, { "title": "Polarity of human replication protein A binding to DNA.", "journal": "Nucleic acids research", "date": "2001", "authors": "Kolpashchikov DM, Khodyreva SN, Khlimankov DY, Wold MS, Favre A, Lavrik OI", "evidence": [ { "database": "Reactome", "id": 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