{ "uniprot_canonical_ac": "O75419-1", "uniprot_ac": "O75419", "uniprot_id": "CDC45_HUMAN", "mass": { "chemical_mass": 65569.0, "monoisotopic_mass": 65569.0 }, "refseq": { "ac": "NP_001171481", "name": "cell division control protein 45 homolog isoform 1", "summary": "The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, "gene_names": [ { "name": "CDC45", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75419", "id": "O75419" }, { "name": "CDC45L2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75419", "id": "O75419" }, { "name": "CDC45L; CDC45L2; MGORS7; PORC-PI-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481", "id": "NP_001171481" }, { "name": "CDC45L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75419", "id": "O75419" }, { "name": "CDC45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481", "id": "NP_001171481" }, { "name": "PRO710", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75419", "id": "O75419" } ], "protein_names": [ { "name": "Cell division control protein 45 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75419" }, { "name": "PORC-PI-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75419" }, { "name": "cell division control protein 45 homolog isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481", "id": "NP_001171481" }, { "name": "cell division cycle 45-like 2; CDC45 cell division cycle 45-like; CDC45-related protein; cell division control protein 45 homolog; CDC45 cell division cycle 45 homolog; human CDC45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481", "id": "NP_001171481" } ], "function": [ { "annotation": "A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, { "database": "PubMed", "id": "33639314", "url": "https://glygen.org/publication/PubMed/33639314" } ] }, { "annotation": "CircCDC45 promotes the malignant progression of glioblastoma by modulating the miR-485-5p/CSF-1 axis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, { "database": "PubMed", "id": "34627193", "url": "https://glygen.org/publication/PubMed/34627193" } ] }, { "annotation": "IGF2BP2 promotes glycolysis and hepatocellular carcinoma stemness by stabilizing CDC45 mRNA via m6A modification.", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, { "database": "PubMed", "id": "37985379", "url": "https://glygen.org/publication/PubMed/37985379" } ] }, { "annotation": "Knockdown of circular RNA hsa_circ_0062270 suppresses the progression of melanoma via downregulation of CDC45.", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, { "database": "PubMed", "id": "34931691", "url": "https://glygen.org/publication/PubMed/34931691" } ] }, { "annotation": "Required for initiation of chromosomal DNA replication. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built.", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419#function" }, { "database": "PubMed", "id": "34700328", "url": "https://glygen.org/publication/PubMed/34700328" }, { "database": "PubMed", "id": "32453425", "url": "https://glygen.org/publication/PubMed/32453425" }, { "database": "PubMed", "id": "34694004", "url": "https://glygen.org/publication/PubMed/34694004" }, { "database": "PubMed", "id": "35585232", "url": "https://glygen.org/publication/PubMed/35585232" } ] }, { "annotation": "Systematic pancancer analysis identifies CDC45 as having an oncogenic role in human cancers.", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" }, { "database": "PubMed", "id": "36082823", "url": "https://glygen.org/publication/PubMed/36082823" } ] }, { "annotation": "The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" } ] } ], "disease": [ { "disease_id": "DOID:0080518", "recommended_name": { "id": "DOID:0080518", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080518", "name": "Meier-Gorlin syndrome 7", "description": "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11." }, "synonyms": [ { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "Meier-Gorlin syndrome 7", "description": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "CDC45 Meier-Gorlin syndrome", "description": "" }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "MGORS7", "description": "" }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "Meier-Gorlin syndrome 7", "description": "" }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "Meier-Gorlin syndrome 7; MGORS7", "description": "" }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "Meier-Gorlin syndrome caused by mutation in CDC45", "description": "" }, { "id": "MONDO:0014894", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014894", "name": "Meier-Gorlin syndrome type 7", "description": "" }, { "id": "MIM:617063", "resource": "MIM", "url": "https://www.omim.org/entry/617063", "name": "Meier-Gorlin syndrome 7", "description": "Meier-Gorlin syndrome 7" } ], "evidence": [ { "id": "617063", "database": "MIM", "url": "https://www.omim.org/entry/617063" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "56.32", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "60.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "60.91", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "82.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "53.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "60.22", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "52.87", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "62.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "62.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000093009", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000093009" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75419", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75419" } ], "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 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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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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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75419", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75419" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75419", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75419" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O75419", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75419" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75419" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"https://www.uniprot.org/uniprot/H7BZ91", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7BZ91-1", "url": "https://www.uniprot.org/uniprot/H7BZ91-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75419-1", "url": "https://www.uniprot.org/uniprot/O75419-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75419-2", "url": "https://www.uniprot.org/uniprot/O75419-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75419-3", "url": "https://www.uniprot.org/uniprot/O75419-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 566, "header": "sp|O75419-1|CDC45_HUMAN Isoform 1 of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZH29-1", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRQRTGAANCCPW", "length": 371, "header": "tr|A0A5F9ZH29-1|CDC45_HUMAN Computationally mapped isoform of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19516560, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672837.1", "url": "https://www.ensembl.org/id/ENST00000672837.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499976.1", "url": "https://www.ensembl.org/id/ENSP00000499976.1" } ] } }, { "isoform_ac": "A0A5F9ZI22-1", "url": "", "sequence": { "sequence": "XNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKKPPGPRHVLCVSSFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 327, "header": "tr|A0A5F9ZI22-1|CDC45_HUMAN Computationally mapped isoform of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19518907, "end_pos": 19505413, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000671972.1", "url": "https://www.ensembl.org/id/ENST00000671972.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500838.1", "url": "https://www.ensembl.org/id/ENSP00000500838.1" } ] } }, { "isoform_ac": "A0A5K1VW85-1", "url": "", "sequence": { "sequence": "MRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 398, "header": "tr|A0A5K1VW85-1|CDC45_HUMAN Computationally mapped isoform of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19518905, "end_pos": 19494345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407835.6", "url": "https://www.ensembl.org/id/ENST00000407835.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000385240.2", "url": "https://www.ensembl.org/id/ENSP00000385240.2" } ] } }, { "isoform_ac": "C9J911-1", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALGSGTFQKAWKLNRHFSPMFYFGNLQNSQNGLVPV", "length": 73, "header": "tr|C9J911-1|CDC45_HUMAN Computationally mapped isoform of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=2 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19480966, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438587.6", "url": "https://www.ensembl.org/id/ENST00000438587.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397434.2", "url": "https://www.ensembl.org/id/ENSP00000397434.2" } ] } }, { "isoform_ac": "C9K087-1", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDT", "length": 93, "header": "tr|C9K087-1|C9K087_HUMAN Computationally mapped isoform of Cell division cycle 45 OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=2 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19482764, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455750.6", "url": "https://www.ensembl.org/id/ENST00000455750.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000413138.2", "url": "https://www.ensembl.org/id/ENSP00000413138.2" } ] } }, { "isoform_ac": "H7BZ91-1", "url": "", "sequence": { "sequence": "XDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRIIY", "length": 96, "header": "tr|H7BZ91-1|CDC45_HUMAN Computationally mapped isoform of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19494484, "end_pos": 19482751, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428937.1", "url": "https://www.ensembl.org/id/ENST00000428937.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388280.1", "url": "https://www.ensembl.org/id/ENSP00000388280.1" } ] } }, { "isoform_ac": "O75419-1", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 566, "header": "sp|O75419-1|CDC45_HUMAN Isoform 1 of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19518905, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263201.7", "url": "https://www.ensembl.org/id/ENST00000263201.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000263201.2", "url": "https://www.ensembl.org/id/ENSP00000263201.2" } ] } }, { "isoform_ac": "O75419-2", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 520, "header": "sp|O75419-2|CDC45_HUMAN Isoform 2 of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19518905, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000404724.7", "url": "https://www.ensembl.org/id/ENST00000404724.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000384978.3", "url": "https://www.ensembl.org/id/ENSP00000384978.3" } ] } }, { "isoform_ac": "O75419-3", "url": "", "sequence": { "sequence": "MFVSDFRKEFYEVVQSQRVLLFVASDVDALCACKILQALFQCDHVQYTLVPVSGWQELETAFLEHKEQFHYFILINCGANVDLLDILQPDEDTIFFVCDTHRPVNVVNVYNDTQIKLLIKQDDDLEVPAYEDIFRDEEEDEEHSGNDSDGSEPSEKRTRLEEEIVEQTMRRRQRREWEARSGSGSEPVAAALEKSSRLFAGPMSDRTAPRSPRRDILFDYEQYEYHGTSSAMVMFELAWMLSKDLNDMLWWAIVGLTDQWVQDKITQMKYVTDVGVLQRHVSRHNHRNEDEENTLSVDCTRISFEYDLRLVLYQHWSLHDSLCNTSYTAARFKLWSVHGQKRLQEFLADMGLPLKQVKQKFQAMDISLKENLREMIEESANKFGMKDMRVQTFSIHFGFKHKFLASDVVFATMSLMESPEKDGSGTDHFIQALDSLSRSNLDKLYHGLELAKKQLRATQQTIASCLCTNLVISQGPFLYCSLMEGTPDVMLFSRPASLSLLSKHLLKSFVCSTKNRRCKLLPLVMAAPLSMEHGTVTVVGIPPETDSSDRKNFFGRAFEKAAESTSSRMLHNHFDLSVIELKAEDRSKFLDALISLLS", "length": 598, "header": "sp|O75419-3|CDC45_HUMAN Isoform 3 of Cell division control protein 45 homolog OS=Homo sapiens OX=9606 GN=CDC45 PE=1 SV=1 CANONICAL=O75419-1" }, "locus": { "chromosome": "22", "start_pos": 19518905, "end_pos": 19479969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437685.6", "url": "https://www.ensembl.org/id/ENST00000437685.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405726.2", "url": "https://www.ensembl.org/id/ENSP00000405726.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75419", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75419" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [ { "start_pos": 130, "end_pos": 130, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75419", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75419" }, { "database": "phospho.ELM", "id": "O75419", "url": "http://phospho.elm.eu.org/byAccession/O75419.html" } ], "site_lbl": "Tyr130" }, { "start_pos": 144, "end_pos": 144, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75419", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75419" }, { "database": "phospho.ELM", "id": "O75419", "url": "http://phospho.elm.eu.org/byAccession/O75419.html" } ], "site_lbl": "Ser144" }, { "start_pos": 148, "end_pos": 148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O75419", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75419" }, { "database": "phospho.ELM", "id": "O75419", "url": "http://phospho.elm.eu.org/byAccession/O75419.html" } ], "site_lbl": "Ser148" }, { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75419", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75419" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75419", "url": "http://phospho.elm.eu.org/byAccession/O75419.html" } ], "site_lbl": "Ser151" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development.", "journal": "Mamm. Genome", "date": "1999", "authors": "Shaikh T H, Gottlieb S, Sellinger B, Chen F, Roe B A, Oakey R J, Emanuel B S, Budarf M L", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "10051334", "url": "https://glygen.org/publication/PubMed/10051334" } ] }, { "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": "E2F mediates developmental and cell cycle regulation of ORC1 in Drosophila.", "journal": "The EMBO journal", "date": "1999", "authors": "Asano M, Wharton RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10228158", "url": "https://glygen.org/publication/PubMed/10228158" } ] }, { "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": "A novel growth- and cell cycle-regulated protein, ASK, activates human Cdc7-related kinase and is essential for G1/S transition in mammalian cells.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Kumagai H, Sato N, Yamada M, Mahony D, Seghezzi W, Lees E, Arai K, Masai H", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10373557", "url": "https://glygen.org/publication/PubMed/10373557" } ] }, { "title": "CDC25A phosphatase is a target of E2F and is required for efficient E2F-induced S phase.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Vigo E, Muller H, Prosperini E, Hateboer G, Cartwright P, Moroni MC, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10454584", "url": "https://glygen.org/publication/PubMed/10454584" } ] }, { "title": "Human CDC45 protein binds to minichromosome maintenance 7 protein and the p70 subunit of DNA polymerase alpha.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Kukimoto I, Igaki H, Kanda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10518787", "url": "https://glygen.org/publication/PubMed/10518787" } ] }, { "title": "Mammalian Cdc7-Dbf4 protein kinase complex is essential for initiation of DNA replication.", "journal": "The EMBO journal", "date": "1999", "authors": "Jiang W, McDonald D, Hope TJ, Hunter T", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10523313", "url": "https://glygen.org/publication/PubMed/10523313" } ] }, { "title": "Association of Pur alpha and E2F-1 suppresses transcriptional activity of E2F-1.", "journal": "Oncogene", "date": "1999", "authors": "Darbinian N, Gallia GL, Kundu M, Shcherbik N, Tretiakova A, Giordano A, Khalili K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10597240", "url": "https://glygen.org/publication/PubMed/10597240" } ] }, { "title": "Cdk2-dependent and -independent pathways in E2F-mediated S phase induction.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Arata Y, Fujita M, Ohtani K, Kijima S, Kato JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10692433", "url": "https://glygen.org/publication/PubMed/10692433" } ] }, { "title": "Assembly of a complex containing Cdc45p, replication protein A, and Mcm2p at replication origins controlled by S-phase cyclin-dependent kinases and Cdc7p-Dbf4p kinase.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Zou L, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10757793", "url": "https://glygen.org/publication/PubMed/10757793" } ] }, { "title": "Physical interactions 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": "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": "Human Cdc7-related kinase complex. In vitro phosphorylation of MCM by concerted actions of Cdks and Cdc7 and that of a criticial threonine residue of Cdc7 bY Cdks.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Masai H, Matsui E, You Z, Ishimi Y, Tamai K, Arai K", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10846177", "url": "https://glygen.org/publication/PubMed/10846177" } ] }, { "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": "Initiation of eukaryotic DNA replication: origin unwinding and sequential chromatin association of Cdc45, RPA, and DNA polymerase alpha.", "journal": "Molecular cell", "date": "2000", "authors": "Walter J, Newport J", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "10882098", "url": "https://glygen.org/publication/PubMed/10882098" } ] }, { "title": "The human homolog of Saccharomyces cerevisiae Mcm10 interacts with replication factors and dissociates from nuclease-resistant nuclear structures in G(2) phase.", "journal": "Nucleic acids research", "date": "2000", "authors": "Izumi M, Yanagi K, Mizuno T, Yokoi M, Kawasaki Y, Moon KY, Hurwitz J, Yatagai F, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "11095689", "url": "https://glygen.org/publication/PubMed/11095689" } ] }, { "title": "Inhibition of eukaryotic DNA replication by geminin binding to Cdt1.", "journal": "Science (New York, N.Y.)", "date": "2000", "authors": "Wohlschlegel JA, Dwyer BT, Dhar SK, Cvetic C, Walter JC, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "11125146", "url": "https://glygen.org/publication/PubMed/11125146" } ] }, { "title": "ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Zhao H, Piwnica-Worms H", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "11390642", "url": "https://glygen.org/publication/PubMed/11390642" } ] }, { "title": "E2F mediates cell cycle-dependent transcriptional repression in vivo by recruitment of an HDAC1/mSin3B corepressor complex.", "journal": "Genes & development", "date": "2002", "authors": "Rayman JB, Takahashi Y, Indjeian VB, Dannenberg JH, Catchpole S, Watson RJ, te Riele H, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11959842", "url": "https://glygen.org/publication/PubMed/11959842" } ] }, { "title": "E2F-dependent accumulation of hEmi1 regulates S phase entry by inhibiting APC(Cdh1).", "journal": "Nature cell biology", "date": "2002", "authors": "Hsu JY, Reimann JD, Sorensen CS, Lukas J, Jackson PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11988738", "url": "https://glygen.org/publication/PubMed/11988738" } ] }, { "title": "DNA replication in eukaryotic cells.", "journal": "Annual review of biochemistry", "date": "2002", "authors": "Bell SP, Dutta A", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "12045100", "url": "https://glygen.org/publication/PubMed/12045100" } ] }, { "title": "Disruption of the checkpoint kinase 1/cell division cycle 25A pathway abrogates ionizing radiation-induced S and G2 checkpoints.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Zhao H, Watkins JL, Piwnica-Worms H", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12399544", "url": "https://glygen.org/publication/PubMed/12399544" } ] }, { "title": "Loading of the human 9-1-1 checkpoint complex onto DNA by the checkpoint clamp loader hRad17-replication factor C complex in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bermudez VP, Lindsey-Boltz LA, Cesare AJ, Maniwa Y, Griffith JD, Hurwitz J, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12578958", "url": "https://glygen.org/publication/PubMed/12578958" } ] }, { "title": "An E2F site in the 5'-promoter region contributes to serum-dependent up-regulation of the human proliferating cell nuclear antigen gene.", "journal": "FEBS letters", "date": "2003", "authors": "Li YY, Wang L, Lu CD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "12782299", "url": "https://glygen.org/publication/PubMed/12782299" } ] }, { "title": "Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Zou L, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "12791985", "url": "https://glygen.org/publication/PubMed/12791985" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Expression of mammalian paralogues of HRAD9 and Mrad9 checkpoint control genes in normal and cancerous testicular tissue.", "journal": "Cancer research", "date": "2003", "authors": "Hopkins KM, Wang X, Berlin A, Hang H, Thaker HM, Lieberman HB", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "14500360", "url": "https://glygen.org/publication/PubMed/14500360" } ] }, { "title": "Replication protein A-mediated recruitment and activation of Rad17 complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Zou L, Liu D, Elledge SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "14605214", "url": "https://glygen.org/publication/PubMed/14605214" } ] }, { "title": "Biochemical characterization of DNA damage checkpoint complexes: clamp loader and clamp complexes with specificity for 5' recessed DNA.", "journal": "PLoS biology", "date": "2003", "authors": "Ellison V, Stillman B", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "14624239", "url": "https://glygen.org/publication/PubMed/14624239" } ] }, { "title": "Regulation of Geminin and Cdt1 expression by E2F transcription factors.", "journal": "Oncogene", "date": "2004", "authors": "Yoshida K, Inoue I", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "14990995", "url": "https://glygen.org/publication/PubMed/14990995" } ] }, { "title": "Combinatorial gene control involving E2F and E Box family members.", "journal": "The EMBO journal", "date": "2004", "authors": "Giangrande PH, Zhu W, Rempel RE, Laakso N, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15014447", "url": "https://glygen.org/publication/PubMed/15014447" } ] }, { "title": "ATR, Claspin and the Rad9-Rad1-Hus1 complex regulate Chk1 and Cdc25A in the absence of DNA damage.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2004", "authors": "Sorensen CS, Syljuasen RG, Lukas J, Bartek J", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "15190204", "url": "https://glygen.org/publication/PubMed/15190204" } ] }, { "title": "Human claspin is a ring-shaped DNA-binding protein with high affinity to branched DNA structures.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sar F, Lindsey-Boltz LA, Subramanian D, Croteau DL, Hutsell SQ, Griffith JD, Sancar A", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "15226314", "url": "https://glygen.org/publication/PubMed/15226314" } ] }, { "title": "E2Fs link the control of G1/S and G2/M transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zhu W, Giangrande PH, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "15510213", "url": "https://glygen.org/publication/PubMed/15510213" } ] }, { "title": "DNA-dependent phosphorylation of Chk1 and Claspin in a human cell-free system.", "journal": "The Biochemical journal", "date": "2005", "authors": "Clarke CA, Clarke PR", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "15707391", "url": "https://glygen.org/publication/PubMed/15707391" } ] }, { "title": "ATRIP binding to replication protein A-single-stranded DNA promotes ATR-ATRIP localization but is dispensable for Chk1 phosphorylation.", "journal": "Molecular biology of the cell", "date": "2005", "authors": "Ball HL, Myers JS, Cortez D", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "15743907", "url": "https://glygen.org/publication/PubMed/15743907" } ] }, { "title": "Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint.", "journal": "Genes & development", "date": "2005", "authors": "Byun TS, Pacek M, Yee MC, Walter JC, Cimprich KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "15833913", "url": "https://glygen.org/publication/PubMed/15833913" } ] }, { "title": "ATM- and cell cycle-dependent regulation of ATR in response to DNA double-strand breaks.", "journal": "Nature cell biology", "date": "2006", "authors": "Jazayeri A, Falck J, Lukas C, Bartek J, Smith GC, Lukas J, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "16327781", "url": "https://glygen.org/publication/PubMed/16327781" } ] }, { "title": "ATRIP associates with replication protein A-coated ssDNA through multiple interactions.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Namiki Y, Zou L", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "16407120", "url": "https://glygen.org/publication/PubMed/16407120" } ] }, { "title": "Structure of the human GINS complex and its assembly and functional interface in replication initiation.", "journal": "Nature structural & molecular biology", "date": "2007", "authors": "Kamada K, Kubota Y, Arata T, Shindo Y, Hanaoka F", "evidence": [ { "database": "Reactome", "id": "R-HSA-176974", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176974" } ], "reference": [ { "type": "PubMed", "id": "17417653", "url": "https://glygen.org/publication/PubMed/17417653" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" }, { "database": "iPTMnet", "id": "O75419-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75419-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Geminin inhibits a late step in the formation of human pre-replicative complexes.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Wu M, Lu W, Santos RE, Frattini MG, Kelly TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "25231993", "url": "https://glygen.org/publication/PubMed/25231993" } ] }, { "title": "Human DNA helicase B interacts with the replication initiation protein Cdc45 and facilitates Cdc45 binding onto chromatin.", "journal": "Exp. Cell Res.", "date": "2015", "authors": "Gerhardt J, Guler GD, Fanning E", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "25933514", "url": "https://glygen.org/publication/PubMed/25933514" } ] }, { "title": "Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.", "journal": "American journal of human genetics", "date": "2016", "authors": "Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "27374770", "url": "https://glygen.org/publication/PubMed/27374770" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75419", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75419" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "CryoEM structures of human CMG-ATP\u03b3S-DNA and CMG-AND-1 complexes.", "journal": "Nucleic acids research", "date": "2020-07-09", "authors": "Rzechorzek Neil J, Hardwick Steven W, Jatikusumo Vincentius A, Chirgadze Dimitri Y, 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"O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "34700328", "url": "https://glygen.org/publication/PubMed/34700328" } ] }, { "title": "Knockdown of circular RNA hsa_circ_0062270 suppresses the progression of melanoma via downregulation of CDC45.", "journal": "Histology and histopathology", "date": "2022", "authors": "Hao T, Yang Y, He J, Bai J, Zheng Y, Luo Z", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" } ], "reference": [ { "type": "PubMed", "id": "34931691", "url": "https://glygen.org/publication/PubMed/34931691" } ] }, { "title": "Fast and efficient DNA replication with purified human proteins.", "journal": "Nature", "date": "2022-06", "authors": "Baris Yasemin, Taylor Martin R G, Aria Valentina, Yeeles Joseph T P", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "35585232", "url": "https://glygen.org/publication/PubMed/35585232" } ] }, { "title": "Systematic pan\u2011cancer analysis identifies CDC45 as having an oncogenic role in human cancers.", "journal": "Oncology reports", "date": "2022", "authors": "Lu Y, Chen X, Liu F, Yu H, Zhang Y, Du K, Nan Y, Huang Q", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" } ], "reference": [ { "type": "PubMed", "id": "36082823", "url": "https://glygen.org/publication/PubMed/36082823" } ] }, { "title": "IGF2BP2 promotes glycolysis and hepatocellular carcinoma stemness by stabilizing CDC45 mRNA via m6A modification.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2023-10", "authors": "Wu Tao, Liao Li, Wu Tao, Chen Shuai, Yi Qilin, Xu Min", "evidence": [ { "database": "RefSeq", "id": "NP_001171481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171481" } ], "reference": [ { "type": "PubMed", "id": "37985379", "url": "https://glygen.org/publication/PubMed/37985379" } ] }, { "title": "Cellular targets for activation by the E2F1 transcription factor include DNA synthesis- and G1/S-regulatory genes.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "DeGregori J, Kowalik T, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "7623816", "url": "https://glygen.org/publication/PubMed/7623816" } ] }, { "title": "The role of cellular transcription factor E2F in the regulation of cdc2 mRNA expression and cell cycle control of human hematopoietic cells.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Furukawa Y, Terui Y, Sakoe K, Ohta M, Saito M", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": 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mouse thymidine kinase gene promoter.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Dou QP, Zhao S, Levin AH, Wang J, Helin K, Pardee AB", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8288595", "url": "https://glygen.org/publication/PubMed/8288595" } ] }, { "title": "Regulation of the cyclin E gene by transcription factor E2F1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1995", "authors": "Ohtani K, DeGregori J, Nevins JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "8618861", "url": "https://glygen.org/publication/PubMed/8618861" } ] }, { "title": "A human homolog of the Schizosaccharomyces pombe rad9+ checkpoint control gene.", "journal": 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correlates with induction of dhfr gene expression during the G1 to S phase transition.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Wells JM, Illenye S, Magae J, Wu CL, Heintz NH", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9020173", "url": "https://glygen.org/publication/PubMed/9020173" } ] }, { "title": "Mitotic and G2 checkpoint control: regulation of 14-3-3 protein binding by phosphorylation of Cdc25C on serine-216.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Peng CY, Graves PR, Thoma RS, Wu Z, Shaw AS, Piwnica-Worms H", "evidence": [ { "database": "Reactome", "id": "R-HSA-176187", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-176187" } ], "reference": [ { "type": "PubMed", "id": "9278512", "url": "https://glygen.org/publication/PubMed/9278512" } ] }, { "title": "Cdc6 is regulated by E2F and is essential for DNA replication in mammalian cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Yan Z, DeGregori J, Shohet R, Leone G, Stillman B, Nevins JR, Williams RS", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9520412", "url": "https://glygen.org/publication/PubMed/9520412" } ] }, { "title": "The human homolog of Saccharomyces cerevisiae CDC45.", "journal": "J. 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Chem.", "date": "1998", "authors": "Saha P, Thome KC, Yamaguchi R, Hou Z, Weremowicz S, Dutta A", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" }, { "database": "Reactome", "id": "R-HSA-68962", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-68962" } ], "reference": [ { "type": "PubMed", "id": "9660782", "url": "https://glygen.org/publication/PubMed/9660782" } ] }, { "title": "A new model of cell cycle-regulated transcription: repression of the cyclin A promoter by CDF-1 and anti-repression by E2F.", "journal": "Oncogene", "date": "1998", "authors": "Liu N, Lucibello FC, Engeland K, Muller R", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "9662327", "url": "https://glygen.org/publication/PubMed/9662327" } ] }, { "title": "Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.", "journal": "Genome Res.", "date": "1998", "authors": "McKie JM, Wadey RB, Sutherland HF, Taylor CL, Scambler PJ", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "9724329", "url": "https://glygen.org/publication/PubMed/9724329" } ] }, { "title": "Xenopus Cdc45-dependent loading of DNA polymerase alpha onto chromatin under the control of S-phase Cdk.", "journal": "EMBO J.", "date": "1998", "authors": "Mimura S, Takisawa H", "evidence": [ { "database": "UniProtKB", "id": "O75419", "url": "https://www.uniprot.org/uniprot/O75419" } ], "reference": [ { "type": "PubMed", "id": "9755170", "url": "https://glygen.org/publication/PubMed/9755170" } ] }, { "title": "Regulation of cell growth-dependent expression of mammalian CDC6 gene by the cell cycle transcription factor E2F.", "journal": "Oncogene", "date": "1998", "authors": "Ohtani K, Tsujimoto A, 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