{ "uniprot_canonical_ac": "P0CG13-1", "uniprot_ac": "P0CG13", "uniprot_id": "CTF8_HUMAN", "mass": { "chemical_mass": 13314.0, "monoisotopic_mass": 13314.0 }, "refseq": { "ac": "NP_001034779", "name": "chromosome transmission fidelity protein 8 homolog", "summary": "This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" }, "gene_names": [ { "name": "CHTF8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0CG13", "id": "P0CG13" }, { "name": "CHTF8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779", "id": "NP_001034779" }, { "name": "CTF8; DERPC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779", "id": "NP_001034779" }, { "name": "CTF8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0CG13", "id": "P0CG13" } ], "protein_names": [ { "name": "Chromosome transmission fidelity protein 8 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0CG13" }, { "name": "CTF8, chromosome transmission fidelity factor 8 homolog; decreased expression in renal and prostate cancer protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779", "id": "NP_001034779" }, { "name": "chromosome transmission fidelity protein 8 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779", "id": "NP_001034779" }, { "name": "hCTF8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0CG13" } ], "function": [ { "annotation": "Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DSCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single-stranded and primed DNAs and has weak ATPase activity that is stimulated the presence of primed DNA, replication protein A (RPA) and proliferating cell nuclear antigen (PCNA). The CTF18-RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates POLH, which is suggestive of a protein network that coordinates DNA repair, recombination and chromosome cohesion reactions with replication fork progression.", "evidence": [ { "database": "UniProtKB", "id": "P0CG13", "url": "https://www.uniprot.org/uniprot/P0CG13#function" }, { "database": "PubMed", "id": "12930902", "url": "https://glygen.org/publication/PubMed/12930902" }, { "database": "PubMed", "id": "17545166", "url": "https://glygen.org/publication/PubMed/17545166" } ] }, { "annotation": "HCTF18, hCTF8, and hDCC1 interact with each other as well as with the p38 subunit of RFC", "evidence": [ { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" }, { "database": "PubMed", "id": "12766176", "url": "https://glygen.org/publication/PubMed/12766176" } ] }, { "annotation": "Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.", "evidence": [ { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" }, { "database": "PubMed", "id": "20826785", "url": "https://glygen.org/publication/PubMed/20826785" } ] }, { "annotation": "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.", "evidence": [ { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" }, { "database": "PubMed", "id": "12930902", "url": "https://glygen.org/publication/PubMed/12930902" } ] }, { "annotation": "This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018].", "evidence": [ { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs762253492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762253492" }, { "id": "rs762253492", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762253492" }, { "id": "rs762253492", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762253492" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 90, "end_pos": 90, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "16", "chr_pos": "69120522", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T90", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "95.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "92.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "92.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000168802", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000168802" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0CG13", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0CG13" } ], "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", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", 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"https://glygen.org/publication/PubMed/30379171" }, { "id": "P0CG13", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG13" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 92, "start_aa": "Thr", "end_pos": 92, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr92", "evidence": [ { "id": "P0CG13", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG13" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 97, "start_aa": "Thr", "end_pos": 97, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr97", "evidence": [ { "id": "P0CG13", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0CG13" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Characterization of telomere-binding activity of replication factor C large subunit p140.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Uchiumi F, Watanabe M, Tanuma Si", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "10329413", "url": "https://glygen.org/publication/PubMed/10329413" } ] }, { "title": "Cloning and characterization of hCTF18, hCTF8, and hDCC1. Human homologs of a Saccharomyces cerevisiae complex involved in sister chromatid cohesion establishment.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Merkle CJ, Karnitz LM, Henry-Sanchez JT, Chen J", "evidence": [ { "database": "UniProtKB", "id": "P0CG13", "url": "https://www.uniprot.org/uniprot/P0CG13" }, { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" }, { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" } ], "reference": [ { "type": "PubMed", "id": "12766176", "url": "https://glygen.org/publication/PubMed/12766176" } ] }, { "title": "The alternative Ctf18-Dcc1-Ctf8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Bermudez VP, Maniwa Y, Tappin I, Ozato K, Yokomori K, Hurwitz J", "evidence": [ { "database": "UniProtKB", "id": "P0CG13", "url": "https://www.uniprot.org/uniprot/P0CG13" }, { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" }, { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" } ], "reference": [ { "type": "PubMed", "id": "12930902", "url": "https://glygen.org/publication/PubMed/12930902" } ] }, { "title": "The reconstituted human Chl12-RFC complex functions as a second PCNA loader.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2004", "authors": "Shiomi Y, Shinozaki A, Sugimoto K, Usukura J, Obuse C, Tsurimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "15066120", "url": "https://glygen.org/publication/PubMed/15066120" } ] }, { "title": "A second proliferating cell nuclear antigen loader complex, Ctf18-replication factor C, stimulates DNA polymerase eta activity.", "journal": "The Journal of biological chemistry", "date": "2007-07-20", "authors": "Shiomi Yasushi, Masutani Chikahide, Hanaoka Fumio, Kimura Hiroshi, Tsurimoto Toshiki", "evidence": [ { "database": "UniProtKB", "id": "P0CG13", "url": "https://www.uniprot.org/uniprot/P0CG13" } ], "reference": [ { "type": "PubMed", "id": "17545166", "url": "https://glygen.org/publication/PubMed/17545166" } ] }, { "title": "Mechanism of elongation of primed DNA by DNA polymerase delta, proliferating cell nuclear antigen, and activator 1.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1990", "authors": "Lee SH, Hurwitz J", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "1974050", "url": "https://glygen.org/publication/PubMed/1974050" } ] }, { "title": "Stable interaction between the human proliferating cell nuclear antigen loader complex Ctf18-replication factor C (RFC) and DNA polymerase {epsilon} is mediated by the cohesion-specific subunits, Ctf18, Dcc1, and Ctf8.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Murakami T, Takano R, Takeo S, Taniguchi R, Ogawa K, Ohashi E, Tsurimoto T", "evidence": [ { "database": "RefSeq", "id": "NP_001034779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034779" } ], "reference": [ { "type": "PubMed", "id": "20826785", "url": "https://glygen.org/publication/PubMed/20826785" } ] }, { "title": "DNA polymerase delta stalls on telomeric lagging strand templates independently from G-quadruplex formation.", "journal": "Nucleic acids research", "date": "2013", "authors": "Lormand JD, Buncher N, Murphy CT, Kaur P, Lee MY, Burgers P, Wang H, Kunkel TA, Opresko PL", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "24038470", "url": "https://glygen.org/publication/PubMed/24038470" } ] }, { "title": "RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.", "journal": "Science (New York, N.Y.)", "date": "2013", "authors": "Vannier JB, Sandhu S, Petalcorin MI, Wu X, Nabi Z, Ding H, Boulton SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "24115439", "url": "https://glygen.org/publication/PubMed/24115439" } ] }, { "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": "P0CG13", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0CG13" }, { "database": "O-GlcNAc Atlas", "id": "P0CG13", "url": "https://oglcnac.org/atlas/detail/P0CG13" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Replication factor C recognizes 5'-phosphate ends of telomeres.", "journal": "Biochemical and biophysical research communications", "date": "1996", "authors": "Uchiumi F, Ohta T, Tanuma S", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "8954124", "url": "https://glygen.org/publication/PubMed/8954124" } ] }, { "title": "Replication factor C disengages from proliferating cell nuclear antigen (PCNA) upon sliding clamp formation, and PCNA itself tethers DNA polymerase delta to DNA.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Podust VN, Tiwari N, Stephan S, Fanning E", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "reference": [ { "type": "PubMed", "id": "9822671", "url": "https://glygen.org/publication/PubMed/9822671" } ] } ], "pathway": [ { "id": "hsa:54921", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:54921", "resource": "KEGG Pathway" }, { "id": "R-HSA-174411", "name": "Polymerase switching on the C-strand of the telomere", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411", "resource": "Reactome", "description": "Polymerase switching on the C-strand of the telomere" } ], "orthologs": [ { "uniprot_canonical_ac": "P0C6T1-1", "protein_name": "Chromosome transmission fidelity protein 8 homolog", "gene_name": "Chtf8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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