{ "uniprot_canonical_ac": "Q9H668-1", "uniprot_ac": "Q9H668", "uniprot_id": "STN1_HUMAN", "mass": { "chemical_mass": 42119.0, "monoisotopic_mass": 42119.0 }, "refseq": { "ac": "NP_079204", "name": "CST complex subunit STN1", "summary": "OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, "gene_names": [ { "name": "STN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H668", "id": "Q9H668" }, { "name": "OBFC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H668", "id": "Q9H668" } ], "protein_names": [ { "name": "CST complex subunit STN1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H668" }, { "name": "CST complex subunit STN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204", "id": "NP_079204" }, { "name": "Oligonucleotide/oligosaccharide-binding fold-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H668" }, { "name": "Suppressor of cdc thirteen homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H668" }, { "name": "oligonucleotide/oligosaccharide-binding fold-containing protein 1; alpha accessory factor 44; replication protein A 32 kDa subunit; suppressor of cdc thirteen homolog; oligonucleotide/oligosaccharide binding fold containing 1; STN1, CST complex subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204", "id": "NP_079204" } ], "function": [ { "annotation": "Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication.", "evidence": [ { "database": "UniProtKB", "id": "A0A8V8TNE6", "url": "https://www.uniprot.org/uniprot/A0A8V8TNE6#function" }, { "database": "UniProtKB", "id": "PIRNR036950", "url": "https://www.uniprot.org/uniprot/PIRNR036950#function" }, { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668#function" }, { "database": "PubMed", "id": "22763445", "url": "https://glygen.org/publication/PubMed/22763445" }, { "database": "PubMed", "id": "22863775", "url": "https://glygen.org/publication/PubMed/22863775" }, { "database": "PubMed", "id": "23142664", "url": "https://glygen.org/publication/PubMed/23142664" }, { "database": "PubMed", "id": "22964711", "url": "https://glygen.org/publication/PubMed/22964711" }, { "database": "PubMed", "id": "23851344", "url": "https://glygen.org/publication/PubMed/23851344" }, { "database": "PubMed", "id": "25483097", "url": "https://glygen.org/publication/PubMed/25483097" }, { "database": "PubMed", "id": "19854130", "url": "https://glygen.org/publication/PubMed/19854130" }, { "database": "PubMed", "id": "19648609", "url": "https://glygen.org/publication/PubMed/19648609" }, { "database": "UniProtKB", "id": "A0A8V8TM51", "url": "https://www.uniprot.org/uniprot/A0A8V8TM51#function" }, { "database": "UniProtKB", "id": "A0A8V8TM56", "url": "https://www.uniprot.org/uniprot/A0A8V8TM56#function" } ] }, { "annotation": "Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect telomeres from DNA degradation. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. In addition to telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668#function" }, { "database": "PubMed", "id": "19854130", "url": "https://glygen.org/publication/PubMed/19854130" }, { "database": "PubMed", "id": "19648609", "url": "https://glygen.org/publication/PubMed/19648609" } ] }, { "annotation": "Genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "17903301", "url": "https://glygen.org/publication/PubMed/17903301" } ] }, { "annotation": "Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "33941849", "url": "https://glygen.org/publication/PubMed/33941849" } ] }, { "annotation": "Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "34110109", "url": "https://glygen.org/publication/PubMed/34110109" } ] }, { "annotation": "OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "annotation": "Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "35134616", "url": "https://glygen.org/publication/PubMed/35134616" } ] }, { "annotation": "Reconstitution of a telomeric replicon organized by CST.", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "35831508", "url": "https://glygen.org/publication/PubMed/35831508" } ] }, { "annotation": "Structures of the human CST-Polalpha-primase complex bound to telomere templates.", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" }, { "database": "PubMed", "id": "35830881", "url": "https://glygen.org/publication/PubMed/35830881" } ] } ], "disease": [ { "disease_id": "MONDO:0015026", "recommended_name": { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "cerebroretinal microangiopathy with calcifications and cysts 2", "description": "Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene." }, "synonyms": [ { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "Coats plus syndrome caused by mutation in STN1", "description": "" }, { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "STN1 Coats plus syndrome", "description": "" }, { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "cerebroretinal microangiopathy with calcifications and cysts 2", "description": "" }, { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "cerebroretinal microangiopathy with calcifications and cysts type 2", "description": "" }, { "id": "MONDO:0015026", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015026", "name": "CRMCC2", "description": "" }, { "id": "MIM:617341", "resource": "MIM", "url": "https://www.omim.org/entry/617341", "name": "Cerebroretinal microangiopathy with calcifications and cysts 2", "description": "Cerebroretinal microangiopathy with calcifications and cysts 2" } ], "evidence": [ { "id": "617341", "database": "MIM", "url": "https://www.omim.org/entry/617341" } ] } ], "snv": [ { "evidence": [ { "id": "Q9H668", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H668" } ], "glycoeffect": [], "start_pos": 139, "end_pos": 139, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "10", "chr_pos": "103900103", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R139", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:4362", "recommended_name": { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix." }, "synonyms": [ { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervical neoplasm", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "cervix uteri cancer", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "neoplasm of uterine cervix", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "tumor of the Cervix Uteri", "description": "" }, { "id": "DOID:4362", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4362", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant neoplasm of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumor of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of the uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant tumour of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant uterine cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervix cancer", "description": "" }, { "id": "MIM:603956", "resource": "MIM", "url": "https://www.omim.org/entry/603956", "name": "Cervical cancer", "description": "Cervical cancer" } ] }, { "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", 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"" }, { "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": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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", 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"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", "name": "malignant tumour of the 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9H668", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H668" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPGVFLYNGHPIKQVDVLGTVIGVRERDAFYSYGVDDSTGVINCICWKKLNTESVSAAPSAARELSLTSQLKKLQETIEQKTKIEIGDTIRVRGSIRTYREEREIHATTYYKVDDPVWNIQIARMLELPTIYRKVYDQPFHSSALEKEEALSNPGALDLPSLTSLLSEKAKEFLMENRVQSFYQQELEMVESLLSLANQPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLVFQKDDGFDNLYYVTREDKDLHRKIHRIIQQDCQKPNHMEKGCHFLHILACARLSIRPGLSEAVLQQVLELLEDQSDIVSTMEHYYTAF", "length": 368, "header": "sp|Q9H668-1|STN1_HUMAN Isoform 1 of CST complex subunit STN1 OS=Homo sapiens OX=9606 GN=STN1 PE=1 SV=2 CANONICAL=Q9H668-1" }, "isoforms": [ { "isoform_ac": "A0A8V8TLL1-1", "url": "", "sequence": { "sequence": "MLELPTIYRKVYDQPFHSSALEKEEALSNPGALDLPSLTSLLSEKAKEFLMENRVQSFYQQELEMVESLLSLANQPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLVFQKDDGFDNLYYVTREDKDLHRKIHRIIQQDCQKPNHMEKGCHFLHILACARLSIRPGLSEAVLQQVLELLEDQSDIVSTMEHYYTAF", "length": 202, "header": "tr|A0A8V8TLL1-1|A0A8V8TLL1_HUMAN Computationally mapped isoform of STN1 subunit of CST complex OS=Homo sapiens OX=9606 GN=STN1 PE=1 SV=1 CANONICAL=Q9H668-1" }, "locus": { "chromosome": "10", "start_pos": 103898959, "end_pos": 103882687, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698301.1", "url": "https://www.ensembl.org/id/ENST00000698301.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513661.1", "url": "https://www.ensembl.org/id/ENSP00000513661.1" } ] } }, { "isoform_ac": "A0A8V8TLN6-1", "url": "", "sequence": { "sequence": "MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPDFSPHLYFLIIVGNGLCFPLEGSQPPPQFSIFQSGFLHSSSLQEEINSHQILALLNDLLQVYFCTMDIQ", "length": 113, "header": "tr|A0A8V8TLN6-1|A0A8V8TLN6_HUMAN Computationally mapped isoform of STN1 subunit of CST complex OS=Homo sapiens OX=9606 GN=STN1 PE=1 SV=1 CANONICAL=Q9H668-1" }, "locus": { "chromosome": "10", "start_pos": 103917594, "end_pos": 103910596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698302.1", "url": "https://www.ensembl.org/id/ENST00000698302.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513662.1", "url": "https://www.ensembl.org/id/ENSP00000513662.1" } ] } }, { "isoform_ac": "A0A8V8TM23-1", "url": "", "sequence": { "sequence": "XKTKIEIGDTIRVRGSIRTYREEREIHATTYCKHKIFLPNWWFFWMCVQ", "length": 49, "header": "tr|A0A8V8TM23-1|A0A8V8TM23_HUMAN Computationally mapped isoform of STN1 subunit of CST complex OS=Homo sapiens OX=9606 GN=STN1 PE=1 SV=1 CANONICAL=Q9H668-1" }, "locus": { "chromosome": "10", "start_pos": 103900153, "end_pos": 103900007, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472951.1", "url": "https://www.ensembl.org/id/ENST00000472951.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513625.1", "url": "https://www.ensembl.org/id/ENSP00000513625.1" } ] } }, { "isoform_ac": "A0A8V8TM51-1", "url": "", "sequence": { "sequence": "MQPGSSRCEEETPSLLWGLDPVFLAFAKLYIRDILDMKESRQVPGVFLYNGHPIKQVDVLGTVIGVRERDAFYSYGVDDSTGVINCICWKKLNTESVSAAPSAARELSLTSQLKKLQETIEQKTKIEIGDTIRVRGSIRTYREEREIHATTYYKVDDPVWNIQIARMLELPTIYRKVYDQPFHSSALEKEEALSNPGALDLPSLTSLLSEKAKEFLMENRVQSFYQQELEMVESLLSLANQPVIHSASSDQVNFKKDTTSKAIHSIFKNAIQLLQEKGLVFQKDDGFDNLYYVTREDKDLHRKIHRIIQQDCQKPNLGKFFDSKHSTITCFRKSDFQLNTSSPRWWLLRFY", "length": 351, "header": "tr|A0A8V8TM51-1|A0A8V8TM51_HUMAN Computationally mapped isoform of CST complex subunit STN1 OS=Homo sapiens OX=9606 GN=STN1 PE=1 SV=1 CANONICAL=Q9H668-1" }, "locus": { "chromosome": "10", "start_pos": 103917594, "end_pos": 103857297, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698299.1", "url": "https://www.ensembl.org/id/ENST00000698299.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513659.1", "url": "https://www.ensembl.org/id/ENSP00000513659.1" } ] } }, { "isoform_ac": "A0A8V8TM56-1", "url": "", "sequence": { "sequence": 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"kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9H668", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9H668" }, { "database": "PubMed", "id": "30796050", "url": "https://glygen.org/publication/PubMed/30796050" } ], "site_lbl": "Ser74" } ], "glycation": [], "keywords": [], "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": "The Journal of biological chemistry", "date": "2003", "authors": "Merkle CJ, Karnitz LM, Henry-Sanchez JT, Chen J", "evidence": [ { "database": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "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": "Reactome", "id": "R-HSA-174411", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174411" } ], "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": "Alterations of DNA and chromatin structures at telomeres and genetic instability in mouse cells defective in DNA polymerase alpha.", "journal": "Molecular and cellular biology", "date": "2005", "authors": "Nakamura M, Nabetani A, Mizuno T, Hanaoka F, Ishikawa F", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "16314528", "url": "https://glygen.org/publication/PubMed/16314528" } ] }, { "title": "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.", "journal": "American journal of human genetics", "date": "2006", "authors": "Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrieze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" } ], "reference": [ { "type": "PubMed", "id": "16385451", "url": "https://glygen.org/publication/PubMed/16385451" } ] }, { "title": "Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.", "journal": "BMC medical genetics", "date": "2007", "authors": "Vasan RS, Larson MG, Aragam J, Wang TJ, Mitchell GF, Kathiresan S, Newton-Cheh C, Vita JA, Keyes MJ, O'Donnell CJ, Levy D, Benjamin EJ", "evidence": [ { "database": "RefSeq", "id": "NP_079204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079204" } ], "reference": [ { "type": "PubMed", "id": "17903301", "url": "https://glygen.org/publication/PubMed/17903301" } ] }, { "title": "OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation.", "journal": "J. Biol. Chem.", "date": "2009", "authors": "Qin J., Liu D., Songyang Z., Wan M.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "19648609", "url": "https://glygen.org/publication/PubMed/19648609" } ] }, { "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": "RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway.", "journal": "Mol. Cell", "date": "2009", "authors": "Miyake Y, Nakamura M, Nabetani A, Shimamura S, Tamura M, Yonehara S, Saito M, Ishikawa F", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" }, { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "19854130", "url": "https://glygen.org/publication/PubMed/19854130" } ] }, { "title": "Molecular steps of G-overhang generation at human telomeres and its function in chromosome end protection.", "journal": "The EMBO journal", "date": "2010", "authors": "Dai X, Huang C, Bhusari A, Sampathi S, Schubert K, Chai W", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "20639858", "url": "https://glygen.org/publication/PubMed/20639858" } ] }, { "title": "The human CST complex is a terminator of telomerase activity.", "journal": "Nature", "date": "2012", "authors": "Chen LY, Redon S, Lingner J", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "22763445", "url": "https://glygen.org/publication/PubMed/22763445" } ] }, { "title": "Human CST promotes telomere duplex replication and general replication restart after fork stalling.", "journal": "EMBO J.", "date": "2012", "authors": "Wang F., Wright W.E., Chaiken M.F., Chastain P.D. II, Kasbek C., Price C.M., Stewart J.A.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "22863775", "url": "https://glygen.org/publication/PubMed/22863775" } ] }, { "title": "CDK1 differentially regulates G-overhang generation at leading- and lagging-strand telomeres in telomerase-negative cells in G2 phase.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2012", "authors": "Dai X, Huang C, Chai W", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "22871736", "url": "https://glygen.org/publication/PubMed/22871736" } ] }, { "title": "Human Stn1 protects telomere integrity by promoting efficient lagging-strand synthesis at telomeres and mediating C-strand fill-in.", "journal": "Cell Res.", "date": "2012", "authors": "Huang C., Chai W., Dai X.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "22964711", "url": "https://glygen.org/publication/PubMed/22964711" } ] }, { "title": "Human CST has independent functions during telomere duplex replication and C-strand fill-in.", "journal": "Cell Rep.", "date": "2012", "authors": "Wang F., Zhao Y., Wright W.E., Kasbek C., Price C.M., Stewart J.A.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "23142664", "url": "https://glygen.org/publication/PubMed/23142664" } ] }, { "title": "Structure of the human telomeric Stn1-Ten1 capping complex.", "journal": "PLoS ONE", "date": "2013", "authors": "Bryan C, Rice C, Harkisheimer M, Schultz DC, Skordalakes E", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "23826127", "url": "https://glygen.org/publication/PubMed/23826127" } ] }, { "title": "CST for the grand finale of telomere replication.", "journal": "Nucleus", "date": "2013", "authors": "Chen LY, Lingner J", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "23851344", "url": "https://glygen.org/publication/PubMed/23851344" } ] }, { "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": "Human CST abundance determines recovery from diverse forms of DNA damage and replication stress.", "journal": "Cell Cycle", "date": "2014", "authors": "Wang F., Stewart J., Price C.M.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "25483097", "url": "https://glygen.org/publication/PubMed/25483097" } ] }, { "title": "DNA-directed polymerase subunits play a vital role in human telomeric overhang processing.", "journal": "Mol. Cancer Res.", "date": "2015", "authors": "Loayza D., Diotti R., Kalan S., Matveyenko A.", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "25519149", "url": "https://glygen.org/publication/PubMed/25519149" } ] }, { "title": "Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.", "journal": "J. Exp. Med.", "date": "2016", "authors": "Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R", "evidence": [ { "database": "UniProtKB", "id": "Q9H668", "url": "https://www.uniprot.org/uniprot/Q9H668" } ], "reference": [ { "type": "PubMed", "id": "27432940", "url": "https://glygen.org/publication/PubMed/27432940" } ] }, { "title": "CTC1-mediated C-strand fill-in is an essential step in telomere length maintenance.", "journal": "Nucleic acids research", "date": "2017", "authors": "Feng X, Hsu SJ, Kasbek C, Chaiken M, Price CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "28334750", "url": "https://glygen.org/publication/PubMed/28334750" } ] }, { "title": "CTC1-STN1 coordinates G- and C-strand synthesis to regulate telomere length.", "journal": "Aging cell", "date": "2018", "authors": "Gu P, Jia S, Takasugi T, Smith E, Nandakumar J, Hendrickson E, Chang S", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "29774655", "url": "https://glygen.org/publication/PubMed/29774655" } ] }, { "title": "CTC1-STN1 terminates telomerase while STN1-TEN1 enables C-strand synthesis during telomere replication in colon cancer cells.", "journal": "Nature communications", "date": "2018", "authors": "Feng X, Hsu SJ, Bhattacharjee A, Wang Y, Diao J, Price CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-174430", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174430" } ], "reference": [ { "type": "PubMed", "id": "30026550", "url": 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