{ "uniprot_canonical_ac": "O60930-1", "uniprot_ac": "O60930", "uniprot_id": "RNH1_HUMAN", "mass": { "chemical_mass": 32064.0, "monoisotopic_mass": 32064.0 }, "refseq": { "ac": "NP_002927", "name": "ribonuclease H1 isoform 1 precursor", "summary": "This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" }, "gene_names": [ { "name": "RNASEH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60930", "id": "O60930" }, { "name": "H1RNA; PEOB2; RNH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927", "id": "NP_002927" }, { "name": "RNASEH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927", "id": "NP_002927" }, { "name": "RNH1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60930", "id": "O60930" } ], "protein_names": [ { "name": "Ribonuclease H1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60930" }, { "name": "3.1.26.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60930" }, { "name": "RNase H1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60930" }, { "name": "Ribonuclease H type II", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60930" }, { "name": "ribonuclease H type II", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927", "id": "NP_002927" }, { "name": "ribonuclease H1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927", "id": "NP_002927" } ], "function": [ { "annotation": "A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment.", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" }, { "database": "PubMed", "id": "37022517", "url": "https://glygen.org/publication/PubMed/37022517" } ] }, { "annotation": "BRCA2 deficiency reveals that oxidative stress impairs RNaseH1 function to cripple mitochondrial DNA maintenance.", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" }, { "database": "PubMed", "id": "34348152", "url": "https://glygen.org/publication/PubMed/34348152" } ] }, { "annotation": "Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224).", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930#function" }, { "database": "PubMed", "id": "10497183", "url": "https://glygen.org/publication/PubMed/10497183" }, { "database": "PubMed", "id": "21700224", "url": "https://glygen.org/publication/PubMed/21700224" } ] }, { "annotation": "Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" }, { "database": "PubMed", "id": "33396418", "url": "https://glygen.org/publication/PubMed/33396418" } ] }, { "annotation": "RNase H1 facilitates recombinase recruitment by degrading DNA-RNA hybrids during meiosis.", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" }, { "database": "PubMed", "id": "37378420", "url": "https://glygen.org/publication/PubMed/37378420" } ] }, { "annotation": "This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [provided by RefSeq, Jul 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" } ] } ], "disease": [ { "disease_id": "DOID:0111515", "recommended_name": { "id": "DOID:0111515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111515", "name": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3." }, "synonyms": [ { "id": "DOID:0111515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111515", "name": "PEOB2", "description": "" }, { "id": "DOID:0111515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111515", "name": "adult-onset CPEO with mitochondrial myopathy", "description": "" }, { "id": "DOID:0111515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111515", "name": "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy", "description": "" }, { "id": "DOID:0111515", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111515", "name": "autosomal recessive progressive external ophthalmoplegia 2", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "PEOB2", "description": "" }, { "id": "MONDO:0014656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014656", "name": "progressive external ophthalmoplegia, autosomal recessive 2", "description": "" }, { "id": "MIM:616479", "resource": "MIM", "url": "https://www.omim.org/entry/616479", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" } ], "evidence": [ { "id": "616479", "database": "MIM", "url": "https://www.omim.org/entry/616479" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "81.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "86.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.39", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.31", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "81.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171865", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171865" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60930" } ], "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, 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"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", "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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60930", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60930" } ], "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", 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"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 bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60930" } ], "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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"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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60930" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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], "sequence": { "sequence": "MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKKFATEDEAWAFVRKSASPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKPSVEPAPPVSRDTFSYMGDFVVVYTDGCCSSNGRRRPRAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGWKKNGWKTSAGKEVINKEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED", "length": 286, "header": "sp|O60930-1|RNH1_HUMAN Isoform 1 of Ribonuclease H1 OS=Homo sapiens OX=9606 GN=RNASEH1 PE=1 SV=2 CANONICAL=O60930-1" }, "isoforms": [ { "isoform_ac": "F8WBP0-1", "url": "", "sequence": { "sequence": "MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTC", "length": 43, "header": "tr|F8WBP0-1|RNH1_HUMAN Computationally mapped isoform of Ribonuclease H1 OS=Homo sapiens OX=9606 GN=RNASEH1 PE=1 SV=1 CANONICAL=O60930-1" }, "locus": { "chromosome": "2", "start_pos": 3558260, "end_pos": 3557843, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454734.1", "url": "https://www.ensembl.org/id/ENST00000454734.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411646.1", "url": "https://www.ensembl.org/id/ENSP00000411646.1" } ] } }, { "isoform_ac": "F8WD93-1", "url": "", "sequence": { "sequence": "MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTW", "length": 43, "header": "tr|F8WD93-1|RNH1_HUMAN Computationally mapped isoform of Ribonuclease H1 OS=Homo sapiens OX=9606 GN=RNASEH1 PE=1 SV=1 CANONICAL=O60930-1" }, "locus": {} }, { "isoform_ac": "O60930-1", "url": "", "sequence": { "sequence": "MSWLLFLAHRVALAALPCRRGSRGFGMFYAVRRGRKTGVFLTWNECRAQVDRFPAARFKKFATEDEAWAFVRKSASPEVSEGHENQHGQESEAKASKRLREPLDGDGHESAEPYAKHMKPSVEPAPPVSRDTFSYMGDFVVVYTDGCCSSNGRRRPRAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAIEQAKTQNINKLVLYTDSMFTINGITNWVQGWKKNGWKTSAGKEVINKEDFVALERLTQGMDIQWMHVPGHSGFIGNEEADRLAREGAKQSED", "length": 286, "header": "sp|O60930-1|RNH1_HUMAN Isoform 1 of Ribonuclease H1 OS=Homo sapiens OX=9606 GN=RNASEH1 PE=1 SV=2 CANONICAL=O60930-1" }, "locus": { "chromosome": "2", "start_pos": 3558260, "end_pos": 3545788, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000315212.4", "url": "https://www.ensembl.org/id/ENST00000315212.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000313350.3", "url": "https://www.ensembl.org/id/ENSP00000313350.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 74, "end_pos": 74, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60930" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser74" }, { "start_pos": 76, "end_pos": 76, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60930" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser76" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Properties of cloned and expressed human RNase H1.", "journal": "The Journal of biological chemistry", "date": "1999-10-01", "authors": "Wu H, Lima W F, Crooke S T", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "10497183", "url": "https://glygen.org/publication/PubMed/10497183" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O60930", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60930" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.", "journal": "Molecular cell", "date": "2011-06-24", "authors": "Skourti-Stathaki Konstantina, Proudfoot Nicholas J, Gromak Natalia", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "21700224", "url": "https://glygen.org/publication/PubMed/21700224" } ] }, { "title": "RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy.", "journal": "American journal of human genetics", "date": "2015", "authors": "Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "26094573", "url": "https://glygen.org/publication/PubMed/26094573" } ] }, { "title": "Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.", "journal": "Genes", "date": "2020", "authors": "Kierdaszuk B, Kaliszewska M, Rusecka J, Kosinska J, Bartnik E, Tonska K, Kaminska AM, Kostera-Pruszczyk A", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" } ], "reference": [ { "type": "PubMed", "id": "33396418", "url": "https://glygen.org/publication/PubMed/33396418" } ] }, { "title": "BRCA2 deficiency reveals that oxidative stress impairs RNaseH1 function to cripple mitochondrial DNA maintenance.", "journal": "Cell reports", "date": "2021", "authors": "Renaudin X, Lee M, Shehata M, Surmann EM, Venkitaraman AR", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" } ], "reference": [ { "type": "PubMed", "id": "34348152", "url": "https://glygen.org/publication/PubMed/34348152" } ] }, { "title": "A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment.", "journal": "Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico", "date": "2023-04-06", "authors": "Yi Chen, Yang Jun, Zhang Ting, Xie Shien, Li Wentao, Qin Liu, Chen Dongjuan", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" } ], "reference": [ { "type": "PubMed", "id": "37022517", "url": "https://glygen.org/publication/PubMed/37022517" } ] }, { "title": "RNase H1 facilitates recombinase recruitment by degrading DNA-RNA hybrids during meiosis.", "journal": "Nucleic acids research", "date": "2023-08-11", "authors": "Liu Chao, Wang Liying, Li Yanan, Guo Mengmeng, Hu Jun, Wang Teng, Li Mengjing, Yang Zhuo, Lin Ruoyao, Xu Wei, Chen Yinghong, Luo Mengcheng, Gao Fei, Chen Jia-Yu, Sun Qianwen, Liu Hongbin, Sun Bo, Li Wei", "evidence": [ { "database": "RefSeq", "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927" } ], "reference": [ { "type": "PubMed", "id": "37378420", "url": "https://glygen.org/publication/PubMed/37378420" } ] }, { "title": "Molecular cloning and expression of cDNA for human RNase H.", "journal": "Antisense Nucleic Acid Drug Dev.", "date": "1998", "authors": "Wu H, Lima WF, Crooke ST", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "9512096", "url": "https://glygen.org/publication/PubMed/9512096" } ] }, { "title": "Cloning, expression, and mapping of ribonucleases H of human and mouse related to bacterial RNase HI.", "journal": "Genomics", "date": "1998", "authors": "Cerritelli SM, Crouch RJ", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "9799596", "url": "https://glygen.org/publication/PubMed/9799596" } ] }, { "title": "Cloning, subcellular localization and functional expression of human RNase HII.", "journal": "Biol. Chem.", "date": "1998", "authors": "Frank P, Braunshofer-Reiter C, Poltl A, Holzmann K", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "reference": [ { "type": "PubMed", "id": "9894807", "url": "https://glygen.org/publication/PubMed/9894807" } ] } ], "pathway": [ { "id": "hsa:246243", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:246243", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O70338-1", "protein_name": "Ribonuclease H1", "gene_name": "Rnaseh1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MRWLLPLSRTVTLAVVRLRRGICGLGMFYAVRRGRRTGVFLSWSECKAQVDRFPAARFKKFATEDEAWAFVRSSSSPDGSKGQESAHEQKSQAKTSKRPREPLGEGEELPEPGPKHTRQDTEPAAVVSKDTFSYMGESVIVYTDGCCSSNGRKRARAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAIMQAKAQNISKLVLYTDSMFTINGITNWVQGWKKNGWRTSTGKDVINKEDFMELDELTQGMDIQWMHIPGHSGFVGNEEADRLAREGAKQSED", "length": 285 }, "evidence": [ { "id": "45925446", "url": "http://www.informatics.jax.org/homology/45925446", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q04740-1", "protein_name": "Ribonuclease H", "gene_name": "RNH1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MARQGNFYAVRKGRETGIYNTWNECKNQVDGYGGAIYKKFNSYEQAKSFLGQPNTTSNYGSSTHAGGQVSKPHTTQKRVHRRNRPLHYSSLTSSSACSSLSSANTNTFYSVKSNVPNIESKIFNNWKDCQAYVKHKRGITFKKFEDQLAAENFISGMSAHDYKLMNISKESFESKYKLSSNTMYNKSMNVYCDGSSFGNGTSSSRAGYGAYFEGAPEENISEPLLSGAQTNNRAEIEAVSEALKKIWEKLTNEKEKVNYQIKTDSEYVTKLLNDRYMTYDNKKLEGLPNSDLIVPLVQRFVKVKKYYELNKECFKNNGKFQIEWVKGHDGDPGNEMADFLAKKGASRR", "length": 348 }, "evidence": [ { "id": "O60930", "url": "https://omabrowser.org/oma/group/O60930/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q5BK46-1", "protein_name": "Ribonuclease H1", "gene_name": "Rnaseh1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRWLLPLFRTVTLAVVRVRRGVCGLGMFYAVRRGRRTGVFLSWSECKAQVDRFPAARFKKFATEDEAWAFVRSSSSPDGSKGQESAHVQKLQVKTSKRPREPLGEEEEPPEPGAKHTRQDTEPAALVSKDAFSYMGESVVVYTDGCCSSNGRKRARAGIGVYWGPGHPLNVGIRLPGRQTNQRAEIHAACKAITQAKAQNISKLVLYTDSMFTINGITNWVQGWKKNGWRTSTGKDVINKEDFMELDELTQGMDIQWMHIPGHSGFVGNEEADRLAREGAKQSEG", "length": 285 }, "evidence": [ { "id": "45925446", "url": "http://www.informatics.jax.org/homology/45925446", "database": "MGI" }, { "id": "O60930", "url": "https://omabrowser.org/oma/group/O60930/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q7JY33-1", "protein_name": "Ribonuclease H1", "gene_name": "rnh1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLLPRYFCWNLQRCTMAFYAVASGRRSGVYGSWAECEEQVKGFKNAKYKKFKTRQEADQFVNGCKSYAPQDVAVPLGKEKASLASWKNSIEVNKNPKYTDEWPEEDHDLAEDDLNAAMNEVEGDPKPSNSSNLPDILNRKRKGTTSGDKRNKIPRHASQVSEATGLKQVGAFQFEIDAEGYVIVYTDGSCIGNGRAGACAGYGVYFGKNHQLNAAKPVEGRVTNNVGEIQAAIHAIKTALDLGIQKLCISTDSQFLINSITLWVAGWKKRDWKLKNNQPVKNVVDFKELDKLLQENNITVKWNYVEAHKGIEGNEMADKLARQGSALYKQKNG", "length": 333 }, "evidence": [ { "id": "O60930", "url": "https://omabrowser.org/oma/group/O60930/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": 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"url": "https://www.uniprot.org/uniprot/O60930" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "DNA replication, removal of RNA primer", "id": "GO:0043137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043137", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "pmid": "" }, { "name": "RNA catabolic process", "id": "GO:0006401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006401", "evidence": [ { "database": "UniProtKB", "id": "O60930", "url": "https://www.uniprot.org/uniprot/O60930" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA 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"field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 12 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }