{ "uniprot_canonical_ac": "O75570-1", "uniprot_ac": "O75570", "uniprot_id": "RF1M_HUMAN", "mass": { "chemical_mass": 52306.0, "monoisotopic_mass": 52306.0 }, "refseq": { "ac": "NP_004285", "name": "peptide chain release factor 1, mitochondrial", "summary": "The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" }, "gene_names": [ { "name": "MTRF1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75570", "id": "O75570" }, { "name": "MRF1; MTTRF1; RF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285", "id": "NP_004285" }, { "name": "MTRF1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285", "id": "NP_004285" }, { "name": "hCG_32761", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75570", "id": "O75570" } ], "protein_names": [ { "name": "Peptide chain release factor 1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75570" }, { "name": "MRF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75570" }, { "name": "MtRF-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75570" }, { "name": "mitochontrial peptide chain release factor 1; mitochondrial translational release factor 1; MRF-1; mtRF-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285", "id": "NP_004285" }, { "name": "peptide chain release factor 1, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285", "id": "NP_004285" } ], "function": [ { "annotation": "Human mitochondria require mtRF1 for translation termination at non-canonical stop codons. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" }, { "database": "PubMed", "id": "36596788", "url": "https://glygen.org/publication/PubMed/36596788" } ] }, { "annotation": "Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" }, { "database": "PubMed", "id": "36302763", "url": "https://glygen.org/publication/PubMed/36302763" } ] }, { "annotation": "Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-canonical stop codons AGG and AGA (PubMed:36302763, PubMed:36596788, PubMed:37141370). Non-canonical termination codons AGG and AGA are found at the end of MT-CO1/COX1 and MT-ND6/ND6 open reading frames, respectively (PubMed:37141370). Recognizes non-canonical stop codons via a network of interactions between the codon, MTRF1 and the ribosomal RNA (rRNA): in contrast to other translation release factors, which identify the codon in the A-site via direct interactions of amino acid side chains with the bases, MTRF1 repositions the first 2 bases of the stop codon to use an intricate network of interactions that includes residues of the release factor, the rRNA of the small ribosomal subunit, as well as neighboring bases of the mRNA (PubMed:37141370).", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570#function" }, { "database": "PubMed", "id": "37141370", "url": "https://glygen.org/publication/PubMed/37141370" }, { "database": "PubMed", "id": "36302763", "url": "https://glygen.org/publication/PubMed/36302763" }, { "database": "PubMed", "id": "36596788", "url": "https://glygen.org/publication/PubMed/36596788" } ] }, { "annotation": "Molecular basis of translation termination at noncanonical stop codons in human mitochondria.", "evidence": [ { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" }, { "database": "PubMed", "id": "37141370", "url": "https://glygen.org/publication/PubMed/37141370" } ] }, { "annotation": "Purified mtRF1 did not induce translation termination in vitro nor did mtRF1 restore mitochondrial translation machinery in mutated S. cerevisiae in vivo. A different mtRF, mtRF1a, was found.", "evidence": [ { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" }, { "database": "PubMed", "id": "17803939", "url": "https://glygen.org/publication/PubMed/17803939" } ] }, { "annotation": "The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" } ] } ], "disease": [], "snv": [], "mutagenesis": [ { "start_pos": 311, "end_pos": 312, "sequence_org": "GG", "sequence_mut": "AA", "comment": "Impaired mitochondrial peptide chain release factor activity.", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "PubMed", "id": "36596788", "url": "https://glygen.org/publication/PubMed/36596788" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "69.75", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "74.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "56.64", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "56.62", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.49", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000120662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000120662" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75570", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75570" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75570", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75570" } ], "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", 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"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", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75570", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75570" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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OX=9606 GN=MTRF1 PE=1 SV=1 CANONICAL=O75570-1" }, "locus": { "chromosome": "13", "start_pos": 41260586, "end_pos": 41252610, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000480434.5", "url": "https://www.ensembl.org/id/ENST00000480434.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000482339.1", "url": "https://www.ensembl.org/id/ENSP00000482339.1" } ] } }, { "isoform_ac": "A0A087X1S1-1", "url": "", "sequence": { "sequence": "MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKRDRVLLCGPGWNAVV", "length": 153, "header": "tr|A0A087X1S1-1|A0A087X1S1_HUMAN Computationally mapped isoform of Mitochondrial translation release factor 1 OS=Homo sapiens OX=9606 GN=MTRF1 PE=1 SV=1 CANONICAL=O75570-1" }, "locus": { "chromosome": "13", "start_pos": 41260907, "end_pos": 41257754, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000497679.6", "url": "https://www.ensembl.org/id/ENST00000497679.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000484414.1", "url": "https://www.ensembl.org/id/ENSP00000484414.1" } ] } }, { "isoform_ac": "O75570-1", "url": "", "sequence": { "sequence": "MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYKHWQFELLNYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDLRIDTFRAKGAGGQHVNKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQVGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKEFLCGGKGLDQLIQRLLQSADEEAIAELLDEHLKSAK", "length": 445, "header": "sp|O75570-1|RF1M_HUMAN Isoform 1 of Peptide chain release factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=MTRF1 PE=1 SV=2 CANONICAL=O75570-1" }, "locus": { "chromosome": "13", "start_pos": 41260907, "end_pos": 41217118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000379480.9", "url": "https://www.ensembl.org/id/ENST00000379480.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000368793.3", "url": "https://www.ensembl.org/id/ENSP00000368793.3" } ] } }, { "isoform_ac": "O75570-2", "url": "", "sequence": { "sequence": "MGNGEVVLFSDAEMNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYKHWQFELLNYTPADYGGLHHAAARISGDGVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKLDPKDLRIDTFRAKGAGGQHVNKTDSAVRLVHIPTGLVVECQQERSQIKNKEIAFRVLRARLYQQIIEKDKRQQQSARKLQVGTRAQSERIRTYNFTQDRVSDHRIAYEVRDIKAQSHSTGGSRDPAHSTFLSLDSVRSPGILIMTSSVRNFYVVGRAWIS", "length": 468, "header": "sp|O75570-2|RF1M_HUMAN Isoform 2 of Peptide chain release factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=MTRF1 PE=1 SV=2 CANONICAL=O75570-1" }, "locus": {} }, { "isoform_ac": "Q8N6Z2-1", "url": "", "sequence": { "sequence": "MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKKTESCSVAQAGMQ", "length": 151, "header": "tr|Q8N6Z2-1|RF1M_HUMAN Computationally mapped isoform of Peptide chain release factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=MTRF1 PE=1 SV=1 CANONICAL=O75570-1" }, "locus": { "chromosome": "13", "start_pos": 41260907, "end_pos": 41257759, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000239852.10", "url": "https://www.ensembl.org/id/ENST00000239852.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000481161.1", "url": "https://www.ensembl.org/id/ENSP00000481161.1" } ] } }, { "isoform_ac": "X6RFD4-1", "url": "", "sequence": { "sequence": "MNRHLCVWLFRHPSLNGYLQCHIQLHSHQFRQIHLDTRLQVFRQNRNCILHLLSKNWSRRYCHQDTKMLWKHKALQKYMENLSKEYQTLEQCLQHIPVNEENRRSLNRRHAELAPLAAIYQEIQETEQAIEELESMCKSLNKQDEKQLQELALEERQTIDQKINMLYNELFQSLVPKEKYDKNDVILEVTAGRTTGGDICQQFTREIFDMYQNYSCYKHWQFELLN", "length": 226, "header": "tr|X6RFD4-1|RF1M_HUMAN Computationally mapped isoform of Peptide chain release factor 1, mitochondrial OS=Homo sapiens OX=9606 GN=MTRF1 PE=1 SV=1 CANONICAL=O75570-1" }, "locus": { "chromosome": "13", "start_pos": 41260907, "end_pos": 41252664, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452359.5", "url": "https://www.ensembl.org/id/ENST00000452359.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000399279.1", "url": "https://www.ensembl.org/id/ENSP00000399279.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.", "journal": "Mol. Cell", "date": "2007", "authors": "Soleimanpour-Lichaei HR, Kuhl I, Gaisne M, Passos JF, Wydro M, Rorbach J, Temperley R, Bonnefoy N, Tate W, Lightowlers R, Chrzanowska-Lightowlers Z", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" } ], "reference": [ { "type": "PubMed", "id": "17803939", "url": "https://glygen.org/publication/PubMed/17803939" } ] }, { "title": "Structure based hypothesis of a mitochondrial ribosome rescue mechanism.", "journal": "Biol. Direct", "date": "2012", "authors": "Huynen MA, Duarte I, Chrzanowska-Lightowlers ZM, Nabuurs SB", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "reference": [ { "type": "PubMed", "id": "22569235", "url": "https://glygen.org/publication/PubMed/22569235" } ] }, { "title": "Mammalian HEMK1 methylates glutamine residue of the GGQ motif of mitochondrial release factors.", "journal": "Scientific reports", "date": "2022", "authors": "Fang Q, Kimura Y, Shimazu T, Suzuki T, Yamada A, Dohmae N, Iwasaki S, Shinkai Y", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "reference": [ { "type": "PubMed", "id": "35260756", "url": "https://glygen.org/publication/PubMed/35260756" } ] }, { "title": "Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control.", "journal": "Nature communications", "date": "2022-10-27", "authors": "Nadler Franziska, Lavdovskaia Elena, Krempler Angelique, Cruz-Zaragoza Luis Daniel, Dennerlein Sven, Richter-Dennerlein Ricarda", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" } ], "reference": [ { "type": "PubMed", "id": "36302763", "url": "https://glygen.org/publication/PubMed/36302763" } ] }, { "title": "Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.", "journal": "Nature communications", "date": "2023-01-03", "authors": "Kr\u00fcger Annika, Remes Cristina, Shiriaev Dmitrii Igorevich, Liu Yong, Sp\u00e5hr Henrik, Wibom Rolf, Atanassov Ilian, Nguyen Minh Duc, Cooperman Barry S, Rorbach Joanna", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" } ], "reference": [ { "type": "PubMed", "id": "36596788", "url": "https://glygen.org/publication/PubMed/36596788" } ] }, { "title": "Molecular basis of translation termination at noncanonical stop codons in human mitochondria.", "journal": "Science (New York, N.Y.)", "date": "2023-05-05", "authors": "Saurer Martin, Leibundgut Marc, Nadimpalli Hima Priyanka, Scaiola Alain, Sch\u00f6nhut Tanja, Lee Richard G, Siira Stefan J, Rackham Oliver, Dreos Ren\u00e9, Lenar\u010di\u010d Tea, Kummer Eva, Gatfield David, Filipovska Aleksandra, Ban Nenad", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "RefSeq", "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285" } ], "reference": [ { "type": "PubMed", "id": "37141370", "url": "https://glygen.org/publication/PubMed/37141370" } ] }, { "title": "Identification and cloning of human mitochondrial translational release factor 1 and the ribosome recycling factor.", "journal": "Biochim. Biophys. Acta", "date": "1998", "authors": "Zhang Y, Spremulli LL", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "reference": [ { "type": "PubMed", "id": "9838146", "url": "https://glygen.org/publication/PubMed/9838146" } ] } ], "pathway": [ { "id": "hsa:9617", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9617", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F1RJ87-1", "protein_name": "Mitochondrial translation release factor 1", "gene_name": "MTRF1", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MNRHLYVWLCRHPSLHRHRQCHVHLRSHRLTQTHLDTRPGAFRQDRNHLLCRLLNKSWSRRYCHQDTRMQWRHKALQKYMEDLSKEYQTLDRCLQHISAPEGDRRSLNRRHAELAPLAVIYKEIQEAEQAIEELESMCKSLNKQDEKQLQELALEEKRTIAQKINMLYHELFQSLVPKEKYDKNDVILEVTSGRTTGGDICQQFTREIFDMYQNYSSYKHWTFELLNYTPADYGGLHHAAARISGANVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKVDPKDLRIDTFRAKGAGGQHVNTTDSAVRLVHVPTGLVVECQQERSQIKNKEIALRVLRARLYQQIIEKEKCQQQSARKLQVGTRAQSERIRTYNFTQDRVTDHRIAYEVRNIKEFLCGEKCLDLLIQRLLQTADEEAITEFLDENLKSAK", "length": 446 }, "evidence": [ { "id": "O75570", "url": "https://omabrowser.org/oma/group/O75570/", "database": "OMA" } ], "common_name": "Pig" }, { "uniprot_canonical_ac": "M0RDC8-1", "protein_name": "Mitochondrial translation release factor 1", "gene_name": "Mtrf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSFHLCVWLFRNLSSLSACSQRHVFLYGQQFRQINLDPRLWNFRQNKTHVLYRLLNKSWSRGYCQGTRKLWKHKALQKYMEGLNDEYQSLDQCLQDISEDEGDRRASHRRHAELAPLVAVYQEIQEAEQAIEELESMCKSLNKQDEKQLQELVSEERQIIDQKIHRLYSELLEHLVPKEKCDRSNVILEVTSGRTTGGDICQQFTREIFDMYQNYSYYKHWRFELLNYTPADYGGLHHAAARISGDSVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKVDPRDLRVDTFRARGAGGQHVNTTDSAVRLVHIPTGLVVECQQERSQLKNKEIALRVLRARLYQQIIEKDKCQQQNARKLQVGTRAQSERIRTYNFTQDRVTDHRIAYEVRDIKEFLRGEKCLDQLIERLLQSADEEAIAEFLDESLQSVK", "length": 446 }, "evidence": [ { "id": "45930800", "url": "http://www.informatics.jax.org/homology/45930800", "database": "MGI" }, { "id": "O75570", "url": "https://omabrowser.org/oma/group/O75570/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8K126-1", "protein_name": "Peptide chain release factor 1, mitochondrial", "gene_name": "Mtrf1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSHHLCIWLFRNPFLRACPQRHVFLSCQQFRQISLDTRPWNFRQKKTHVLYQLLNKSWSRGCCHQGTRKLWKHKALQKYMEDLNKEYQTLDQCLQGISENEGDRRALHRRHAQLAPLAAVYQEIQEAEQAIEELESLCKSLNKQDEKQLQELVSEERQIIDQKIHRLYSELLERLVPKEKYDWSDVILEVTSGRTTGGDICQQFTREIFDMYQNYSYYKHWKFELLNYTPADYGGLHHAAARISGDSVYKHLKYEGGIHRVQRIPEVGLSSRMQRIHTGTMSVIVLPQPDEVDVKVDPKDLRVDTFRARGAGGQHVNTTDSAVRLVHIPTGLVVECQQERSQLKNKEIALRVLRARLYQQIIEKDRCQQQNARKLQVGTRAQSERIRTYNFTQDRVTDHRIAYEVRDIKEFLRGEKCLDQLIERLLQSADEEAISEFLDESLQSVK", "length": 446 }, "evidence": [ { "id": "45930800", "url": "http://www.informatics.jax.org/homology/45930800", "database": "MGI" }, { "id": "O75570", "url": "https://omabrowser.org/oma/group/O75570/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "translational termination", "id": "GO:0006415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006415", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "pmid": "" }, { "name": "mitochondrial translational termination", "id": "GO:0070126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070126", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "translation release factor activity", "id": "GO:0003747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003747", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "pmid": "" }, { "name": "translation release factor activity, codon specific", "id": "GO:0016149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016149", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 213, "end_pos": 215, "annotation": "n_glycosylation_sequon" }, { "start_pos": 226, "end_pos": 228, "annotation": "n_glycosylation_sequon" }, { "start_pos": 316, "end_pos": 318, "annotation": "n_glycosylation_sequon" }, { "start_pos": 389, "end_pos": 391, "annotation": "n_glycosylation_sequon" }, { "start_pos": 56, "end_pos": 58, "annotation": "n_glycosylation_sequon" }, { "start_pos": 81, "end_pos": 83, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Methylation of glutamine in the GGQ triplet by HEMK1 is conserved from bacteria to mammals.", "evidence": [ { "database": "UniProtKB", "id": "O75570", "url": "https://www.uniprot.org/uniprot/O75570" }, { "database": "PubMed", "id": "35260756", "url": "https://glygen.org/publication/PubMed/35260756" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 213, "end_pos": 215 }, { "start_pos": 226, "end_pos": 228 }, { "start_pos": 316, "end_pos": 318 }, { "start_pos": 389, "end_pos": 391 }, { "start_pos": 56, "end_pos": 58 }, { "start_pos": 81, "end_pos": 83 } ] }, "section_stats": [ { "table_id": "glycosylation", "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_reported", "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_reported_with_glycan", "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "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": 7 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }