{ "uniprot_canonical_ac": "Q8IXL7-1", "uniprot_ac": "Q8IXL7", "uniprot_id": "MSRB3_HUMAN", "mass": { "chemical_mass": 20702.0, "monoisotopic_mass": 20702.0 }, "refseq": { "ac": "NP_001026849", "name": "methionine-R-sulfoxide reductase B3 isoform 2 precursor", "summary": "The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, "gene_names": [ { "name": "MSRB3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8IXL7", "id": "Q8IXL7" }, { "name": "DFNB74", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849", "id": "NP_001026849" }, { "name": "MSRB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849", "id": "NP_001026849" }, { "name": "PRO4487", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8IXL7", "id": "Q8IXL7" } ], "protein_names": [ { "name": "Methionine-R-sulfoxide reductase B3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8IXL7" }, { "name": "1.8.4.12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IXL7" }, { "name": "1.8.4.14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IXL7" }, { "name": "MsrB3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8IXL7" }, { "name": "methionine-R-sulfoxide reductase B3 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849", "id": "NP_001026849" }, { "name": "methionine-R-sulfoxide reductase B3, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849", "id": "NP_001026849" } ], "function": [ { "annotation": "Catalyzes the reduction of free and protein-bound methionine sulfoxide to methionine. Isoform 2 is essential for hearing.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7#function" }, { "database": "PubMed", "id": "21185009", "url": "https://glygen.org/publication/PubMed/21185009" }, { "database": "PubMed", "id": "14699060", "url": "https://glygen.org/publication/PubMed/14699060" } ] }, { "annotation": "Individuals with MSRB3 rs61921502 minor allele had increased odds for brain infarcts on MRI compared to those with no minor allele", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, { "database": "PubMed", "id": "30775993", "url": "https://glygen.org/publication/PubMed/30775993" } ] }, { "annotation": "MSRB3 promotes the progression of clear cell renal cell carcinoma via regulating endoplasmic reticulum stress.", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, { "database": "PubMed", "id": "31889586", "url": "https://glygen.org/publication/PubMed/31889586" } ] }, { "annotation": "Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residues.", "evidence": [ { "database": "UniProtKB", "id": "H0YFW5", "url": "https://www.uniprot.org/uniprot/H0YFW5#function" }, { "database": "UniProtKB", "id": "RU365044", "url": "https://www.uniprot.org/uniprot/RU365044#function" }, { "database": "UniProtKB", "id": "H7C2B7", "url": "https://www.uniprot.org/uniprot/H7C2B7#function" }, { "database": "UniProtKB", "id": "F5H199", "url": "https://www.uniprot.org/uniprot/F5H199#function" }, { "database": "UniProtKB", "id": "F5H6G9", "url": "https://www.uniprot.org/uniprot/F5H6G9#function" } ] }, { "annotation": "MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, { "database": "PubMed", "id": "32908641", "url": "https://glygen.org/publication/PubMed/32908641" } ] }, { "annotation": "The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ] }, { "annotation": "This characterization of GWAS-implicated MSRB3 protein expression in human hippocampus suggests that patterns of neuronal and vascular MsrB3 protein expression reflect or underlie pathology associated with Alzheimer disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, { "database": "PubMed", "id": "28777754", "url": "https://glygen.org/publication/PubMed/28777754" } ] }, { "annotation": "We characterise the mammalian enzyme Msr B3. There are two splice variants of this enzyme that differ only in their N-terminal signal sequence, which directs the protein to either the endoplasmic reticulum (ER) or mitochondria Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" }, { "database": "PubMed", "id": "29420254", "url": "https://glygen.org/publication/PubMed/29420254" } ] } ], "disease": [ { "disease_id": "DOID:0110523", "recommended_name": { "id": "DOID:0110523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110523", "name": "autosomal recessive nonsyndromic deafness 74", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14." }, "synonyms": [ { "id": "DOID:0110523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110523", "name": "DFNB74", "description": "" }, { "id": "DOID:0110523", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110523", "name": "autosomal recessive deafness 74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "autosomal recessive nonsyndromic hearing loss 74", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "DFNB74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "MSRB3 autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "autosomal recessive deafness 74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "autosomal recessive nonsyndromic deafness 74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "autosomal recessive nonsyndromic deafness type 74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "deafness, autosomal recessive 74", "description": "" }, { "id": "MONDO:0013386", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013386", "name": "deafness, autosomal recessive type 74", "description": "" }, { "id": "MIM:613718", "resource": "MIM", "url": "https://www.omim.org/entry/613718", "name": "Deafness, autosomal recessive, 74", "description": "Deafness, autosomal recessive, 74" } ], "evidence": [ { "id": "613718", "database": "MIM", "url": "https://www.omim.org/entry/613718" } ] } ], "snv": [ { "evidence": [ { "id": "Q8IXL7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8IXL7" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 161, "end_pos": 161, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "65463225", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S161", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] }, { "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", 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"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", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q8IXL7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXL7" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8IXL7" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"tr|F5H4C9-1|MSRB3_HUMAN Computationally mapped isoform of Methionine-R-sulfoxide reductase B3 OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=1 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65308563, "end_pos": 65278769, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541897.5", "url": "https://www.ensembl.org/id/ENST00000541897.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445051.1", "url": "https://www.ensembl.org/id/ENSP00000445051.1" } ] } }, { "isoform_ac": "F5H6G9-1", "url": "", "sequence": { "sequence": "MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQVSSSFLKTQYIAFRTPGCAKYSN", "length": 160, "header": "tr|F5H6G9-1|F5H6G9_HUMAN Computationally mapped isoform of Peptide-methionine (R)-S-oxide reductase OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=1 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65453894, "end_pos": 65278769, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540804.5", "url": "https://www.ensembl.org/id/ENST00000540804.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437623.1", "url": "https://www.ensembl.org/id/ENSP00000437623.1" } ] } }, { "isoform_ac": "F5H7C4-1", "url": "", "sequence": { "sequence": "MSAFNLLHLVTKSQPVALRACGLPSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDF", "length": 117, "header": "tr|F5H7C4-1|F5H7C4_HUMAN Computationally mapped isoform of L-methionine (R)-S-oxide reductase OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=1 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65453786, "end_pos": 65308580, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000538045.5", "url": "https://www.ensembl.org/id/ENST00000538045.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442620.1", "url": "https://www.ensembl.org/id/ENSP00000442620.1" } ] } }, { "isoform_ac": "H0YFW5-1", "url": "", "sequence": { "sequence": "XRRRLPGLSMSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQQEGPHQMLPLNLGFPGLQNCEPINFYSF", "length": 174, "header": "tr|H0YFW5-1|H0YFW5_HUMAN Computationally mapped isoform of Peptide-methionine (R)-S-oxide reductase OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=1 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65488089, "end_pos": 65278744, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541189.5", "url": "https://www.ensembl.org/id/ENST00000541189.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440722.1", "url": "https://www.ensembl.org/id/ENSP00000440722.1" } ] } }, { "isoform_ac": "H7C2B7-1", "url": "", "sequence": { "sequence": "XLRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQQEGPHQMLPLNLGFPGLQNCEPINFYSF", "length": 117, "header": "tr|H7C2B7-1|H7C2B7_HUMAN Computationally mapped isoform of Peptide-methionine (R)-S-oxide reductase OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=1 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65488089, "end_pos": 65326875, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000446731.2", "url": "https://www.ensembl.org/id/ENST00000446731.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000404903.2", "url": "https://www.ensembl.org/id/ENSP00000404903.2" } ] } }, { "isoform_ac": "Q8IXL7-1", "url": "", "sequence": { "sequence": "MSPRRTLPRPLSLCLSLCLCLCLAAALGSAQSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPADSSGTAEGGSGVASPAQADKAEL", "length": 192, "header": "sp|Q8IXL7-1|MSRB3_HUMAN Isoform 1 of Methionine-R-sulfoxide reductase B3 OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=2 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65463319, "end_pos": 65278769, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000355192.8", "url": "https://www.ensembl.org/id/ENST00000355192.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000347324.3", "url": "https://www.ensembl.org/id/ENSP00000347324.3" } ] } }, { "isoform_ac": "Q8IXL7-2", "url": "", "sequence": { "sequence": "MSAFNLLHLVTKSQPVALRACGLPSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSFHDVINSEAITFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSAALSFTPADSSGTAEGGSGVASPAQADKAEL", "length": 185, "header": "sp|Q8IXL7-2|MSRB3_HUMAN Isoform 2 of Methionine-R-sulfoxide reductase B3 OS=Homo sapiens OX=9606 GN=MSRB3 PE=1 SV=2 CANONICAL=Q8IXL7-1" }, "locus": { "chromosome": "12", "start_pos": 65463319, "end_pos": 65308580, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000614640.4", "url": "https://www.ensembl.org/id/ENST00000614640.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000481483.1", "url": "https://www.ensembl.org/id/ENSP00000481483.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "site_lbl": "Ser183" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification, expression and chromosome localization of a human gene encoding a novel protein with similarity to the pilB family of transcriptional factors (pilin) and to bacterial peptide methionine sulfoxide reductases.", "journal": "Gene", "date": "1999", "authors": "Huang W, Escribano J, Sarfarazi M, Coca-Prados M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "10375640", "url": "https://glygen.org/publication/PubMed/10375640" } ] }, { "title": "Molecular cloning and functional expression of a human peptide methionine sulfoxide reductase (hMsrA).", "journal": "FEBS letters", "date": "1999", "authors": "Kuschel L, Hansel A, Schonherr R, Weissbach H, Brot N, Hoshi T, Heinemann SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "10452521", "url": "https://glygen.org/publication/PubMed/10452521" } ] }, { "title": "New mammalian selenocysteine-containing proteins identified with an algorithm that searches for selenocysteine insertion sequence elements.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kryukov GV, Kryukov VM, Gladyshev VN", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "10567350", "url": "https://glygen.org/publication/PubMed/10567350" } ] }, { "title": "Activity, tissue distribution and site-directed mutagenesis of a human peptide methionine sulfoxide reductase of type B: hCBS1.", "journal": "FEBS letters", "date": "2002", "authors": "Jung S, Hansel A, Kasperczyk H, Hoshi T, Heinemann SH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "12220640", "url": "https://glygen.org/publication/PubMed/12220640" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Methionine sulfoxide reduction in mammals: characterization of methionine-R-sulfoxide reductases.", "journal": "Mol. Biol. Cell", "date": "2004", "authors": "Kim HY, Gladyshev VN", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "reference": [ { "type": "PubMed", "id": "14699060", "url": "https://glygen.org/publication/PubMed/14699060" } ] }, { "title": "Methionine sulfoxide reductases B1, B2, and B3 are present in the human lens and confer oxidative stress resistance to lens cells.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2005", "authors": "Hejtmancik J.F., Kantorow M., Brot N., Sagher D., Weissbach H., Deamicis C., Marchetti M.A., Pizarro G.O.", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "reference": [ { "type": "PubMed", "id": "15914630", "url": "https://glygen.org/publication/PubMed/15914630" } ] }, { "title": "Different catalytic mechanisms in mammalian selenocysteine- and cysteine-containing methionine-R-sulfoxide reductases.", "journal": "PLoS Biol.", "date": "2005", "authors": "Kim HY, Gladyshev VN", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "reference": [ { "type": "PubMed", "id": "16262444", "url": "https://glygen.org/publication/PubMed/16262444" } ] }, { "title": "Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.", "journal": "Am. J. Hum. Genet.", "date": "2011", "authors": "Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", "url": "https://www.uniprot.org/uniprot/Q8IXL7" } ], "reference": [ { "type": "PubMed", "id": "21185009", "url": "https://glygen.org/publication/PubMed/21185009" } ] }, { "title": "Methionine Sulfoxide Reductase-B3 (MsrB3) Protein Associates with Synaptic Vesicles and its Expression Changes in the Hippocampi of Alzheimer's Disease Patients.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2017", "authors": "Adams SL, Benayoun L, Tilton K, Chavez OR, Himali JJ, Blusztajn JK, Seshadri S, Delalle I", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ], "reference": [ { "type": "PubMed", "id": "28777754", "url": "https://glygen.org/publication/PubMed/28777754" } ] }, { "title": "Methionine sulfoxide reductase B3 requires resolving cysteine residues for full activity and can act as a stereospecific methionine oxidase.", "journal": "The Biochemical journal", "date": "2018", "authors": "Cao Z, Mitchell L, Hsia O, Scarpa M, Caldwell ST, Alfred AD, Gennaris A, Collet JF, Hartley RC, Bulleid NJ", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ], "reference": [ { "type": "PubMed", "id": "29420254", "url": "https://glygen.org/publication/PubMed/29420254" } ] }, { "title": "Methionine Sulfoxide Reductase-B3 Risk Allele Implicated in Alzheimer's Disease Associates with Increased Odds for Brain Infarcts.", "journal": "Journal of Alzheimer's disease : JAD", "date": "2019", "authors": "Conner SC, Benayoun L, Himali JJ, Adams SL, Yang Q, DeCarli C, Blusztajn JK, Beiser A, Seshadri S, Delalle I", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ], "reference": [ { "type": "PubMed", "id": "30775993", "url": "https://glygen.org/publication/PubMed/30775993" } ] }, { "title": "MSRB3 promotes the progression of clear cell renal cell carcinoma via regulating endoplasmic reticulum stress.", "journal": "Pathology, research and practice", "date": "2020", "authors": "Ye X, Liang T, Deng C, Li Z, Yan D", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ], "reference": [ { "type": "PubMed", "id": "31889586", "url": "https://glygen.org/publication/PubMed/31889586" } ] }, { "title": "MicroRNA-874-3p Aggravates Doxorubicin-Induced Renal Podocyte Injury via Targeting Methionine Sulfoxide Reductase B3.", "journal": "Oxidative medicine and cellular longevity", "date": "2020", "authors": "Dai Y, Gao M, Li L, Mao Z, Xu L, Yin L, Qi Y, Peng J", "evidence": [ { "database": "RefSeq", "id": "NP_001026849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026849" } ], "reference": [ { "type": "PubMed", "id": "32908641", "url": "https://glygen.org/publication/PubMed/32908641" } ] }, { "title": "Partial repair of deamidation-damaged calmodulin by protein carboxyl methyltransferase.", "journal": "The Journal of biological chemistry", "date": "1987", "authors": "Johnson BA, Langmack EL, Aswad DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "3624258", "url": "https://glygen.org/publication/PubMed/3624258" } ] }, { "title": "Characterization of three cDNAs encoding two isozymes of an isoaspartyl protein carboxyl methyltransferase from human erythroid leukemia cells.", "journal": "Journal of biochemistry", "date": "1995", "authors": "Takeda R, Mizobuchi M, Murao K, Sato M, Takahara J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5676934", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934" } ], "reference": [ { "type": "PubMed", "id": "7592526", "url": "https://glygen.org/publication/PubMed/7592526" } ] } ], "pathway": [ { "id": "hsa:253827", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:253827", "resource": "KEGG Pathway" }, { "id": "R-HSA-5676934", "name": "Protein repair", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676934", "resource": "Reactome", "description": "Protein repair" } ], "orthologs": [ { "uniprot_canonical_ac": "P25566-1", "protein_name": "Peptide methionine sulfoxide reductase 2", "gene_name": "MXR2", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MNKWSRLYVITVRRTFPGRRNIVLTQYWNKSKKMSDESNDVKWNDALTPLQLMVLRDKATERPNTGAYLHTNESGVYHCANCDRPLYSSKAKFDARCGWPAFYEEVSPGAITYHRDNSLMPARVEICCARCGGHLGHVFEGEGWKQLLNLPKDTRHCVNSASLNLKKD", "length": 168 }, "evidence": [ { "id": "Q8IXL7", "url": "https://omabrowser.org/oma/group/Q8IXL7/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q8BU85-1", "protein_name": "Methionine-R-sulfoxide reductase B3, mitochondrial", "gene_name": "Msrb3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPPAAPSVARSREGGGIGQRRLVFPKSARRTLPCPIALCLGLCLAAAAATTTRASAAAFASAGDTTAMSAFNLLHLVTKSQPVAPRACGLPSGSCRDKKNCKVVFSQQELRKRLTPLQYHVTQEKGTESAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPAFHDVISSEAIEFTDDFSYGMHRVETSCSQCGAHLGHIFDDGPRPTGKRYCINSASLSFTPADSSEAEGSGIKESGSPAAADRAEL", "length": 253 }, "evidence": [ { "id": "45227657", "url": "http://www.informatics.jax.org/homology/45227657", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "peptide-methionine (R)-S-oxide reductase activity", "id": "GO:0033743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033743", "evidence": [ { "database": "UniProtKB", "id": "Q8IXL7", 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[thioredoxin]-dithiol + L-methionyl-(R)-S-oxide-[protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q4FZX5-1", "Q52KJ8-1", "D4A650-1", "Q9Y3D2-1", "Q8IXL7-1", "Q9NZV6-1", "Q8BU85-1", "Q78J03-1", "Q9JLC3-1", "P25566-1", "Q54F32-1", "Q8INK9-1" ], "evidence": [ { "id": "24164", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/24164" } ] }, { "id": "R-HSA-5676917", "name": "MRSBs reduce L-methyl-(R)-S-oxide to L-methionine", "equation": "", "summary": "Methionine Sulfoxide Reductase B (MSRBs) are able to reduce methyl-(R)-S-oxide to methionine (Grimaud et al. 2001). They are specific for the reduction of protein-based methyl-(R)-S-oxide, reducing free methyl-(R)-S-oxide with very low efficiency (Lee et al. 2009). Mammals have at least 3 MSRB genes (Kryukov et al. 1999, Huang et al. 1999, Jung et al. 2002, Kim & Gladyshev 2004). They are ubiquitously expressed, no clear substrate specificities are known, all three contain a zinc atom and can use thioredoxin as an in vivo reducing agent (Kim & Gladyshev 2007).", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-5676932" ], "output_participant_list": [], "enzyme_list": [ "Q8IXL7-1", "Q9NZV6-1", "Q9Y3D2-1" ], "evidence": [ { "id": "R-HSA-5676917", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5676917" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-5676932", "participant_name": "L-methionine (R)-S-oxide [cytosol]", "crossref": [ { "id": "49032", "database": "ChEBI", "url": "" }, { "id": "000001529567", "database": "ZINC", "url": "" }, { "id": "000003861729", "database": "ZINC", "url": "" }, { "id": "C15998", "database": "COMPOUND", "url": "" }, { "id": "C15998", "database": "COMPOUND", "url": "" }, { "id": "000003861729", "database": "ZINC", "url": "" }, { "id": "49032", "database": "ChEBI", "url": 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