{ "uniprot_canonical_ac": "O75648-1", "uniprot_ac": "O75648", "uniprot_id": "MTU1_HUMAN", "mass": { "chemical_mass": 47745.0, "monoisotopic_mass": 47745.0 }, "refseq": { "ac": "NP_001269712", "name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform e", "summary": "This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, "gene_names": [ { "name": "TRMU", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75648", "id": "O75648" }, { "name": "LCAL3; MTO2; MTU1; TRMT; TRMT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712", "id": "NP_001269712" }, { "name": "MTU1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75648", "id": "O75648" }, { "name": "TRMT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75648", "id": "O75648" }, { "name": "TRMU", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712", "id": "NP_001269712" } ], "protein_names": [ { "name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75648" }, { "name": "2.8.1.14", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75648" }, { "name": "MTO2 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75648" }, { "name": "mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase; mitochondrial tRNA-specific 2-thiouridylase 1; MTO2 homolog; lung cancer associated lncRNA 3; tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712", "id": "NP_001269712" }, { "name": "mitochondrial tRNA-specific 2-thiouridylase 1 isoform e", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712", "id": "NP_001269712" } ], "function": [ { "annotation": "Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base.", "evidence": [ { "database": "UniProtKB", "id": "A0A2R8YFQ3", "url": "https://www.uniprot.org/uniprot/A0A2R8YFQ3#function" }, { "database": "UniProtKB", "id": "ARBA00003986", "url": "https://www.uniprot.org/uniprot/ARBA00003986#function" }, { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648#function" }, { "database": "PubMed", "id": "16826519", "url": "https://glygen.org/publication/PubMed/16826519" }, { "database": "PubMed", "id": "15944150", "url": "https://glygen.org/publication/PubMed/15944150" }, { "database": "PubMed", "id": "15509579", "url": "https://glygen.org/publication/PubMed/15509579" }, { "database": "UniProtKB", "id": "A0A2R8Y6L6", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6L6#function" }, { "database": "UniProtKB", "id": "A0A2R8Y4R7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4R7#function" } ] }, { "annotation": "Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "35467742", "url": "https://glygen.org/publication/PubMed/35467742" } ] }, { "annotation": "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Erratum:[Genet Med. 2023 Jun;25(6):100828. PMID: 37272928]", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "36305855", "url": "https://glygen.org/publication/PubMed/36305855" } ] }, { "annotation": "Identification and characterization of a mouse gene encoding one component of the enzyme complex responsible for the nucleotide modification at wobble position of mitochondrial tRNA anticodons.", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "14746906", "url": "https://glygen.org/publication/PubMed/14746906" } ] }, { "annotation": "Identification and characterization of a tRNA-modifying enzyme MTU1 (mitochondrial tRNA-specific 2-thiouridylase 1) that is responsible for the 2-thiolation of the wobble position in human and yeast mt tRNAs", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "15509579", "url": "https://glygen.org/publication/PubMed/15509579" } ] }, { "annotation": "MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "15944150", "url": "https://glygen.org/publication/PubMed/15944150" } ] }, { "annotation": "Mtu1 defects are correlated with reduced osteogenic differentiation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "33431792", "url": "https://glygen.org/publication/PubMed/33431792" } ] }, { "annotation": "TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "33485800", "url": "https://glygen.org/publication/PubMed/33485800" } ] }, { "annotation": "The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "16826519", "url": "https://glygen.org/publication/PubMed/16826519" } ] }, { "annotation": "These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" }, { "database": "PubMed", "id": "16513084", "url": "https://glygen.org/publication/PubMed/16513084" } ] }, { "annotation": "This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ] } ], "disease": [ { "disease_id": "DOID:0080778", "recommended_name": { "id": "DOID:0080778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080778", "name": "transient infantile liver failure", "description": "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13." }, "synonyms": [ { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "description": "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "acute infantile liver failure", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "LFIT", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "TRMU infantile liver failure", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "infantile liver failure caused by mutation in TRMU", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "liver failure, infantile, transient", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "liver failure, transient infantile", "description": "" }, { "id": "MONDO:0013111", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013111", "name": "transient infantile liver failure", "description": "" }, { "id": "MIM:613070", "resource": "MIM", "url": "https://www.omim.org/entry/613070", "name": "Liver failure, infantile, transient", "description": "Liver failure, infantile, transient" } ], "evidence": [ { "id": "613070", "database": "MIM", "url": "https://www.omim.org/entry/613070" } ] }, { "disease_id": "DOID:0111734", "recommended_name": { "id": "DOID:0111734", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111734", "name": "aminoglycoside-induced deafness", "description": "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31." }, "synonyms": [ { "id": "DOID:0111734", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111734", "name": "streptomycin ototoxicity", "description": "" }, { "id": "DOID:0111734", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111734", "name": "streptomycin-induced deafness", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "deafness, aminoglycoside-induced", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "aminoglycoside-induced hearing loss", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "aminoglycoside-induced deafness", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "deafness, aminoglycoside-induced", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "deafness, mitochondrial, modifier of, mitochondrial", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "deafness, streptomycin-induced", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure", "description": "" }, { "id": "MONDO:0010799", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010799", "name": "streptomycin ototoxicity", "description": "" }, { "id": "MIM:580000", "resource": "MIM", "url": "https://www.omim.org/entry/580000", "name": "Deafness, aminoglycoside-induced", "description": "Deafness, aminoglycoside-induced" } ], "evidence": [ { "id": "580000", "database": "MIM", "url": "https://www.omim.org/entry/580000" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 16, "end_pos": 16, "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "PubMed", "id": "15509579", "url": "https://glygen.org/publication/PubMed/15509579" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.03", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "75.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "89.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "71.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "83.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "68.38", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.57", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75648" } ], "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": "O75648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75648" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "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": "O75648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75648" } ], "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 cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75648", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75648" } ], "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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"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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "common_name": "Human" } ], "gene": [ { "name": "TRMU", "url": "https://www.uniprot.org/uniprot/O75648", "locus": { "chromosome": "22", "start_pos": 46357340, "end_pos": 46330875, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000100416", "url": "https://www.ensembl.org/id/ENSG00000100416" } ] } } ], "crossref": [ { "id": "ENSG00000100416", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100416", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.1.1.61", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.1.1.61&UniProtAcc=O75648", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd01998", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01998", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TRMU", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRMU", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "55687", "url": "https://www.ncbi.nlm.nih.gov/gene/55687", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "25481", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25481", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75648", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75648*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR004506", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004506", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR014729", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014729", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023382", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023382", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046884", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046884", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046885", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046885", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:55687", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55687", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "580000", "url": "http://www.omim.org/entry/580000", "database": "MIM", "categories": [ "Other" ] }, { "id": "610230", "url": "http://www.omim.org/entry/610230", "database": "MIM", "categories": [ "Other" ] }, { "id": "613070", "url": "http://www.omim.org/entry/613070", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75648", "url": "https://www.nextprot.org/entry/NX_O75648", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "AVCTGHY", "url": "https://omabrowser.org/oma/group/AVCTGHY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "231303at2759", "url": "http://www.orthodb.org/?query=231303at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11933", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11933", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11933:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11933:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03054", "url": "http://pfam.xfam.org/family/PF03054", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20258", "url": "http://pfam.xfam.org/family/PF20258", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF20259", "url": "http://pfam.xfam.org/family/PF20259", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75648", "url": "https://pharos.nih.gov/targets/O75648", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75648", "url": "http://purl.obolibrary.org/obo/PR_O75648", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "47040", "url": "https://www.rhea-db.org/rhea/47040", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8Y4R7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4R7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4R7-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4R7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6L6", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6L6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y6L6-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y6L6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDK3", "url": "https://www.uniprot.org/uniprot/A0A2R8YDK3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDK3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YDK3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YFQ3", "url": "https://www.uniprot.org/uniprot/A0A2R8YFQ3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YFQ3-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YFQ3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DZN5", "url": "https://www.uniprot.org/uniprot/B4DZN5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B4DZN5-1", "url": "https://www.uniprot.org/uniprot/B4DZN5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648-1", "url": "https://www.uniprot.org/uniprot/O75648-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648-2", "url": "https://www.uniprot.org/uniprot/O75648-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648-3", "url": "https://www.uniprot.org/uniprot/O75648-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648-4", "url": "https://www.uniprot.org/uniprot/O75648-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75648-5", "url": "https://www.uniprot.org/uniprot/O75648-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2PPL5", "url": "https://www.uniprot.org/uniprot/Q2PPL5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2PPL5-1", "url": "https://www.uniprot.org/uniprot/Q2PPL5-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL", "length": 421, "header": "sp|O75648-1|MTU1_HUMAN Isoform 1 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4R7-1", "url": "", "sequence": { "sequence": "MKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATG", "length": 331, "header": "tr|A0A2R8Y4R7-1|A0A2R8Y4R7_HUMAN Computationally mapped isoform of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46356069, "end_pos": 46337802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642923.1", "url": "https://www.ensembl.org/id/ENST00000642923.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494255.1", "url": "https://www.ensembl.org/id/ENSP00000494255.1" } ] } }, { "isoform_ac": "A0A2R8Y6L6-1", "url": "", "sequence": { "sequence": "MKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH", "length": 341, "header": "tr|A0A2R8Y6L6-1|A0A2R8Y6L6_HUMAN Computationally mapped isoform of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46356951, "end_pos": 46337802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643137.1", "url": "https://www.ensembl.org/id/ENST00000643137.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495331.1", "url": "https://www.ensembl.org/id/ENSP00000495331.1" } ] } }, { "isoform_ac": "A0A2R8YDK3-1", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLG", "length": 102, "header": "tr|A0A2R8YDK3-1|A0A2R8YDK3_HUMAN Computationally mapped isoform of tRNA mitochondrial 2-thiouridylase OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46350391, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642562.1", "url": "https://www.ensembl.org/id/ENST00000642562.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494679.1", "url": "https://www.ensembl.org/id/ENSP00000494679.1" } ] } }, { "isoform_ac": "A0A2R8YFQ3-1", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNERISLCQPGWSTVARSWLAAASTSWAQVILPPQPHQVAGTTARFPRMP", "length": 207, "header": "tr|A0A2R8YFQ3-1|MTU1_HUMAN Computationally mapped isoform of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46350365, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647301.1", "url": "https://www.ensembl.org/id/ENST00000647301.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496641.1", "url": "https://www.ensembl.org/id/ENSP00000496641.1" } ] } }, { "isoform_ac": "B4DZN5-1", "url": "", "sequence": { "sequence": "MKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNARFPRMP", "length": 131, "header": "tr|B4DZN5-1|B4DZN5_HUMAN Computationally mapped isoform of cDNA FLJ52814, highly similar to tRNA(5-methylaminomethyl-2-thiouridylate)-methyltransferase OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46350365, "end_pos": 46337802, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644006.1", "url": "https://www.ensembl.org/id/ENST00000644006.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493778.1", "url": "https://www.ensembl.org/id/ENSP00000493778.1" } ] } }, { "isoform_ac": "O75648-1", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL", "length": 421, "header": "sp|O75648-1|MTU1_HUMAN Isoform 1 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46357003, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645190.1", "url": "https://www.ensembl.org/id/ENST00000645190.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496496.1", "url": "https://www.ensembl.org/id/ENSP00000496496.1" } ] } }, { "isoform_ac": "O75648-2", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH", "length": 376, "header": "sp|O75648-2|MTU1_HUMAN Isoform 2 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46356951, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000381019.3", "url": "https://www.ensembl.org/id/ENST00000381019.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000370407.3", "url": "https://www.ensembl.org/id/ENSP00000370407.3" } ] } }, { "isoform_ac": "O75648-3", "url": "", "sequence": { "sequence": "MKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH", "length": 222, "header": "sp|O75648-3|MTU1_HUMAN Isoform 3 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "locus": {} }, { "isoform_ac": "O75648-4", "url": "", "sequence": { "sequence": "MKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL", "length": 267, "header": "sp|O75648-4|MTU1_HUMAN Isoform 4 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "locus": {} }, { "isoform_ac": "O75648-5", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNARFPRMP", "length": 166, "header": "sp|O75648-5|MTU1_HUMAN Isoform 5 of Mitochondrial tRNA-specific 2-thiouridylase 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=2 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46350365, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457572.5", "url": "https://www.ensembl.org/id/ENST00000457572.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407700.1", "url": "https://www.ensembl.org/id/ENSP00000407700.1" } ] } }, { "isoform_ac": "Q2PPL5-1", "url": "", "sequence": { "sequence": "MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWNDVFRGRCHCHRSLCKNFPGR", "length": 99, "header": "tr|Q2PPL5-1|Q2PPL5_HUMAN Computationally mapped isoform of Mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase transcript variant 1 OS=Homo sapiens OX=9606 GN=TRMU PE=1 SV=1 CANONICAL=O75648-1" }, "locus": { "chromosome": "22", "start_pos": 46346470, "end_pos": 46335765, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441818.5", "url": "https://www.ensembl.org/id/ENST00000441818.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000393014.1", "url": "https://www.ensembl.org/id/ENSP00000393014.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases.", "journal": "The EMBO journal", "date": "2002", "authors": "Suzuki T, Suzuki T, Wada T, Saigo K, Watanabe K", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "12456664", "url": "https://glygen.org/publication/PubMed/12456664" } ] }, { "title": "Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Yan Q, Guan MX", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "14746906", "url": "https://glygen.org/publication/PubMed/14746906" } ] }, { "title": "Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Umeda N, Suzuki T, Yukawa M, Ohya Y, Shindo H, Watanabe K, Suzuki T", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" }, { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "15509579", "url": "https://glygen.org/publication/PubMed/15509579" } ] }, { "title": "Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Yan Q, Li X, Faye G, Guan MX", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "15944150", "url": "https://glygen.org/publication/PubMed/15944150" } ] }, { "title": "Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2006", "authors": "Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "16513084", "url": "https://glygen.org/publication/PubMed/16513084" } ] }, { "title": "Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.", "journal": "American journal of human genetics", "date": "2006", "authors": "Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" }, { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "16826519", "url": "https://glygen.org/publication/PubMed/16826519" } ] }, { "title": "Acute infantile liver failure due to mutations in the TRMU gene.", "journal": "American journal of human genetics", "date": "2009", "authors": "Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rotig A, Tarassov I, Elpeleg O", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" }, { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "19732863", "url": "https://glygen.org/publication/PubMed/19732863" } ] }, { "title": "The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.", "journal": "Human molecular genetics", "date": "2011", "authors": "Sasarman F, Antonicka H, Horvath R, Shoubridge EA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "21890497", "url": "https://glygen.org/publication/PubMed/21890497" } ] }, { "title": "Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.", "journal": "American journal of human genetics", "date": "2012", "authors": "Ghezzi D, Baruffini E, Haack TB, Invernizzi F, Melchionda L, Dallabona C, Strom TM, Parini R, Burlina AB, Meitinger T, Prokisch H, Ferrero I, Zeviani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "22608499", "url": "https://glygen.org/publication/PubMed/22608499" } ] }, { "title": "A subcomplex of human mitochondrial RNase P is a bifunctional methyltransferase--extensive moonlighting in mitochondrial tRNA biogenesis.", "journal": "Nucleic acids research", "date": "2012", "authors": "Vilardo E, Nachbagauer C, Buzet A, Taschner A, Holzmann J, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "23042678", "url": "https://glygen.org/publication/PubMed/23042678" } ] }, { "title": "Trmt61B is a methyltransferase responsible for 1-methyladenosine at position 58 of human mitochondrial tRNAs.", "journal": "RNA (New York, N.Y.)", "date": "2012", "authors": "Chujo T, Suzuki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "23097428", "url": "https://glygen.org/publication/PubMed/23097428" } ] }, { "title": "Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.", "journal": "JIMD reports", "date": "2013", "authors": "Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, Therond P, Jacquemin E, Slama A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "23625533", "url": "https://glygen.org/publication/PubMed/23625533" } ] }, { "title": "Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.", "journal": "Human molecular genetics", "date": "2013", "authors": "Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "23814040", "url": "https://glygen.org/publication/PubMed/23814040" } ] }, { "title": "MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.", "journal": "Human mutation", "date": "2013", "authors": "Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "23929671", "url": "https://glygen.org/publication/PubMed/23929671" } ] }, { "title": "Human cells have a limited set of tRNA anticodon loop substrates of the tRNA isopentenyltransferase TRIT1 tumor suppressor.", "journal": "Molecular and cellular biology", "date": "2013", "authors": "Lamichhane TN, Mattijssen S, Maraia RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "24126054", "url": "https://glygen.org/publication/PubMed/24126054" } ] }, { "title": "Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.", "journal": "PLoS genetics", "date": "2014", "authors": "Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "24901367", "url": "https://glygen.org/publication/PubMed/24901367" } ] }, { "title": "MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.", "journal": "Human molecular genetics", "date": "2015", "authors": "Tischner C, Hofer A, Wulff V, Stepek J, Dumitru I, Becker L, Haack T, Kremer L, Datta AN, Sperl W, Floss T, Wurst W, Chrzanowska-Lightowlers Z, De Angelis MH, Klopstock T, Prokisch H, Wenz T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "25552653", "url": "https://glygen.org/publication/PubMed/25552653" } ] }, { "title": "Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.", "journal": "Nucleic acids research", "date": "2015", "authors": "Vilardo E, Rossmanith W", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "25925575", "url": "https://glygen.org/publication/PubMed/25925575" } ] }, { "title": "Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "reference": [ { "type": "PubMed", "id": "28049726", "url": "https://glygen.org/publication/PubMed/28049726" } ] }, { "title": "Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.", "journal": "Nucleic acids research", "date": "2018", "authors": "Asano K, Suzuki T, Saito A, Wei FY, Ikeuchi Y, Numata T, Tanaka R, Yamane Y, Yamamoto T, Goto T, Kishita Y, Murayama K, Ohtake A, Okazaki Y, Tomizawa K, Sakaguchi Y, Suzuki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "29390138", "url": "https://glygen.org/publication/PubMed/29390138" } ] }, { "title": "Mtu1 defects are correlated with reduced osteogenic differentiation.", "journal": "Cell death & disease", "date": "2021", "authors": "He Q, Zhao Q, Li Q, Pan R, Li X, Chen Y", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "33431792", "url": "https://glygen.org/publication/PubMed/33431792" } ] }, { "title": "TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.", "journal": "Molecular genetics and metabolism", "date": "2021", "authors": "Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "33485800", "url": "https://glygen.org/publication/PubMed/33485800" } ] }, { "title": "Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.", "journal": "Human molecular genetics", "date": "2022", "authors": "Chen C, Guan MX", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "35467742", "url": "https://glygen.org/publication/PubMed/35467742" } ] }, { "title": "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2022-10-28", "authors": "Vogel Georg F, Mozer-Glassberg Yael, Landau Yuval E, Schlieben Lea D, Prokisch Holger, Feichtinger Ren\u00e9 G, Mayr Johannes A, Brennenstuhl Heiko, Schr\u00f6ter Julian, Pechlaner Agnes, Alkuraya Fowzan S, Baker Joshua J, Barcia Giulia, Baric Ivo, Braverman Nancy, Burnyte Birute, Christodoulou John, Ciara Elzbieta, Coman David, Das Anibh M, Darin Niklas, Della Marina Adela, Distelmaier Felix, Eklund Erik A, Ersoy Melike, Fang Weiyan, Gaignard Pauline, Ganetzky Rebecca D, Gonzales Emmanuel, Howard Caoimhe, Hughes Joanne, Konstantopoulou Vassiliki, Kose Melis, Kerr Marina, Khan Aneal, Lenz Dominic, McFarland Robert, Margolis Merav Gil, Morrison Kevin, M\u00fcller Thomas, Murayama Kei, Nicastro Emanuele, Pennisi Alessandra, Peters Heidi, Piekutowska-Abramczuk Dorota, R\u00f6tig Agn\u00e8s, Santer Ren\u00e9, Scaglia Fernando, Schiff Manuel, Shagrani Mohmmad, Sharrard Mark, Soler-Alfonso Claudia, Staufner Christian, Storey Imogen, Stormon Michael, Taylor Robert W, Thorburn David R, Teles Elisa Leao, Wang Jian-She, Weghuber Daniel, Wortmann Saskia", "evidence": [ { "database": "RefSeq", "id": "NP_001269712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269712" } ], "reference": [ { "type": "PubMed", "id": "36305855", "url": "https://glygen.org/publication/PubMed/36305855" } ] }, { "title": "The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA.", "journal": "Nucleic acids research", "date": "1998", "authors": "Helm M, Brule H, Degoul F, Cepanec C, Leroux JP, Giege R, Florentz C", "evidence": [ { "database": "Reactome", "id": "R-HSA-6787450", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450" } ], "reference": [ { "type": "PubMed", "id": "9512533", "url": "https://glygen.org/publication/PubMed/9512533" } ] } ], "pathway": [ { "id": "hsa:55687", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:55687", "resource": "KEGG Pathway" }, { "id": "R-HSA-6787450", "name": "tRNA modification in the mitochondrion", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787450", "resource": "Reactome", "description": "tRNA modification in the mitochondrion" } ], "orthologs": [ { "uniprot_canonical_ac": "B1WC37-1", "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "Trmu", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"MLARYLNLIGRRSASPYRPQRLPAKFDNVIVAMSSGVDSSVAAALFAGEFPNTRGVYMQNWSESQSLDDPGKEPCYERDWRDVNRVAKHLNIRVDKVNFEQDYWIDVFEPMLRGYSEGSTPNPDIGCNKFVKFGKLREWLDEKYGTGNYWLVTGHYARVMQEMNGKGLFHLLRSIYRPKDQSYYLSQINSTVLSSLLLPIGHLTKPEVRDLAKYAGLPTAEKPDSQGICFVNNSQHGKFKNFLKHYLPSSPGDIITVDPQSGAKTTWGRHDGLWSYTIGQKVGISMPQADPNYQGTWFVSEKLRDTNEILIVRGRDNPALYSDTMRIENFSSLGPREDTINAFQNTGALTLQFRSLQVPVQIKSCKLNRSADNLDITIHLASKQRAITPGQSCCLYIDDRVLGSGPISHVNNNDTHA", "length": 417 }, "evidence": [ { "id": "O75648", "url": "https://omabrowser.org/oma/group/O75648/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9DAT5-1", "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "Trmu", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEQGVCAADKDCEDAYKVCQILDIPFHQVSYVKEYWNDVFSDFLNEYEKGRTPNPDINCNKHIKFSCFYHYAVDNLGADAVATGHYARTSLEDEEVFEQKHTKKPDGLFRNRFEVRNPVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGELTKDFVKKIAAENSLHHVLQKRESMGICFIGKRNLEHFLLQYLQPRPGKFVSIEDNTVLGTHKGWFLYTLGQRAKISGLREPWYVVEKDGTKGDVLVAPRVDHPALYRDLLRTNRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVKAVRGLALGQFAVFYKGEECLGSGKILRLGPSAYTLQKGKNRTRVAPEASSDSPGLHPTS", "length": 417 }, "evidence": [ { "id": "45926351", "url": "http://www.informatics.jax.org/homology/45926351", "database": "MGI" }, { "id": "O75648", "url": "https://omabrowser.org/oma/group/O75648/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W5B6-1", "protein_name": "Mitochondrial tRNA-specific 2-thiouridylase 1", "gene_name": "", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MIRNVVVGVSGGVDSAVSAHLLAEQGFKVLGVFMRNWDEADEVGRCSGEADLKDAEWACRQLGVELRQVNYVREYWTAVFSQFLDDYQMGLTPNPDILCNRHIKFDLFHKHALENLGYDAVATGHYARNSLGNYLEGIASNNDARLLIPADTFKDQTFFLAGISRKALQRTMFPLGDFQKSQVKDLAKKIGFQRLAKKKESTGICFVGKRNFKDFIQEYITSKRGPFLDIDSGAVVGHHEGIHQWTVGQRCRLSSFLQPYFVARKEAASNTIYVASGHNHPALLSTHIAVDPPNWLCSKSQQILSDTGSLRCRFRFQHTKPLVDCQLSISPSNTFLVELDAPLRAITPGQYAVFYDDTACLGSARILSANPLKKKNAQTQQAQAANLVS", "length": 389 }, "evidence": [ { "id": "O75648", "url": "https://omabrowser.org/oma/group/O75648/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" }, { "name": "tRNA wobble position uridine thiolation", "id": "GO:0002143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002143", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "tRNA-5-taurinomethyluridine 2-sulfurtransferase", "id": "GO:0061708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061708", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "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": "O75648", "url": "https://www.uniprot.org/uniprot/O75648" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "47040", "name": "", "equation": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "B1WC37-1", "O75648-1", "Q9DAT5-1", "Q12093-1", "Q54I63-1", "Q9W5B6-1" ], "evidence": [ { "id": "47040", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/47040" } ] }, { "id": "R-HSA-6787447", "name": "TRMU (MTO2, MTU1) transfers a sulfur atom to 5-taurinomethyluridine-34 in tRNA", "equation": "", "summary": "TRMU (MTU1) transfers a sulfur atom from L-cysteine to the 2 position of 5-taurinomethyluridine-34 in tRNAs (Umeda et al. 2005, Sasarman et al. 2011). In Escherichia coli the sulfur is transferred along a relay system of proteins from L-cysteine to uridine. It is unknown if such a relay system also exists in humans. In yeast, mutations in MTU1, the homolog of TRMU act synergistically with mutations in the homologs of GTPBP3 and MTO1 to impair mitochondrial function (Umeda et al. 2005). In humans mutations in TRMU cause mitochondrial infantile liver disease (Zeharia et al. 2009, Gaignard et al. 2013), infantile respiratory chain disease (Boczonadi et al. 2013), and modify the severity of deafness associated with mutations in mitochondrial 12S rRNA (Guan et al. 2006), however abrogation of the thiouridylase function of TRMU may not be responsible for the phenotypes (Sasarman et al. 2011).", "cellular_location": "mitochondrial matrix", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O75648-1" ], "evidence": [ { "id": "R-HSA-6787447", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6787447" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "B1WC37", "gene_name": "Trmu", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "B1WC37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1WC37" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "B1WC37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1WC37" } ] } ] }, { "uniprot_ac": "O75648", "gene_name": "TRMU", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "O75648", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75648" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "O75648", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75648" } ] } ] }, { "uniprot_ac": "Q12093", "gene_name": "SLM3", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "Q12093", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12093" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "Q12093", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12093" } ] } ] }, { "uniprot_ac": "Q54I63", "gene_name": "trmu", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "Q54I63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54I63" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "Q54I63", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54I63" } ] } ] }, { "uniprot_ac": "Q9DAT5", "gene_name": "Trmu", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "Q9DAT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DAT5" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "Q9DAT5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9DAT5" } ] } ] }, { "uniprot_ac": "Q9W5B6", "gene_name": "", "activity": [ { "ec_number": "2.8.1.14", "activity": "5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L-cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein].", "evidence": [ { "id": "Q9W5B6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5B6" } ] }, { "ec_number": "2.8.1.14", "activity": "", "evidence": [ { "id": "Q9W5B6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5B6" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "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": 25 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }