{ "uniprot_canonical_ac": "O95900-1", "uniprot_ac": "O95900", "uniprot_id": "TRUB2_HUMAN", "mass": { "chemical_mass": 36694.0, "monoisotopic_mass": 36694.0 }, "refseq": { "ac": "NP_001316790", "name": "pseudouridylate synthase TRUB2, mitochondrial isoform 2", "summary": "Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790" }, "gene_names": [ { "name": "TRUB2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95900", "id": "O95900" }, { "name": "CLONE24922", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790", "id": "NP_001316790" }, { "name": "TRUB2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790", "id": "NP_001316790" } ], "protein_names": [ { "name": "Pseudouridylate synthase TRUB2, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95900" }, { "name": "5.4.99.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95900" }, { "name": "5.4.99.25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95900" }, { "name": "Psi55 synthase TRUB2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95900" }, { "name": "TruB pseudouridine synthase homolog 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95900" }, { "name": "probable tRNA pseudouridine synthase 2; TruB pseudouridine (psi) synthase family member 2; TruB pseudouridine (psi) synthase homolog 2; mitochondrial mRNA pseudouridine synthase TRUB2; psi55 synthase TRUB2; tRNA pseudouridine 55 synthase TRUB2; truB pseudouridine synthase homolog 2; pseudouridylate synthase TRUB2, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790", "id": "NP_001316790" }, { "name": "pseudouridylate synthase TRUB2, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790", "id": "NP_001316790" }, { "name": "tRNA pseudouridine 55 synthase TRUB2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95900" } ], "function": [ { "annotation": "Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.", "evidence": [ { "database": "RefSeq", "id": "NP_001316790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790" }, { "database": "PubMed", "id": "33023933", "url": "https://glygen.org/publication/PubMed/33023933" } ] }, { "annotation": "Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379, PubMed:31477916). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664). Also catalyzes pseudouridylation of some tRNAs, including synthesis of pseudouridine(55) from uracil-55, in the psi GC loop of a subset of tRNAs (PubMed:33023933).", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900#function" }, { "database": "PubMed", "id": "27974379", "url": "https://glygen.org/publication/PubMed/27974379" }, { "database": "PubMed", "id": "27667664", "url": "https://glygen.org/publication/PubMed/27667664" }, { "database": "PubMed", "id": "33023933", "url": "https://glygen.org/publication/PubMed/33023933" }, { "database": "PubMed", "id": "31477916", "url": "https://glygen.org/publication/PubMed/31477916" } ] }, { "annotation": "Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001316790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.4", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "87.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167112", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167112" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95900", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95900" } ], "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", 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "O95900-2", "url": "https://www.uniprot.org/uniprot/O95900-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSAGLSRLHGLFAVYKPPGLKWKHLRDTVELQLLKGLNARKPPAPKQRVRFLLGPMEGSEEKELTLTATSVPSFINHPLVCGPAFAHLKVGVGHRLDAQASGVLVLGVGHGCRLLTDMYNAHLTKDYTVRGLLGKATDDFREDGRLVEKTTYDHVTREKLDRILAVIQGSHQKALVMYSNLDLKTQEAYEMAVRGLIRPMNKSPMLITGIRCLYFAPPEFLLEVQCMHETQKELRKLVHEIGLELKTTAVCTQVRRTRDGFFTLDSALLRTQWDLTNIQDAIRAATPQVAAELEKSLSPGLDTKQLPSPGWSWDSQGPSSTLGLERGAGQ", "length": 331, "header": "sp|O95900-1|TRUB2_HUMAN Isoform 1 of Pseudouridylate synthase TRUB2, mitochondrial OS=Homo sapiens OX=9606 GN=TRUB2 PE=1 SV=1 CANONICAL=O95900-1" }, "isoforms": [ { "isoform_ac": "O95900-1", "url": "", "sequence": { "sequence": "MGSAGLSRLHGLFAVYKPPGLKWKHLRDTVELQLLKGLNARKPPAPKQRVRFLLGPMEGSEEKELTLTATSVPSFINHPLVCGPAFAHLKVGVGHRLDAQASGVLVLGVGHGCRLLTDMYNAHLTKDYTVRGLLGKATDDFREDGRLVEKTTYDHVTREKLDRILAVIQGSHQKALVMYSNLDLKTQEAYEMAVRGLIRPMNKSPMLITGIRCLYFAPPEFLLEVQCMHETQKELRKLVHEIGLELKTTAVCTQVRRTRDGFFTLDSALLRTQWDLTNIQDAIRAATPQVAAELEKSLSPGLDTKQLPSPGWSWDSQGPSSTLGLERGAGQ", "length": 331, "header": "sp|O95900-1|TRUB2_HUMAN Isoform 1 of Pseudouridylate synthase TRUB2, mitochondrial OS=Homo sapiens OX=9606 GN=TRUB2 PE=1 SV=1 CANONICAL=O95900-1" }, "locus": { "chromosome": "9", "start_pos": 128322408, "end_pos": 128309553, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372890.6", "url": "https://www.ensembl.org/id/ENST00000372890.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000361982.4", "url": "https://www.ensembl.org/id/ENSP00000361982.4" } ] } }, { "isoform_ac": "O95900-2", "url": "", "sequence": { "sequence": "MEGSEEKELTLTATSVPSFINHPLVCGPAFAHLKVGVGHRLDAQASGVLVLGVGHGCRLLTDMYNAHLTKDYTVRGLLGKATDDFREDGRLVEKTTYDHVTREKLDRILAVIQGSHQKALVMYSNLDLKTQEAYEMAVRGLIRPMNKSPMLITGIRCLYFAPPEFLLEVQCMHETQKELRKLVHEIGLELKTTAVCTQVRRTRDGFFTLDSALLRTQWDLTNIQDAIRAATPQVAAELEKSLSPGLDTKQLPSPGWSWDSQGPSSTLGLERGAGQ", "length": 275, "header": "sp|O95900-2|TRUB2_HUMAN Isoform 2 of Pseudouridylate synthase TRUB2, mitochondrial OS=Homo sapiens OX=9606 GN=TRUB2 PE=1 SV=1 CANONICAL=O95900-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.", "journal": "Int. J. Mol. Med.", "date": "2003", "authors": "Zucchini C, Strippoli P, Biolchi A, Solmi R, Lenzi L, D'Addabbo P, Carinci P, Valvassori L", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "reference": [ { "type": "PubMed", "id": "12736709", "url": "https://glygen.org/publication/PubMed/12736709" } ] }, { "title": "A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.", "journal": "Cell metabolism", "date": "2016", "authors": "Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "reference": [ { "type": "PubMed", "id": "27667664", "url": "https://glygen.org/publication/PubMed/27667664" } ] }, { "title": "A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.", "journal": "EMBO reports", "date": "2017", "authors": "Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "reference": [ { "type": "PubMed", "id": "27974379", "url": "https://glygen.org/publication/PubMed/27974379" } ] }, { "title": "The pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules.", "journal": "J. Biol. Chem.", "date": "2017", "authors": "Zaganelli S, Rebelo-Guiomar P, Maundrell K, Rozanska A, Pierredon S, Powell CA, Jourdain AA, Hulo N, Lightowlers RN, Chrzanowska-Lightowlers ZM, Minczuk M, Martinou JC", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "reference": [ { "type": "PubMed", "id": "28082677", "url": "https://glygen.org/publication/PubMed/28082677" } ] }, { "title": "mRNA structure determines modification by pseudouridine synthase 1.", "journal": "Nature chemical biology", "date": "2019", "authors": "Carlile TM, Martinez NM, Schaening C, Su A, Bell TA, Zinshteyn B, Gilbert WV", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "reference": [ { "type": "PubMed", "id": "31477916", "url": "https://glygen.org/publication/PubMed/31477916" } ] }, { "title": "Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.", "journal": "RNA (New York, N.Y.)", "date": "2021", "authors": "Mukhopadhyay S, Deogharia M, Gupta R", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" }, { "database": "RefSeq", "id": "NP_001316790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316790" } ], "reference": [ { "type": "PubMed", "id": "33023933", "url": "https://glygen.org/publication/PubMed/33023933" } ] } ], "pathway": [ { "id": "hsa:26995", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:26995", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q29QN4-1", "protein_name": "IP08469p", "gene_name": "Dmel\\CG7849", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MALTKVYDAATVFKHMNGILNVYKPSGMKVKHVRNAILSNICKGLNEMEQRKPRKLQENISLLGTGTAADHVLHNIGEQTDLSDHLLSTGPRYLPRDLICTTVSSLGDHTSGVLLFGINRGAGQSSSIRKNRPVRVYHLIGHLGIATENNLPDSRVIMRSNHRHVSADRISSLAASMQASHQRKMFELCGVDLQTQEAYELACRGLLRPADDSQPVVYGIKLIHFDRPHFTLELHAINETQEYLATLVHDMALDLRTVAHCSQLRCVRHAHFDVTDSLLRHAWHLPGIIKNLRQQRDILRAHPQLLRQQRVELRATD", "length": 317 }, "evidence": [ { "id": "O95900", "url": "https://omabrowser.org/oma/group/O95900/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "Q5XFW2-1", "protein_name": "Pseudouridylate synthase TRUB2, mitochondrial", "gene_name": "Trub2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"MGSSGLARLQGLFAVYKPPGLKWLHLRETVELQLLKGLNAQQPPAPDQRVRFLLGPVEGSEEKKLTLRATNVPSLTTHRLVRGPAFTNLKIGVGHRLDVQASGVLVLAVGHGRSLLTDMYDAHLTKDYTVRGLLGKATDNFCEDGRLIEKTTYDHVTRERLDRILAVIQGSHQKALVMYSNLDLKSQEAYEMAVQGVIRPMNKSPMLISGIRCLHFAPPEFLLEVQCMHETQQQLRKLVHEIGLELKTSAVCTQVRRTRDGFFGLDDALLRTQWDLHNIQDAIQAAAPRVAAELQKNLSLKLGHHQLPSTGQPWGLKDPSSTLELESCSGQ", "length": 331 }, "evidence": [ { "id": "45927737", "url": "http://www.informatics.jax.org/homology/45927737", "database": "MGI" }, { "id": "O95900", "url": "https://omabrowser.org/oma/group/O95900/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "pmid": "" }, { "name": "pseudouridine synthase activity", "id": "GO:0009982", "url": 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"name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "pmid": "" }, { "name": "mRNA pseudouridine synthesis", "id": "GO:1990481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990481", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial translation", "id": "GO:0070131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070131", "evidence": [ { "database": "UniProtKB", "id": "O95900", "url": "https://www.uniprot.org/uniprot/O95900" } ], "pmid": "" } ] } ] }, "pro_annotation": [], 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