{ "uniprot_canonical_ac": "A0A8I5ZLR7-1", "uniprot_ac": "A0A8I5ZLR7", "uniprot_id": "A0A8I5ZLR7_RAT", "mass": { "chemical_mass": 24740.0, "monoisotopic_mass": 24740.0 }, "refseq": {}, "gene_names": [ { "name": "Tsr2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7", "id": "A0A8I5ZLR7" } ], "protein_names": [ { "name": "Pre-rRNA-processing protein TSR2 homolog", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A8I5ZLR7" } ], "function": [ { "annotation": "May be involved in 20S pre-rRNA processing.", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLR7", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7#function" }, { "database": "UniProtKB", "id": "ARBA00002210", "url": "https://www.uniprot.org/uniprot/ARBA00002210#function" }, { "database": "UniProtKB", "id": "A0A8I6A4W3", "url": "https://www.uniprot.org/uniprot/A0A8I6A4W3#function" } ] } ], "disease": [ { "disease_id": "DOID:0111897", "recommended_name": { "id": "DOID:0111897", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111897", "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "description": "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22." }, "synonyms": [ { "id": "DOID:0111897", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111897", "name": "DBA14", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "description": "Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene." }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessive", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anaemia caused by mutation in TSR2", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessive", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "Diamond-Blackfan anemia caused by mutation in TSR2", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "TSR2 Diamond-Blackfan anaemia", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "TSR2 Diamond-Blackfan anemia", "description": "" }, { "id": "MONDO:0010493", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010493", "name": "DBA14", "description": "" }, { "id": "MIM:300946", "resource": "MIM", "url": "https://www.omim.org/entry/300946", "name": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis", "description": "Diamond-Blackfan anemia 14, with mandibulofacial dysostosis" } ], "evidence": [ { "id": "0111897", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111897" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLR7", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7" } ], "common_name": "Rat" } ], "gene": [ { "name": "Tsr2", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7", "locus": { "chromosome": "X", "start_pos": 20064103, "end_pos": 20072620, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000064917", "url": "https://www.ensembl.org/id/ENSRNOG00000064917" } ] } } ], "crossref": [ { "id": "IPR019398", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019398", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "HEKANRT", "url": "https://omabrowser.org/oma/group/HEKANRT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR21250", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21250", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21250:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21250:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF10273", "url": "http://pfam.xfam.org/family/PF10273", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "1562416", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1562416", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A8I5ZLR7", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZLR7-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6A4W3", "url": "https://www.uniprot.org/uniprot/A0A8I6A4W3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6A4W3-1", "url": "https://www.uniprot.org/uniprot/A0A8I6A4W3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMAGAAEDVRLLFGAGVRAALEAWPALQIAVENGFGGVHSQEKAEWLGGAVEDYFIANEDVSWFPMSDSSQPPVTPAPEDLKSVPYLPTCAYAADLELEEIEDFLGELMTTEFDTVVEDGSLPQVSQQLQTMFHHFQKGDGAALQEMTSHINQKKCKVTATPLKTAKETDVAEDDVDSVEEMEVTATNDGATTDGVCPQSQPSDPDSQTIKEEDIVEDGWTIVRRKK", "length": 227, "header": "tr|A0A8I5ZLR7-1|A0A8I5ZLR7_RAT Isoform 1 of Pre-rRNA-processing protein TSR2 homolog OS=Rattus norvegicus OX=10116 GN=Tsr2 PE=1 SV=1 CANONICAL=A0A8I5ZLR7-1" }, "isoforms": [ { "isoform_ac": "A0A8I5ZLR7-1", "url": "", "sequence": { "sequence": "MMAGAAEDVRLLFGAGVRAALEAWPALQIAVENGFGGVHSQEKAEWLGGAVEDYFIANEDVSWFPMSDSSQPPVTPAPEDLKSVPYLPTCAYAADLELEEIEDFLGELMTTEFDTVVEDGSLPQVSQQLQTMFHHFQKGDGAALQEMTSHINQKKCKVTATPLKTAKETDVAEDDVDSVEEMEVTATNDGATTDGVCPQSQPSDPDSQTIKEEDIVEDGWTIVRRKK", "length": 227, "header": "tr|A0A8I5ZLR7-1|A0A8I5ZLR7_RAT Isoform 1 of Pre-rRNA-processing protein TSR2 homolog OS=Rattus norvegicus OX=10116 GN=Tsr2 PE=1 SV=1 CANONICAL=A0A8I5ZLR7-1" }, "locus": { "chromosome": "X", "start_pos": 20072603, "end_pos": 20067331, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000118302.1", "url": "https://www.ensembl.org/id/ENSRNOT00000118302.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000078813.1", "url": "https://www.ensembl.org/id/ENSRNOP00000078813.1" } ] } }, { "isoform_ac": "A0A8I6A4W3-1", "url": "", "sequence": { "sequence": "MVALGLCSQIAVENGFGGVHSQEKAEWLGGAVEDYFIANADLELEEIEDFLGELMTTEFDTVVEDGSLPQVSQQLQTMFHHFQKGDGAALQEMTSHINQKKCKVTATPLKTAKETDVAEDDVDSVEEMEVTATNDGATTDGVCPQSQPSDPDSQTIKEEDIVEDGWTIVRRKK", "length": 173, "header": "tr|A0A8I6A4W3-1|A0A8I6A4W3_RAT Computationally mapped isoform of Pre-rRNA-processing protein TSR2 homolog OS=Rattus norvegicus OX=10116 GN=Tsr2 PE=1 SV=1 CANONICAL=A0A8I5ZLR7-1" }, "locus": { "chromosome": "X", "start_pos": 20072374, "end_pos": 20067331, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000098819.1", "url": "https://www.ensembl.org/id/ENSRNOT00000098819.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000085935.1", "url": "https://www.ensembl.org/id/ENSRNOP00000085935.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLR7", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "id": "GO:0000462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000462", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZLR7", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLR7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "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": 0 } ], "sort_fields": [] } ] }