{ "uniprot_canonical_ac": "P53123-1", "uniprot_ac": "P53123", "uniprot_id": "MRM2_YEAST", "mass": { "chemical_mass": 37423.0, "monoisotopic_mass": 37423.0 }, "refseq": { "ac": "NP_011379", "name": "21S rRNA (uridine2791-2'-O) methyltransferase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_011379" }, "gene_names": [ { "name": "MRM2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P53123", "id": "P53123" }, { "name": "G2830", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P53123", "id": "P53123" }, { "name": "MRM2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_011379", "id": "NP_011379" } ], "protein_names": [ { "name": "rRNA methyltransferase 2, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P53123" }, { "name": "2.1.1.168", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53123" }, { "name": "21S rRNA (uridine(2791)-2'-O)-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53123" }, { "name": "21S rRNA (uridine2791-2'-O) methyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_011379", "id": "NP_011379" }, { "name": "21S rRNA [Um2791] 2'-O-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53123" } ], "function": [ { "annotation": "S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 2791 (Um2791) in the 21S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA.", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123#function" }, { "database": "PubMed", "id": "11867542", "url": "https://glygen.org/publication/PubMed/11867542" } ] } ], "disease": [ { "disease_id": "DOID:0070448", "recommended_name": { "id": "DOID:0070448", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070448", "name": "mitochondrial DNA depletion syndrome 17", "description": "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome." }, "synonyms": [ { "id": "MONDO:0032815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032815", "name": "mitochondrial DNA depletion syndrome 17", "description": "" }, { "id": "MONDO:0032815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032815", "name": "MITOCHONDRIAL DNA DEPLETION SYNDROME 17", "description": "" }, { "id": "MONDO:0032815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032815", "name": "MTDPS17", "description": "" }, { "id": "MIM:618567", "resource": "MIM", "url": "https://www.omim.org/entry/618567", "name": "Mitochondrial DNA depletion syndrome 17", "description": "Mitochondrial DNA depletion syndrome 17" } ], "evidence": [ { "id": "0070448", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070448" } ] }, { "disease_id": "DOID:3687", "recommended_name": { "id": "DOID:3687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3687", "name": "MELAS syndrome", "description": "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins." }, "synonyms": [ { "id": "DOID:3687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3687", "name": "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "MELAS syndrome", "description": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations." }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "MELAS syndrome", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "mitochondrial encephalomyopathy, lactic acidosis and stroke", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "MELAS", "description": "" }, { "id": "MONDO:0010789", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010789", "name": "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes", "description": "" }, { "id": "MIM:540000", "resource": "MIM", "url": "https://www.omim.org/entry/540000", "name": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome", "description": "Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome" } ], "evidence": [ { "id": "3687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3687" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "common_name": "Yeast" } ], "gene": [ { "name": "MRM2", "url": "https://www.uniprot.org/uniprot/P53123", "locus": {} } ], "crossref": [ { "id": "2.1.1.168", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.1.1.168&UniProtAcc=P53123", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "852741", "url": "https://www.ncbi.nlm.nih.gov/gene/852741", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR002877", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002877", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015507", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015507", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029063", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029063", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YGL136C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YGL136C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "WSQVAVN", "url": "https://omabrowser.org/oma/group/WSQVAVN/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2785996at2759", "url": "http://www.orthodb.org/?query=2785996at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10920", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10920", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10920:SF18", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10920:SF18", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01728", "url": "http://pfam.xfam.org/family/PF01728", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P53123", "url": "http://purl.obolibrary.org/obo/PR_P53123", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_011379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_011379", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000003104", "url": "https://www.yeastgenome.org/locus/S000003104", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P53123-1", "url": "https://www.uniprot.org/uniprot/P53123-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MILVYNRIRSIISSSLGRIHVRYNSNSQNRWLNRQLKDPYTKEAKVQNLRSRAAFKLMQIDDKYRLFSKNRTDQRILDLGYAPGAWSQVARQRSSPNSMILGVDILPCEPPHGVNSIQANILAKRTHDLIRLFFSKHFQLNRHDDLHKDHGYFQNMLEEELTHVKDTELYREIFTSDDIYETPNTNSTLIEREKFPVDVIISDMYEPWPQTTGFWNNITNQAYFRMANTSGVSIRDHYQSIDLCDAALVTAIDLLRPLGSFVCKLYTGEEENLFKKRMQAVFTNVHKFKPDASRDESKETYYIGLKKKRNVDKLDVFSNS", "length": 320, "header": "sp|P53123-1|MRM2_YEAST Isoform 1 of rRNA methyltransferase 2, mitochondrial OS=Saccharomyces cerevisiae S288C OX=559292 GN=MRM2 PE=1 SV=1 CANONICAL=P53123-1" }, "isoforms": [ { "isoform_ac": "P53123-1", "url": "", "sequence": { "sequence": "MILVYNRIRSIISSSLGRIHVRYNSNSQNRWLNRQLKDPYTKEAKVQNLRSRAAFKLMQIDDKYRLFSKNRTDQRILDLGYAPGAWSQVARQRSSPNSMILGVDILPCEPPHGVNSIQANILAKRTHDLIRLFFSKHFQLNRHDDLHKDHGYFQNMLEEELTHVKDTELYREIFTSDDIYETPNTNSTLIEREKFPVDVIISDMYEPWPQTTGFWNNITNQAYFRMANTSGVSIRDHYQSIDLCDAALVTAIDLLRPLGSFVCKLYTGEEENLFKKRMQAVFTNVHKFKPDASRDESKETYYIGLKKKRNVDKLDVFSNS", "length": 320, "header": "sp|P53123-1|MRM2_YEAST Isoform 1 of rRNA methyltransferase 2, mitochondrial OS=Saccharomyces cerevisiae S288C OX=559292 GN=MRM2 PE=1 SV=1 CANONICAL=P53123-1" }, "locus": { "chromosome": "VII", "start_pos": 253859, "end_pos": 252900, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "YGL136C_mRNA", "url": "https://www.ensembl.org/id/YGL136C_mRNA" }, { "database": "Ensembl Peptide", "id": "YGL136C", "url": "https://www.ensembl.org/id/YGL136C" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "MRM2 encodes a novel yeast mitochondrial 21S rRNA methyltransferase.", "journal": "EMBO J.", "date": "2002", "authors": "Bujnicki J.M., Pintard L., Lapeyre B., Bonnerot C.", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "reference": [ { "type": "PubMed", "id": "11867542", "url": "https://glygen.org/publication/PubMed/11867542" } ] }, { "title": "Approaching a complete repository of sequence-verified protein-encoding clones for Saccharomyces cerevisiae.", "journal": "Genome Res.", "date": "2007", "authors": "Hu Y., LaBaer J., Moreira D., Raphael J., Rolfs A., Zuo D., Richardson A., Simpson A.J.G., Zhu C., Harlow E., Camargo A.A., Jepson D., Kelley F., McCarron S., Taycher E., Kolodner R.D., Kane M.F., Williamson J., Berger M.F., Bulyk M.L., Bhullar B., Mohr S., Marsischky G., Murthy T.V.S.", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "reference": [ { "type": "PubMed", "id": "17322287", "url": "https://glygen.org/publication/PubMed/17322287" } ] }, { "title": "The reference genome sequence of Saccharomyces cerevisiae: Then and now.", "journal": "G3 (Bethesda)", "date": "2014", "authors": "Engel Stacia R, Dietrich Fred S, Fisk Dianna G, Binkley Gail, Balakrishnan Rama, Costanzo Maria C, Dwight Selina S, Hitz Benjamin C, Karra Kalpana, Nash Robert S, Weng Shuai, Wong Edith D, Lloyd Paul, Skrzypek Marek S, Miyasato Stuart R, Simison Matt, Cherry J Michael", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "reference": [ { "type": "PubMed", "id": "24374639", "url": "https://glygen.org/publication/PubMed/24374639" } ] }, { "title": "Sequence analysis of a 14.6 kb DNA fragment of Saccharomyces cerevisiae chromosome VII reveals SEC27, SSM1b, a putative S-adenosylmethionine-dependent enzyme and six new open reading frames.", "journal": "Yeast", "date": "1996", "authors": "Portillo F., Eraso P., Mazon M.J., Escribano V.", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "reference": [ { "type": "PubMed", "id": "8840506", "url": "https://glygen.org/publication/PubMed/8840506" } ] }, { "title": "The nucleotide sequence of Saccharomyces cerevisiae chromosome VII.", "journal": "Nature", "date": "1997", "authors": "Mewes H.-W., Minenkova O., Schaefer M., Scharfe M., Wambutt R., Wedler H., Verhasselt P., Hansen M., Rose M., Durand P., Brueckner M., Plevani P., Netter P., Rieger M., Zimmermann M., Portetelle D., Wolf K., Bertani I., Delius H., Kleine K., Portillo F., Hofmann B., Albers M., Schaefer B., Kramer W., Castagnoli L., Volckaert G., Koetter P., Entian K.-D., Kramer B., Rinaldi T., Thierry A., Louis E.J., Vandenbol M., Martegani E., Robben J., Nombela C., Vanoni M., Arroyo J., Eraso P., Mazon M.J., James C.M., Carignani G., Dujon B., Feuermann M., Goffeau A., Hani J., Hilger F., Klima R., Mueller-Auer S., Oliver S.G., Potier S., Rodrigues-Pousada C., Schmidheini T., Souciet J.-L., Steensma H.Y., Zollner A., Bruschi C.V., Escribano V., Frontali L., Guerreiro P., Mazzoni C., Purnelle B., Rodriguez-Torres A.M., Skala J., Talla E., Voet M., de Wergifosse P., Agostoni-Carbone M.L., Albermann K., Backes U., Barreiros T., Bjourson A.J., Cerdan E., Clemente M.L., Coblenz A., Coglievina M., Coissac E., Defoor E., Del Bino S., Delneri D., Fabiani L., Fartmann B., Feroli F., Garcia-Gonzalez M., Garcia-Saez M.I., Hebling U., Hernandez K., Heumann K., Indge K.J., Lauquin G., Leuther H., Maillier E., Marconi A., McReynolds A.D.K., Melchioretto P., Nawrocki A., Neu R., Panzeri L., Paoluzi S., Riles L., Rodriguez-Belmonte E., Ruzzi M., Saliola M., Sanchez-Perez M., Schreer A., Tettelin H., Van Dyck L., Watson M.D., Weber N., Wedler E., Wipfli P., Wright L.F., Zaccaria P., van der Aart Q.J.M.", "evidence": [ { "database": "UniProtKB", "id": "P53123", "url": "https://www.uniprot.org/uniprot/P53123" } ], "reference": [ { "type": "PubMed", "id": "9169869", "url": "https://glygen.org/publication/PubMed/9169869" } ] } ], "pathway": [ { "id": "sce:YGL136C", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YGL136C", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "rRNA methylation", "id": "GO:0031167", "url": 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"pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 186, "end_pos": 188, "annotation": "n_glycosylation_sequon" }, { "start_pos": 217, "end_pos": 219, "annotation": "n_glycosylation_sequon" }, { "start_pos": 228, "end_pos": 230, "annotation": "n_glycosylation_sequon" }, { "start_pos": 70, "end_pos": 72, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "42728", "name": "", "equation": "S-adenosyl-L-methionine + uridine(2791) in 21S rRNA = 2'-O-methyluridine(2791) in 21S rRNA + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P53123-1" ], "evidence": [ { "id": "42728", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/42728" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P53123", "gene_name": "MRM2", "activity": [ { "ec_number": "2.1.1.168", "activity": 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