{"id":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420588","synonym":["TAR DNA-binding protein 43","TAR DNA-binding protein-43","TARDBP","TDP-43","ALS10","TADBP_HUMAN"],"notation":"C1420588","semanticType":["http://purl.bioontology.org/ontology/STY/T028"],"cui":["C1420588"],"prefLabel":"TAR DNA binding protein","definition":["The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). This protein is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. The TDP-43 protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. This protein can also bind to RNA, a chemical cousin of DNA, to ensure the RNA's stability. The TDP-43 protein is involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the TDP-43 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. The TDP-43 protein can influence various functions of a cell by regulating protein production.~The TARDBP gene is particularly active (expressed) during early development before birth when new tissues are forming. Many of the proteins whose production is influenced by the TDP-43 protein are involved in nervous system and organ development."],"label":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["TAR DNA-binding protein 43","TAR DNA-binding protein-43","TARDBP","TDP-43","ALS10","TADBP_HUMAN"],"http://purl.bioontology.org/ontology/MEDLINEPLUS/DB_XR_ID":["NCBI Gene:23435~OMIM:605078"],"http://purl.bioontology.org/ontology/MEDLINEPLUS/has_associated_condition":["http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002736"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T028"],"http://www.w3.org/2004/02/skos/core#notation":["C1420588"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T028"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C1420588"],"http://www.w3.org/2004/02/skos/core#prefLabel":["TAR DNA binding protein"],"http://www.w3.org/2004/02/skos/core#definition":["The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). This protein is found within the cell nucleus in most tissues and is involved in many of the steps of protein production. The TDP-43 protein attaches (binds) to DNA and regulates an activity called transcription, which is the first step in the production of proteins from genes. This protein can also bind to RNA, a chemical cousin of DNA, to ensure the RNA's stability. The TDP-43 protein is involved in processing molecules called messenger RNA (mRNA), which serve as the genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the TDP-43 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. The TDP-43 protein can influence various functions of a cell by regulating protein production.~The TARDBP gene is particularly active (expressed) during early development before birth when new tissues are forming. Many of the proteins whose production is influenced by the TDP-43 protein are involved in nervous system and organ development."]},"@id":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420588","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588","ontology":"https://data.bioontology.org/ontologies/MEDLINEPLUS","children":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/children","parents":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/parents","descendants":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/descendants","ancestors":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/ancestors","instances":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/instances","tree":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/tree","notes":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/notes","mappings":"https://data.bioontology.org/ontologies/MEDLINEPLUS/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588/mappings","ui":"http://bioportal.bioontology.org/ontologies/MEDLINEPLUS?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMEDLINEPLUS%2FC1420588","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007f453dc33af0 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}