Treacle protein (original) (raw)
Treacle protein is a protein that in humans is encoded by the TCOF1 gene. This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date.
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| dbo:abstract | Treacle protein is a protein that in humans is encoded by the TCOF1 gene. This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date. TCOF1 is a gene that provides instructions for making a protein called treacle. This protein is active during early embryonic development in structures that become bones and other tissues in the face. Although the precise function of this protein is unknown, researchers believe that it plays a critical role in the development of facial bones and related structures. Studies suggest that treacle is involved in the production of a molecule called ribosomal RNA (rRNA) within cells. Treacle is active in the nucleolus, which is a small region inside the nucleus where rRNA is produced. As a major component of cell structures called ribosomes, rRNA is essential for the assembly of proteins. Aside from its interaction with UBF, treacle has been implicated in the methylation of the precursor to mature ribosomal RNA by interaction with the nucleolar protein pNop56. The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 149,717,427 to base pair 149,760,047. (en) TCOF1 (англ. Treacle ribosome biogenesis factor 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 5-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 488 амінокислот, а молекулярна маса — 152 106. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах як поліморфізм, ацетилювання, альтернативний сплайсинг. Локалізований у ядрі. (uk) |
| dbo:wikiPageExternalLink | https://www.genecards.org/cgi-bin/carddisp%3FTCOF1 https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=tcs |
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| dbo:wikiPageLength | 11197 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID | 1116729871 (xsd:integer) |
| dbo:wikiPageWikiLink | dbr:Mutation dbr:Methylation dbr:Bone dbr:Boxer_(dog) dbr:DNA dbr:Nucleolus dbr:Cleft_palate dbr:Gene dbr:Embryo dbr:Treacher_Collins_syndrome dbr:Base_pair dbr:Cell_nucleus dbr:Protein dbr:Korean_Jindo dbr:Chromosome_5_(human) dbr:Ribosome dbr:Ribosomal_RNA dbr:Upstream_binding_factor |
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| gold:hypernym | dbr:Protein |
| rdf:type | owl:Thing dbo:Biomolecule dbo:Gene wikidata:Q206229 wikidata:Q7187 yago:Abstraction100002137 yago:Arrangement107938773 yago:Gene105436752 yago:Group100031264 yago:Ordering108456993 yago:WikicatHumanGenes dbo:HumanGene dbo:Protein yago:Sequence108459252 yago:Series108457976 |
| rdfs:comment | Treacle protein is a protein that in humans is encoded by the TCOF1 gene. This gene encodes a nucleolar protein with an LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date. (en) TCOF1 (англ. Treacle ribosome biogenesis factor 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 5-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 488 амінокислот, а молекулярна маса — 152 106. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин (uk) |
| rdfs:label | Treacle protein (en) TCOF1 (uk) |
| owl:sameAs | freebase:Treacle protein http://www4.wiwiss.fu-berlin.de/diseasome/resource/genes/TCOF1 yago-res:Treacle protein wikidata:Treacle protein http://bs.dbpedia.org/resource/TCOF1 http://tt.dbpedia.org/resource/TCOF1 dbpedia-uk:Treacle protein https://global.dbpedia.org/id/VUtH |
| prov:wasDerivedFrom | wikipedia-en:Treacle_protein?oldid=1116729871&ns=0 |
| foaf:isPrimaryTopicOf | wikipedia-en:Treacle_protein |
| is dbo:wikiPageRedirects of | dbr:TCOF1_(gene) dbr:Treacher_Collins-Franceschetti_syndrome_1 dbr:TCOF1 |
| is dbo:wikiPageWikiLink of | dbr:Nucleolus_organizer_region dbr:TCOF1_(gene) dbr:Treacher_Collins_syndrome dbr:Treacher_Collins-Franceschetti_syndrome_1 dbr:Microphthalmia dbr:FaceBase dbr:Treacle dbr:TCOF1 |
| is foaf:primaryTopic of | wikipedia-en:Treacle_protein |