Treacle protein
Protein-coding gene in the species Homo sapiens / From Wikipedia, the free encyclopedia
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Treacle protein is a protein that studies suggest 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. 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.
This article may be confusing or unclear to readers. In particular, are TCOF1 and Treacle protein one-and-the-same? Is the protein a component of the gene?. (May 2024) |
TCOF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TCOF1, MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 606847 MGI: 892003 HomoloGene: 68049 GeneCards: TCOF1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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In humans, the treacle protein is encoded by the TCOF1 (treacle ribosome biogenesis factor 1) gene.[5][6] TCOF1 encodes nucleolar proteins with an LIS1 homology domain.[7] The treacle protein is involved in rRNA 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.[6]
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.[8]
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.