TCOF1
protein-coding gene in the species Homo sapiens
Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene. TCOF1 encodes a nucleolar protein with an LIS1 homology domain. 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.
Gene
The TCOF1 gene is located on the long (q) arm of chromosome 5 between positions 32 and 33.1, from base pair 150,357,629 to base pair 150,400,308.
Function
TCOF1 is involved in the production of a molecule called ribosomal RNA (rRNA) within cells. TCOF1 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.
The public source identifies “TCOF1” as protein-coding gene in the species Homo sapiens. This brief keeps that definition visible, then builds a research path around TCOF1, protein-coding and gene.
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This entry incorporates text from “TCOF1” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.