TCOF1
TCOF1 (treacle ribosome biogenesis factor 1, also known as treacle or TCS) is a nucleolar protein that regulates RNA polymerase I and links it to ribosomal processing machinery. It is required for neural crest specification, and mutations in the TCOF1 gene are associated with Treacher Collins syndrome. Browse Assay Genie's current range of TCOF1 research reagents below, or read on for the biology behind the target.
TCOF1 is a nucleolar protein that acts as a regulator of RNA polymerase I. It connects RNA polymerase I with the enzymes responsible for ribosomal processing and modification, coordinating the early steps of ribosome production. According to the NCBI Gene summary, the protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF).
The role of treacle in development has been traced to neural crest specification. Following monoubiquitination by the BCR(KBTBD8) complex, TCOF1 associates with NOLC1 and acts as a platform linking RNA polymerase I to ribosomal processing and modification enzymes. This remodels the translational program of differentiating cells in favour of neural crest specification, which ties ribosome biogenesis directly to cell fate decisions.
The TCOF1 gene encodes a nucleolar protein containing a LIS1 homology domain, and multiple transcript variants encoding different isoforms have been reported. The HGNC symbol derives from the previous gene name Treacher Collins-Franceschetti syndrome 1, and HGNC places the gene in the ribosome biogenesis factors group. Mutations in TCOF1 are associated with Treacher Collins syndrome, a disorder that includes abnormal craniofacial development. The mouse ortholog is Tcof1, which supports comparative and developmental studies of the gene.
TCOF1 connects RNA polymerase I with ribosomal processing and modification enzymes, making it a useful focus for studies of nucleolar function.
Treacle is required for neural crest specification, acting after monoubiquitination by BCR(KBTBD8) and association with NOLC1.
Mutations in TCOF1 are associated with Treacher Collins syndrome, which includes abnormal craniofacial development.
TCOF1 contributes to ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF).
TCOF1 is a nucleolar protein that regulates RNA polymerase I by connecting it with enzymes for ribosomal processing and modification. It also takes part in ribosomal DNA transcription through UBF, and is required for neural crest specification during differentiation.
TCOF1 is also called treacle or TCS, and UniProt lists the product as Treacle protein. The previous HGNC name was Treacher Collins-Franceschetti syndrome 1. Multiple transcript variants encoding different isoforms have been described for the gene.
Mutations in TCOF1 are associated with Treacher Collins syndrome, a disorder involving abnormal craniofacial development. The mouse ortholog is Tcof1. Check the datasheet of any product for its validated reactivity.
Nucleolar proteins, RNA polymerase I partners and ribosome biogenesis factors connected to treacle function.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q13428; product specifications from Assay Genie datasheets.