Description: Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 3, mRNA. RefSeq Summary (NM_001008657): This gene encodes a nucleolar protein with a 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]. Transcript (Including UTRs) Position: hg19 chr5:149,737,202-149,764,195 Size: 26,994 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr5:149,737,310-149,763,318 Size: 26,009 Coding Exon Count: 18
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF03546 - Treacher Collins syndrome protein Treacle
ModBase Predicted Comparative 3D Structure on Q13428-5
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
