ID:TCOF_HUMAN DESCRIPTION: RecName: Full=Treacle protein; AltName: Full=Treacher Collins syndrome protein; FUNCTION: May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex (By similarity). May participate in certain stages of ribosome biogenesis. SUBUNIT: Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA- independent manner. INTERACTION: P49407:ARRB1; NbExp=3; IntAct=EBI-396105, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-396105, EBI-714559; SUBCELLULAR LOCATION: Nucleus, nucleolus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in TCOF1 are the cause of Treacher Collins syndrome type 1 (TCS1) [MIM:154500]. It is a form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. SIMILARITY: Contains 1 LisH domain. SEQUENCE CAUTION: Sequence=AAH16144.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TCOF1";
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.
Pfam Domains: PF03546 - Treacher Collins syndrome protein Treacle
ModBase Predicted Comparative 3D Structure on Q13428
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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.
Biological Process: GO:0001501 skeletal system development GO:0006417 regulation of translation GO:0014029 neural crest formation GO:0014032 neural crest cell development
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
