The domain within your query sequence starts at position 321 and ends at position 506; the E-value for the Treacle domain shown below is 1.5e-78.



PFAM accession number:PF03546
Interpro abstract (IPR003993):

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate [ (PUBMED:9096354) (PUBMED:9042910) ]; it is the most common of the human mandibulo-facial dysostosis disorders [ (PUBMED:9096354) ]. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified (TCOF1) [ (PUBMED:9042910) ]. To date, 35 mutations have been reported in TCOF1, all but one of which result in the introduction of a premature-termination codon into the predicted protein, Treacle. The observed mutational spectrum supports the hypothesis that TCS results from haploinsufficiency.

Treacle is a low complexity protein of 1,411 amino acids whose predicted protein structure contains a set of highly polar repeated motifs [ (PUBMED:9096354) ]. These motifs are common to nucleolar trafficking proteins in other species and are predicted to be phosphorylated by casein kinase. In concert with this observation, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localisation signals [ (PUBMED:9096354) ]. Throughout the open reading frame are found mutations in TCS families and several polymorphisms. It has thus been suggested that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Treacle