treacle protein; treacher collins syndrome protein (TCOF1)

Function

• may be involved in nucleolar-cytoplasmic transport
• may play a fundamental role in early embryonic development, particularly in development of the craniofacial complex
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

contains 1 LisH domain

Compartment

nucleus, nucleolus (putative)

Alternative splicing

named isoforms=5; major, minor

Pathology

• defects in TCOF1 are the cause of Treacher-Collins syndrome

More general terms

• nuclear protein
• phosphoprotein

Additional terms

• Treacher-Collins-Franceschetti syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6949
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6949
• OMIM: https://mirror.omim.org/entry/154500
• OMIM: https://mirror.omim.org/entry/606847
• UniProt: http://www.uniprot.org/uniprot/Q13428.html