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Immunogen sequence: MAEARKRRE LLPLIYHHLL RAGYVRAARE VKEQSGQKCF LAQPVTLLDI YTHWQQTSEL GRKRKAEEDA ALQAKKTRVS DPISTSESSE EEEEAEAETA KATPRLASTN SSVLGADLPS SMKEKAKAET EKAGKTGNSM PHPATGKTVA NLLSGKSPRK SAEPSANTTL VSETEEEGSV PAFGAAAKPG MVSAGQADSS SEDTSSSSDE TDVEGKPSVK PAQVKASSVS TKESPARKAA PAPGKVGDVT PQVKGGALPP AKRAKKPEEE SESSEEGSES EEEAPAGTRS QVKASEKILQ VRAASAPAKG TPGKGATPAP PGKAGAVASQ TKAGKPEEDS ESSSEESSDS E (1-350 aa encoded by BC014559)
Treacle is a serine/alanine-rich 1,411 amino acid nuclear phosphoprotein that interacts with upstream binding factor (UBF) and affects transcription of the ribosomal DNA gene. Treacle is also involved in early embryonic development, particularly in the craniofacial complex, and may play a role in nucleolarcytoplasmic transport. The Treacle protein contains three domains with unique N- and C-termini and a large central repeat domain. Mutations in TCOF1, the gene that encodes for Treacle, cause Treacher Collins-Franceschetti syndrome (TCS), a disorder characterized by defects in craniofacial development. Symptoms of TCS include conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate.
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Protein Aliases: nucleolar trafficking phosphoprotein; Treacher Collins syndrome protein; Treacher Collins syndrome protein homolog; Treacher Collins-Franceschetti syndrome 1; Treacle protein
Gene Aliases: AA408847; AW209012; MFD1; TCOF1; TCS; TCS1; treacle
UniProt ID: (Human) Q13428, (Mouse) O08784
Entrez Gene ID: (Human) 6949, (Mouse) 21453
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