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treacle
Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification. Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification. 8 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Nucleolus; RNA-binding; Transcription, coactivator/corepressor |
| Chromosomal Location of human Ortholog: 5q32-q33.1 |
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Cellular Component:
cytosol; fibrillar center; nucleolus; nucleoplasm
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Molecular Function:
protein binding; protein heterodimerization activity; protein-macromolecule adaptor activity; scaffold protein binding
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Biological Process:
neural crest cell development; neural crest formation; nucleolar large rRNA transcription by RNA polymerase I; regulation of translation; skeletal system development
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Disease: Treacher Collins Syndrome 1
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Reference #:
Q13428
(UniProtKB)
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Alt. Names/Synonyms: MFD1; nucleolar trafficking phosphoprotein; TCOF; TCOF1; TCS; TCS1; Treacher Collins syndrome protein; Treacher Collins-Franceschetti syndrome 1; Treacle; Treacle protein; treacle ribosome biogenesis factor 1
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Gene Symbols: TCOF1
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Molecular weight:
152,106 Da
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Basal Isoelectric point:
9.06
Predict pI for various phosphorylation states
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