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TAF1 Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. Possesses DNA- binding activity. Essential for progression of the G1 phase of the cell cycle. Defects in TAF1 are the cause of dystonia type 3 (DYT3); also called X-linked dystonia-parkinsonism (XDP). DYT3 is a X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. Its prevalence is high in the Philippines. DYT3 has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease. Belongs to the TAF1 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: ATYPICAL group; DNA-binding; EC; EC; Kinase, protein; Protein kinase, Ser/Thr (non-receptor); Protein kinase, atypical; TAF1 family; Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: Xq13.1
Cellular Component: nuclear chromatin; nucleolus; nucleoplasm; nucleus; transcription factor complex; transcription factor TFIID complex
Molecular Function: histone acetyltransferase activity; kinase activity; p53 binding; protein binding; protein heterodimerization activity; protein serine/threonine kinase activity; sequence-specific DNA binding; TATA-binding protein binding; transcription coactivator activity; transcription factor binding
Biological Process: midbrain development; peptidyl-serine phosphorylation; peptidyl-threonine phosphorylation; positive regulation of cell proliferation; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of protein binding; positive regulation of transcription from RNA polymerase I promoter; positive regulation of transcription from RNA polymerase II promoter; protein amino acid autophosphorylation; protein amino acid phosphorylation; protein polyubiquitination; protein stabilization; protein ubiquitination during ubiquitin-dependent protein catabolic process; response to DNA damage stimulus; RNA elongation from RNA polymerase II promoter; transcription from RNA polymerase II promoter; transcription initiation; transcription initiation from RNA polymerase II promoter; transcriptional preinitiation complex assembly
Disease: Dystonia 3, Torsion, X-linked; Mental Retardation, X-linked, Syndromic 33
Reference #:  P21675 (UniProtKB)
Alt. Names/Synonyms: BA2R; CCG1; CCGS; Cell cycle gene 1 protein; cell cycle, G1 phase defect; complementation of cell cycle block, G1-to-S; DYT3; DYT3/TAF1; KAT4; N-TAF1; NSCL2; OF; p250; TAF(II)250; TAF1; TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa; TAF2A; TAFII-250; TAFII250; TBP-associated factor 250 kDa; transcription factor TFIID p250 polypeptide; Transcription initiation factor TFIID 250 kDa subunit; Transcription initiation factor TFIID subunit 1; XDP
Gene Symbols: TAF1
Molecular weight: 212,677 Da
Basal Isoelectric point: 4.97  Predict pI for various phosphorylation states
CST Pathways:  Protein Acetylation
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