TAF1 : TATA-box binding protein associated factor 1

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Description

The TAF1 (TATA-box binding protein associated factor 1) is a protein-coding gene located on chromosome X.

The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). This protein is active in cells and tissues throughout the body, where it attaches (binds) to DNA. Transcription factor IID plays an essential role in regulating the activity of most genes.The TAF1 gene is part of a complex region of DNA known as the TAF1/DYT3 multiple transcript system. This region consists of short stretches of DNA from the TAF1 gene plus some extra segments of genetic material near the gene. These stretches of DNA can be combined in different ways to create various sets of instructions for making proteins. Researchers believe that some of these variations are critical for the normal function of nerve cells (neurons) in the brain.

The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. TAF1 is the largest component and core scaffold of the TFIID complex, involved in nucleating complex assembly. TAF1 forms a promoter DNA binding subcomplex of TFIID, together with TAF7 and TAF2. 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. Exhibits histone acetyltransferase activity towards histones H3 and H4.

TAF1 is also known as BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1, NSCL2, OF, P250, TAF(II)250, TAF2A, TAFII-250, TAFII250, XDP.

Associated Diseases

• Mental retardation, X-linked, syndromic 33
• X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
• Dystonia 3, torsion, X-linked
• X-linked dystonia-parkinsonism