TAF1

The Bromo domain mediates interaction with histones that have acetylated lysine residues at specific positions (PubMed:22464331). The second domain also recognizes and binds histones that are butyrylated and crotonylated (PubMed:26365797).

The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). 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) (PubMed:33795473). 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 (PubMed:33795473). TAF1 is the largest component and core scaffold of the TFIID complex, involved in nucleating complex assembly (PubMed:25412659, PubMed:27007846, PubMed:33795473). TAF1 forms a promoter DNA binding subcomplex of TFIID, together with TAF7 and TAF2 (PubMed:33795473). Contains novel N- and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription factors (PubMed:25412659, PubMed:8625415). Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53 (PubMed:25412659). Phosphorylates GTF2A1 and GTF2F1 on Ser residues (PubMed:25412659). Possesses DNA-binding activity (PubMed:25412659). Essential for progression of the G1 phase of the cell cycle (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300).

Dystonia 3, torsion, X-linked

DYT3

An 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. It 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.

None

The disease is caused by variants affecting the gene represented in this entry.

Intellectual developmental disorder, X-linked, syndromic 33

MRXS33

A syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated by casein kinase II in vitro.

Belongs to the TAF1 family.

• Nucleus

BA2R, CCG1, CCGS, TAF2A, TAF1, Transcription initiation factor TFIID subunit 1, Cell cycle gene 1 protein, TBP-associated factor 250 kDa, Transcription initiation factor TFIID 250 kDa subunit, p250, TAF(II)250, TAFII-250, TAFII250

• entrezGene:6872
• omim:313650
• swissprot:P21675

Proteins

Epigenetics

212677Da