TAF1

Domain

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).

Function

Largest component and core scaffold of the TFIID basal transcription factor complex (PubMed:25412659, PubMed:27007846). 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 (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).

Involvement in disease

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.

Mental retardation, X-linked, syndromic, 33

MRXS33

A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

None

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

Post-translational modifications

Phosphorylated by casein kinase II in vitro.

Sequence similarities

Belongs to the TAF1 family.

Cellular localization

• Nucleus

Alternative names

• 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
• TAF2A
• TAF1
• BA2R
• CCG1
• CCGS

Database links

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

Target type

Proteins

Primary research area

Epigenetics

Molecular weight

212677Da