2024年12月25日 · TAF1 (TATA-Box Binding Protein Associated Factor 1) is a Protein Coding gene. Diseases associated with TAF1 include Dystonia 3, Torsion, X-Linked and Intellectual Developmental Disorder, X-Linked, Syndromic 33. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and …

A mutation in TAF1 was identified that contributes to a phenotype with severe intellectual disability (ID), a characteristic intergluteal crease, and distinctive facial features, including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper ...

2019年7月24日 · We investigated the role of TAF1 and its association to neurodevelopment by creating the first complete knockout model of the TAF1 orthologue in zebrafish. A crucial function of human TAF1...

2019年7月24日 · The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during transcription initiation. Variants of TAF1 have been associated with neurodevelopmental disorders, but TAF1's molecular functions remain elusive. …

Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons.

TFIID 由 TATA 结合蛋白 (TBP) 和一组称为 TBP 相关因子或 TAF 的进化保守蛋白组成。 TAF 可能参与基础转录，充当共激活因子，在启动子识别中发挥作用或修饰一般转录因子 (GTF) 以促进复杂的组装和转录起始。 该基因编码 TFIID 的最大亚基。 该亚基与包含转录起始位点的核心启动子序列结合。 它还与激活剂和其他转录调节因子结合，这些相互作用会影响转录起始速率。 该亚基在 N 端和 C 端包含两个独立的蛋白激酶结构域，但也具有乙酰转移酶活性，可作为泛素激活/结合 …

Currently, TAF1 has been identified as the causative gene of X-linked dystonia-parkinsonism and X-linked mental retardation. What′s more, a series of functional analysis have demonstrated the importance of TAF1 gene in cell cycle and cell growth, and its relationship with neurodevelopment and tumorigenesis has also been reported.

taf1是x连锁肌张力障碍-帕金森综合征和x连锁的精神发育迟滞等疾病的致病基因，因其在转录过程中占有重要地位，taf1已成为多种疾病发生发展机制研究中的关注热点。

2024年1月7日 · TAF1 bromodomain inhibition as a candidate epigenetic driver of congenital heart disease. TAF1 promotes NSCLC cell epithelial-mesenchymal transition by transcriptionally activating TGFβ1. Zhang J, Li R, Zhang B, Cui XZhang J, et al. Biochem Biophys Res Commun, 2022 Dec 25. PMID 36368153.

We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals.