TADA3

Chr 3

transcriptional adaptor 3

Also known as: ADA3, NGG1, STAF54, TADA3L, hADA3

NCBI Gene: 10474 ENSG00000171148 UniProt: O75528 OMIM: 602945

The protein functions as a component of histone acetyltransferase complexes (PCAF and ATAC) that acetylate histones and regulate chromatin structure, and serves as a coactivator for p53-dependent transcriptional activation. Mutations cause autosomal recessive intellectual disability with developmental delay affecting the central nervous system. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.87

LOEUF

Mechanism· predicted