BRPF1

This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants.

Full Name

BRPF1

Function

Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:24065767, PubMed:27939640).
Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 'Lys-14' acetylation (H3K14ac) (PubMed:24065767).
Some HAT complexes preferentially mediate histone H3 'Lys-23' (H3K23ac) acetylation (PubMed:27939640).
Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358).

Biological Process

Histone H3 acetylation Source: UniProtKB
Histone H3-K14 acetylation Source: UniProtKB
Histone H3-K23 acetylation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Regulation of signal transduction by p53 class mediator Source: Reactome

Cellular Location

Nucleus; Cytoplasm; Chromosome. Localization to the nucleus depends on KAT6A, ING5 and MEAF6 (PubMed:18794358, PubMed:27939640). Localizes to transcription start sites (PubMed:24065767).

Involvement in disease

Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP): An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures.

PTM

Acetylated by KAT6A.