BRPF1 gene

bromodomain and PHD finger containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jan 2016]

From UniProt:

Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:16387653, PubMed:27939640). Preferentially mediates histone H3-K23 acetylation (PubMed:27939640). Positively regulates the transcription of RUNX1 and RUNX2 (PubMed:18794358).

From NCBI Gene:

  • Intellectual developmental disorder with dysmorphic facies and ptosis

From UniProt:

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. [MIM:617333]

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3

Molecular Location: base pairs 9,731,729 to 9,748,015 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3
  • BR140
  • IDDDFP