BPTF
Description
The BPTF (bromodomain PHD finger transcription factor) is a protein-coding gene located on chromosome 17.
The BPTF gene encodes the BPTF protein, which was originally identified by its reactivity to an antibody against brain homogenates from Alzheimer's patients. Initially thought to be an 810 amino acid protein with a DNA-binding domain and a zinc finger, BPTF is actually much larger and contains a C-terminal bromodomain, characteristic of transcription regulators during proliferation. BPTF is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex, which is essential for chromatin remodeling during transcription. Two alternative transcripts of BPTF encode different isoforms. BPTF interacts with MAZ.
BPTF is a regulatory subunit of two ATP-dependent chromatin remodeling complexes: NURF-1 and NURF-5. These complexes help organize nucleosomes on chromatin, making DNA more accessible for processes like DNA replication, transcription, and repair. NURF-1 has a slower ATP hydrolysis rate compared to NURF-5. Within NURF-1, BPTF binds to the promoters of En1 and En2 genes, positively regulating their expression and contributing to brain development. BPTF also binds to histone H3 tails trimethylated on lysine 4 (H3K4me3), a mark associated with active gene transcription start sites. It binds to dimethylated H3K4me2 to a lesser extent. BPTF may additionally regulate transcription by directly interacting with DNA or transcription factors.
BPTF is also known as FAC1, FALZ, NEDDFL, NURF301.
Associated Diseases
- 17q24.2 microdeletion syndrome
- Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
