BPTF

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

Full Name

Bromodomain PHD Finger Transcription Factor

Function

Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.

Biological Process

Anterior/posterior pattern specification Source: Ensembl
Brain development Source: HGNC-UCL
Cellular response to nerve growth factor stimulus Source: Ensembl
Chromatin remodeling Source: HGNC-UCL
Embryonic placenta development Source: Ensembl
Endoderm development Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: MGI
Nucleosome mobilization Source: GO_Central
Positive regulation of transcription by RNA polymerase II Source: HGNC-UCL
Regulation of transcription by RNA polymerase II Source: HGNC-UCL
Response to wounding Source: Ensembl

Cellular Location

Nucleus; Cytoplasm. In brains of Alzheimer disease patients, present in a subset of amyloid-containing plaques.

Involvement in disease

Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL): An autosomal dominant neurodevelopmental disorder characterized by variable degrees of developmental delay, intellectual disability, speech delay, postnatal microcephaly, dysmorphic features, and mild abnormalities of the hands and feet.

PTM

Phosphorylation enhances DNA-binding.
Highly susceptible to proteolysis.