Aliases for BPTF Gene
External Ids for BPTF Gene
Previous HGNC Symbols for BPTF Gene
Previous GeneCards Identifiers for BPTF Gene
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]
GeneCards Summary for BPTF Gene
BPTF (Bromodomain PHD Finger Transcription Factor) is a Protein Coding gene. Diseases associated with BPTF include Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is KAT2B.
UniProtKB/Swiss-Prot for BPTF Gene
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.