PHF1


Description

The PHF1 (PHD finger protein 1) is a protein-coding gene located on chromosome 6.

PHF1 is a protein encoded by the PHF1 gene in humans. It shares significant sequence similarity with the Drosophila Polycomblike protein. PHF1 contains a PHD (plant homeodomain) finger, a zinc finger-like motif involved in protein-protein interactions and potentially affecting chromatin structure. This gene has two known transcript variants. PHF1 is believed to be a transcriptional regulator, playing a role in gene expression by influencing chromatin structure.

PHF1 is a Polycomb group (PcG) protein that specifically binds to histone H3 trimethylated at lysine 36 (H3K36me3) and recruits the PRC2 complex. This interaction suggests a role in regulating gene expression, potentially by influencing chromatin structure. However, the precise outcome of PRC2 recruitment to H3K36me3 remains unclear. Some studies suggest that PHF1 promotes H3K27me3 methylation and gene silencing, while others indicate that it inhibits PRC2 activity. Additionally, PHF1 is involved in the DNA damage response, being recruited to double-strand breaks (DSBs). It interacts with p53, a key tumor suppressor protein, regulating its stability and turnover.

PHF1 is also known as MTF2L2, PCL1, PHF2, TDRD19C, hPHF1.

Associated Diseases



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