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Description

Information PHD finger protein 1 (UniProt: O43189, also known as PHF1, hPHF1, Polycomb-like protein 1, hPCl1) is encoded by the PHF1 (also known as PCL1) gene (Gene ID: 5252) in human. PHF1 is a member of the polycomblike family and contains two PHD-type zinc fingers (aa 87-142 and 186-240) and one Tudor domain (aa 29-86). It is essential for epigenetic regulation and genome maintenance. It specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) via its Tudor domain and recruits the PRC2 complex. PHF1 is highly expressed in heart, skeletal muscle, and pancreas, with lower levels found in brain, placenta, lung, liver and kidney. It is involved in DNA damage response and is recruited at double-strand breaks. PHF1 localizes to the promoters of numerous target genes and to double-strand breaks (DSBs) sites following DNA damage. It has been reported that PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci. A chromosomal aberration involving PHF1 is reported to be the causative factor in endometrial stromal tumors. (Ref.: Sarma, K et al. (2008). Mol. Cell. Biol. 28(8): 2718-31, Musselman, CA et al (2012). Nat. Struct. Mol. Biol. 19(12):1266-72).