PHF1
PHF1 (also known as Polyhomeotic-like protein 1) is a protein that in humans is encoded by the PHF1 gene. It is a member of the Polycomb group (PcG) proteins, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations.
Function[edit | edit source]
PHF1 is a component of a Polycomb group (PcG) multiprotein PBC complex, which is known to bind and be involved in the methylation of histone H3. This complex is involved in maintaining the transcriptional repressive state of many genes, including HOX genes, throughout development. PHF1 is also involved in genome stability, DNA repair, and tumorigenesis.
Structure[edit | edit source]
The PHF1 protein contains two zinc finger domains, which are involved in DNA binding, and a PHD finger domain, which is implicated in protein-protein interactions and chromatin binding. The PHD finger domain is also responsible for recognizing and binding to methylated histone H3.
Clinical significance[edit | edit source]
Mutations in the PHF1 gene have been associated with endometrial stromal sarcoma, a rare type of uterine cancer. In addition, PHF1 has been implicated in the development of osteosarcoma, a type of bone cancer.
See also[edit | edit source]
References[edit | edit source]
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