PPHLN1
Description
The PPHLN1 (periphilin 1) is a protein-coding gene located on chromosome 12.
Periphilin-1 is a protein encoded by the PPHLN1 gene in humans. It is one of several proteins incorporated into the cornified cell envelope during keratinocyte differentiation in the epidermis. Periphilin-1 interacts with periplakin, a precursor of the cornified cell envelope, and its localization and insolubility suggest a role in epithelial differentiation, epidermal integrity, and barrier formation. Multiple splice variants encoding different isoforms have been observed.
Periphilin-1 is a component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci enriched in H3K9me3 and is likely required for maintaining transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that further deposits H3K9me3. Within the HUSH complex, Periphilin-1 contributes to the complex's stability at chromatin. It acts as a transcriptional corepressor and regulates the cell cycle, likely through its involvement in the HUSH complex. The HUSH complex also plays a role in silencing unintegrated retroviral DNA; some of the retroviral DNA generated immediately after infection remains unintegrated in the host genome and is transcriptionally repressed. Periphilin-1 may be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation.
PPHLN1 is also known as CR, HSPC206, HSPC232.
