PPHLN1

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq]

Full Name

periphilin 1

Function

Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416).
Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697).
The HUSH complex is also involved in the silencing of unintegrated retroviral DNA: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602).
May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457).

Biological Process

KeratinizationIEA:UniProtKB-KW
Negative regulation of gene expression, epigeneticManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedIEA:InterPro
Positive regulation of DNA methylation-dependent heterochromatin assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Protein localization to heterochromatinManual Assertion Based On ExperimentIDA:UniProtKB

PTM

Substrate of transglutaminase (in vitro).