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Details on Person UniProt:Q8NEY8-3 PPHLN1
| Class:Id | ReferenceIsoform:152388 |
|---|---|
| _chainChangeLog | chain:1-458 added on Sat February 7 2015 |
| _displayName | UniProt:Q8NEY8-3 PPHLN1 |
| _timestamp | 2026-02-20 22:25:39 |
| chain | chain:1-458 |
| checksum | FE5AAC9A6875A455 |
| comment | FUNCTION RNA-binding component of the HUSH complex, a multiprotein complex that mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements (PubMed:15474462, PubMed:17963697, PubMed:26022416, PubMed:32976585, PubMed:39658355). The HUSH complex mainly represses LINE-1 (L1) retrotransposons that are still capable of transposition (PubMed:32976585, PubMed:39658355). 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, as well as MORC2, a chromatin remodeler that compacts chromatin (PubMed:26022416). 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). Within the HUSH complex, PPHLN1 acts as a mRNA-binding component, which specifically binds nascent transcripts of mobile genetic elements, enabling HUSH-dependent silencing of transcripts (PubMed:39658355). Contributes to the maintenance of the HUSH complex at chromatin (PubMed:26022416, PubMed:39013473). As part of the HUSH2 complex, promotes epigenetic repression of interferon-stimulated genes (PubMed:33144593, PubMed:39013473). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (PubMed:12853457).SUBUNIT Homodimer (PubMed:12853457). Component of the HUSH complex; composed of TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416, PubMed:32976585, PubMed:39489739, PubMed:39658355). Component of the HUSH2 complex; composed of TASOR2, PPHLN1 and MPHOSPH8 (PubMed:39013473, PubMed:39489739). Interacts with SIN3A and HDAC1 (PubMed:17963697). May interact with PPL (PubMed:12853457).INTERACTION In undifferentiated keratinocytes expressed in speckle-type nuclear granules and at the nuclear membrane, but in the differentiated keratinocytes colocalized with periplakin at the cell periphery and at cell-cell junctions (PubMed:12853457). Localizes to chromatin (PubMed:26022416).ALTERNATIVE PRODUCTS Ubiquitous.PTM Substrate of transglutaminase (in vitro).MISCELLANEOUS May be due to intron retention.MISCELLANEOUS May be due to intron retention. |
| created | [InstanceEdit:143527] Schmidt, EE, 2004-11-12 07:45:10 |
| description | recommendedName: fullName evidence="16"Periphilin-1 alternativeName: fullName evidence="18"CDC7 expression repressor shortName evidence="18"CR alternativeName: fullName evidence="15"Gastric cancer antigen Ga50 |
| geneName | PPHLN1 HSPC206 HSPC232 |
| identifier | Q8NEY8 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Chromosome Cytoplasm Isopeptide bond Keratinization Nucleus Phosphoprotein Proteomics identification Reference proteome Repressor RNA-binding Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9983091] Weiser, Joel, 2026-02-20 |
| name | PPHLN1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8988045] ENSEMBL:ENSG00000134283 PPHLN1 [Homo sapiens] |
| secondaryIdentifier | PPHLN_HUMAN E9PAX8 Q86YT2 Q8IXN3 Q8TB09 Q96NB9 Q9NXL4 Q9P0P6 Q9P0R9 |
| sequenceLength | 458 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q8NEY8-3 |
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No pathways have been reviewed or authored by UniProt:Q8NEY8-3 PPHLN1 (152388)
