| Tbio | Periphilin-1 |
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). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).
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, Jul 2008]
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, Jul 2008]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 1.5e-12 |
| acute quadriplegic myopathy | 1158 | 1.8e-06 |
| ovarian cancer | 8520 | 6.5e-05 |
| group 3 medulloblastoma | 4104 | 3.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Ichthyosis | 56 | 3.014 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.448 | 1.8e-06 |
| group 3 medulloblastoma | 1.100 | 3.5e-02 |
| juvenile dermatomyositis | 1.336 | 1.5e-12 |
| ovarian cancer | -1.200 | 6.5e-05 |
MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRDYDEGRSFSHD 1 - 70 RRSGPPHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDS 71 - 140 PHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGS 141 - 210 AVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIE 211 - 280 LFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQ 281 - 350 VPPVRNTEMDHDGTPENEGEETAQSAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEA 351 - 420 ERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ 421 - 458 //
