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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]

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Property Summary

NCBI Gene PubMed Count 23
PubMed Score 2.12
PubTator Score 3.93

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
juvenile dermatomyositis 1189 1.5e-12
acute quadriplegic myopathy 1157 1.8e-06
ovarian cancer 8491 6.5e-05
group 3 medulloblastoma 2254 3.5e-02
Disease Target Count Z-score Confidence
Intrahepatic cholangiocarcinoma 1 3.013 1.5

Expression

  Differential Expression (4)

Disease log2 FC p
juvenile dermatomyositis 1.336 1.5e-12
acute quadriplegic myopathy 1.448 1.8e-06
group 3 medulloblastoma 1.100 3.5e-02
ovarian cancer -1.200 6.5e-05

Synonym

Accession Q8NEY8 E9PAX8 Q86YT2 Q8IXN3 Q8TB09 Q96NB9 Q9NXL4 Q9P0P6 Q9P0R9
Symbols CR
HSPC206
HSPC232

Gene

PPHLN1

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (15)

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 GO Function (1)

 GO Component (5)

 GO Process (3)

 Compartment GO Term (25)

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 MGI Phenotype (1)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Gene RIF (6)

PMID Text
26022416 this study identified the HUSH (human silencing hub) complex, comprising three poorly characterized proteins, TASOR, MPP8, and periphilin; this complex is absent from Drosophila but is conserved from fish to humans.
25608663 analysis of FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19730898 Data show that periphilin displays an overlapping expression pattern with synphilin-1 in cellular and animal models and in Lewy bodies of Parkinson's disease (PD) patients, and support involvement of periphilin in PD.
15474462 CR (periphilin) retards S-phase progression by modifying expression of Cdc7 and other genes involved in progression of DNA replication
12853457 periphilin is potentially involved in epithelial differentiation and contributes to epidermal integrity and barrier formation

AA Sequence 

MWSEGRYEYERIPRERAPPRSHPSDGYNRLVNIVPKKPPLLDRPGEGSYNRYYSHVDYRDYDEGRSFSHD      1 - 70
RRSGPPHRGDESGYRWTRDDHSASRQPEYRDMRDGFRRKSFYSSHYARERSPYKRDNTFFRESPVGRKDS     71 - 140
PHSRSGSSVSSRSYSPERSKSYSFHQSQHRKSVRPGASYKRQNEGNPERDKERPVQSLKTSRDTSPSSGS    141 - 210
AVSSSKVLDKPSRLTEKELAEAASKWAAEKLEKSDESNLPEISEYEAGSTAPLFTDQPEEPESNTTHGIE    211 - 280
LFEDSQLTTRSKAIASKTKEIEQVYRQDCETFGMVVKMLIEKDPSLEKSIQFALRQNLHEIESAGQTWQQ    281 - 350
VPPVRNTEMDHDGTPENEGEETAQSAPQPPQAPQPLQPRKKRVRRTTQLRRTTGAPDITWGMLKKTTQEA    351 - 420
ERILLRTQTPFTPENLFLAMLSVVHCNSRKDVKPENKQ                                    421 - 458
//

Text Mined References (37)

PMID Year Title
26022416 2015 GENE SILENCING. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25608663 2015 Massive parallel sequencing uncovers actionable FGFR2-PPHLN1 fusion and ARAF mutations in intrahepatic cholangiocarcinoma.
25416956 2014 A proteome-scale map of the human interactome network.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19730898 2010 Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17963697 2007 CR/periphilin is a transcriptional co-repressor involved in cell cycle progression.
17924679 2007 Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16541075 2006 The finished DNA sequence of human chromosome 12.
16341674 2005 Transcriptome analysis of human gastric cancer.
16117785 2005 Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15474462 2004 Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest.
15383276 2004 A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853457 2003 Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12366696 2002 Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin.
12087473 2002 Serological identification and expression analysis of gastric cancer-associated genes.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.